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
GPR173_chrX_53043789_53085615	53074114	T T	TTATATAT others(490): Show TTATATATAAATATATATAAATATACATGTATATTTTATTCATATATAAA TATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATA TACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTAAA TATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTATA TTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATA TAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTA AATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTA TATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0157 a0001c0001t0024g0157	1	70	0.0143	497	c.-97 others(514): Show c.-97-2405_-97-2404insTAAATATATATAAATATACATGTATATT TTATTCATATATAAATATATATAAATATACATGTATATTTATTCATATAT AAATATATATAAATATACATGTATATTTATTCATATATAAATATATATAA ATATACATGTATATTTATTCATATATAAATATATATAAATATACATGTAT ATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATAT ATAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGT AAATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGT ATATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCAT ATATAAATATATGTAAATATACATGTATATTTATTCATATATAAATATAT GTAAATATACATGTATATTTATTCATATATAAATATATGTAAATATACAT GTATATTTATTCATATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(490): Show CCATCCATCCATCCATCATCCATTTATCCATCCCTGGATCCATCCATCCA TCCATCCATCCATCCATCCGTCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAT CCATCCATCTATCCATTTATCCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCCTGGATCCATCTGTACATCCATCCATCCATCCATCCA TCCATCCATCCATCATCCATGCATGCATCTATCCATCCATCATCCATCCA TCCATCCATTCATTTATCATCCCTGGATCCTCCATCCCTGGATCCATCCA TCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATC CATCTATCCATCCATCATCCATCCATCCATCCGTGGATCCATCTATCCAT CCATCCATCCATCCATCCATCCATGCATCATCCATGCATGCATGCATG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	122	0.0082	497	c.283 others(514): Show c.283+5215_283+5216insATCCATTTATCCATCCCTGGATCCATCC ATCCATCCATCCATCCATCCATCCGTCATCCATCTATCCATCCATCCATT TATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCA CCCATCCATCCATCTATCCATTTATCCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCCTGGATCCATCTGTACATCCATCCATCCATCC ATCCATCCATCCATCCATCATCCATGCATGCATCTATCCATCCATCATCC ATCCATCCATCCATTCATTTATCATCCCTGGATCCTCCATCCCTGGATCC ATCCATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCAT CGATCCATCTATCCATCCATCATCCATCCATCCATCCGTGGATCCATCTA TCCATCCATCCATCCATCCATCCATCCATGCATCATCCATGCATGCATGC ATGCATCCATCCATCCATC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(490): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGGAACCAATACA TACATGGAACATATATATGTGGAACCAATACATACATGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATCTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG03486.hp2 NA21309.hp1 HG02717.hp2 HG03486.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0234 a0001c0001t0003g0032 a0001c0001t0003g0234	3	206	0.0146	497	c.-36 others(508): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGGAACCAATACATACATGGAACATATATATGTGGAACCAATACATAC ATGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATA TATCTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACAT ATACGGAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFT140_chr16_1505427_1617072	1599452	G G	GCCGTCCG others(490): Show GCCGTCCGGGAGGGAGGTGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGT CAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGTCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGCCGCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0020 a0020	a0020c0036 a0020c0036	a0020c0036t0003 a0020c0036t0003	a0020c0036t0003g0132 a0020c0036t0003g0132	1	145	0.0069	497	c.369 others(514): Show c.369+2917_369+2918insGGCGGCTGGCCGGGCGGGGGGCCGACAC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG CGGCTGGCCGGACGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGCG GCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGG CTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCACCTCCCTCCCGGACGG	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
KDM4B_chr19_4964113_5158598	5131563	A A	AGGCAGGG others(490): Show AGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGG GCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGC TGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCA GGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGG GGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGG TGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGG CAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCT GGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGG GGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0174 a0001c0001t0032g0174	1	162	0.0062	497	c.178 others(514): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGG CAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGG GGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGG GCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAG GGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGC AGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGG GGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAG CTGGTGGCGGGGGAGGGGG	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(490): Show AGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGG GCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGC TGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCG GGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGG GGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGG TGGGGCACAGGGGAGCTGGTGGCGGGGAGGGGGGCAGGGAGGAGGGGGGC AGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTG GTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGG GGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02886.hp1 HG01192.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0139 a0001c0001t0003g0142 a0001c0001t0003g0139 a0001c0001t0003g0142	2	163	0.0123	497	c.178 others(514): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGG CAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGG GGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGCGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGG CAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGG GGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCA GGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGG GGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAG CTGGTGGCGGGGGAGGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM4B_chr19_4964113_5158598	5131596	A A	AGGGGAGG others(490): Show AGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGG GGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGG GCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGC TGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCG GGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGG GCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGT GGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGC AGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTG GTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0124 a0002c0002t0002g0124	1	237	0.0042	497	c.178 others(514): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGG CAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGG GGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGG CAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGG GGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCA GGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGG GGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAG CTGGTGGCGGGGGAGGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(490): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGC GGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGCGGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCG GGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGG AACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGG GGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGTGGG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0196 a0001c0001t0027g0196	1	60	0.0167	497	c.317 others(514): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGGCGCTGCGGGGGCGGGGGGGGCGGGAACGGCGC TGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGC TGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACG GCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCG CTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGG GGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGGAACGGCGCTGC GGGGCGGGGGGGCGGGAACGGCGCTGCGGGGTGGGGGCGGGAACGGCGCT GCGGGGGGGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(490): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGG GCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGG GGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGG GGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCG GGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCG GGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGG AACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGG GAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGTGGG	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0108 a0001c0001t0007g0108	1	60	0.0167	497	c.317 others(514): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGGCGGGAACGG CGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACG GCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGC TGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCG CTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCG CTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAAC GGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCG CTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGG GGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCG GGGCGGGGGGGGCGGGAACGGCGCTGCGGGGTGGGGGCGGGAACGGCGCT GCGGGGGGGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(490): Show GGAAAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGAAGGG AGGAAAGGAGGAAGAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGAAGGA AGGAGGAAGGGAGGGAGGGAAGGAGGGAAGAAGGGAGGAAGGGAAGGAGG GAAGGTGGAAGGAAGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAGGGA GGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAAAGG AGGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGAAAGGAG GGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGA GGGAGGGAGGGAGGAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGGAGGG AGGAAGGAGGAAAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAG GGCAGAAGGAAGGAAGGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0004 a0004	a0004c0059 a0004c0059	a0004c0059t0002 a0004c0059t0002	a0004c0059t0002g0079 a0004c0059t0002g0079	1	8	0.1250	497	c.507 others(516): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGAAGGAGGGTAA GGGAGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAAGGATGAAGGG AGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGA AGAAGGGAGGAAGGGAAGGAGGGAAGGTGGAAGGAAGGAAGGAAGGAAGG AAAAGAAGGAAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGA AGGAACAGAAAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAAAGG AAGGAAGAAAGAAAGAAAGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAG GAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAA GGAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGG AGGGAGGAAGGAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGAGG GAAGAAAGGAAGGGAAAGGAG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTAACTT others(490): Show ACTAACTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTTC TTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCC TTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCCTTTCCTTTCCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	378	0.0026	497	c.40 others(508): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGGAAAGGAA AGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAA AGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAA GGAAAGAAAGGAAAGAAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAA GAAAGAAAGTTAG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579111	T T	TCACCACC others(490): Show TCACCACCACCACCACCACCACCACCATCACCACCACCACCCTTCACCAC CACCACCACCACCACCACCATCACCACCACCACCCTTCACCACCATCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCAC CATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCATCACCACCATCACCACCACCACCACCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCATCACCACCACCATCACCATCAC CACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCA CCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCAC CATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCAC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0009 a0009	a0009c0060 a0009c0060	a0009c0060t0001 a0009c0060t0001	a0009c0060t0001g0236 a0009c0060t0001g0236	1	327	0.0031	497	c.391 others(512): Show c.391+618_391+619insCCACCACCACCACCACCACCATCACCACCA CCACCCTTCACCACCACCACCACCACCACCACCATCACCACCACCACCCT TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCA CCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACC ACCATCACCATCACCACCACCACCATCACCACCATCACCACCACCACCAC CACCACCATCACCACCACCACCATCACCACCACCACCATCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCAC CACCACCATCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MBD3L3_chr19_7051207_7063676	7061746	T T	TATAATAT others(490): Show TATAATATAATATAATTATATAATATATAATTTATATATAATTATATATA TATAATTTATATATAATATAATTATATAATATATAATTTATATATAATAT AATTATATAATATATATTTATATATAATATAATTATATAATATATAATTT ATATATTATATAATTATATAATATATAATTTATATATAATATAATTATAT AATATATAATTTATATATAATATAATTATATAATATATAATTTATATATA ATATAATTATATAATATATAATTTATATATAATATAATTATATAATATAT AATTTATATATAATATAATTATATAATATATAATTTATATATAATATAAT TATATAATATATAATTTATATATAATATAATTATATAATATATAATTTAT ATATAATATAATTATATAATATATAATTTATATATAATATAATTATATAA TATATAATTTATATATAATATAATTATATAATATATAAATTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	247	0.0040	497	c.-31 others(508): Show c.-3142_-3141insTATATATAATTTATATATTATATAATTATATTAT ATATAAATTATATATTATATAATTATATTATATATAAATTATATATTATA TAATTATATTATATATAAATTATATATTATATAATTATATTATATATAAA TTATATATTATATAATTATATTATATATAAATTATATATTATATAATTAT ATTATATATAAATTATATATTATATAATTATATTATATATAAATTATATA TTATATAATTATATTATATATAAATTATATATTATATAATTATATTATAT ATAAATTATATATTATATAATTATATTATATATAAATTATATATTATATA ATTATATAATATATAAATTATATATTATATAATTATATTATATATAAATA TATATTATATAATTATATTATATATAAATTATATATTATATAATTATATT ATATATAAATTATATATATATAATTATATATAAATTATATATTATATAAT TATATTATATTAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3071		chr19	TogoVar
MINAR1_chr15_79427336_79477304	79439351	G G	GGTGGGGT others(490): Show GGTGGGGTGGGTAGTGAGTGTGTGGGGTGTGGGTGTGTGTAGGTTGTGGG GTGTGGGTGGGGTGGGTAGTAAGTGTGTGGGGTGTGGGGTGGGTGGTGTG TGGGTGGGGTGGGTAGTGAGTGTGGGGTGTGGGTGTGTGTAGGTAGTGTG TGGGGTGTGGGTGGGGTGGGTAGTAAGTGTGTGGGGTGTGGGGTGGGTAG TGAGTGTGTGGGTGTGGGTGGGGTGGGTAGTGAGTGTGTGGGGTGTGGGG TGGATAGTGGGTGTGTGTGGGTGGGGTGGGTAGTGAGTGTGTGGGGTGTG GGTGTGTGTAGGTTGTGGGGTGTGGGTGGGGTGGGTAGTAAGTGTGTGGG GTGTGGGGTGGGTGGTGTGTGGGTGGGGTGGGTAGTGAGTGTGGGGTGTG GGTGTGTGTAGGTAGTGTGTGGGGTGTGGGTGGGGTGGGTAGTAAGTGTG TGGGGTGTGGGGTGGATAGTGAGTGGGTGGGCGTGGGTGGGGTGGGTA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0207 a0001c0004t0001g0207	1	308	0.0032	497	c.-51 others(514): Show c.-51+6813_-51+6814insGGGGTGGGTAGTGAGTGTGTGGGGTGTG GGTGTGTGTAGGTTGTGGGGTGTGGGTGGGGTGGGTAGTAAGTGTGTGGG GTGTGGGGTGGGTGGTGTGTGGGTGGGGTGGGTAGTGAGTGTGGGGTGTG GGTGTGTGTAGGTAGTGTGTGGGGTGTGGGTGGGGTGGGTAGTAAGTGTG TGGGGTGTGGGGTGGGTAGTGAGTGTGTGGGTGTGGGTGGGGTGGGTAGT GAGTGTGTGGGGTGTGGGGTGGATAGTGGGTGTGTGTGGGTGGGGTGGGT AGTGAGTGTGTGGGGTGTGGGTGTGTGTAGGTTGTGGGGTGTGGGTGGGG TGGGTAGTAAGTGTGTGGGGTGTGGGGTGGGTGGTGTGTGGGTGGGGTGG GTAGTGAGTGTGGGGTGTGGGTGTGTGTAGGTAGTGTGTGGGGTGTGGGT GGGGTGGGTAGTAAGTGTGTGGGGTGTGGGGTGGATAGTGAGTGGGTGGG CGTGGGTGGGGTGGGTAGT	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYEOV_chr11_69289155_69302287	69291987	C C	CACCATCA others(490): Show CACCATCATCATCACCATCATCACCACCATCATCATCACCATTATCATCA CAACCATCATCACCATCACTATCATCATCACCATCATCATTATCACTACC ATCATCATTATCACCCCCACCACCATCATCACCATCATCATCACCACCAT CATCATTATCACCACCCACCATCATCACCATCATCATCATCAACACCATC ATCATCATTGTTATCATCATCATTACCACCATCATCACTACCATCATCAC CATCATCACTACCATCATCACCATCATCATCATCACCACCATCATTCTCA TCACCACTATCATCCTCATCCTCCTCCTCATCATTATCACCATCATCATC ACCATCATAATCATATAATCATCATCATCATTACCATCACCACCATTACC CATCATCATCTCATTATCACTTTCACCTTCATCACTATTACTATCATCAT CATCATCATTACCATTTCCTTTCCATCATCACCATCACTATCATGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG02622.hp2 HG02717.hp2 HG00642.hp1 HG02622.hp2 HG02717.hp2	a0005 a0008 a0005 a0008	a0005c0011 a0008c0008 a0005c0011 a0008c0008	a0005c0011t0003 a0008c0008t0007 a0005c0011t0003 a0008c0008t0007	a0005c0011t0003g0001 a0008c0008t0007g0001 a0005c0011t0003g0001 a0008c0008t0007g0001	3	199	0.0151	497	c.-27 others(508): Show c.-2712_-2711insACCATCATCATCACCATCATCACCACCATCATCA TCACCATTATCATCACAACCATCATCACCATCACTATCATCATCACCATC ATCATTATCACTACCATCATCATTATCACCCCCACCACCATCATCACCAT CATCATCACCACCATCATCATTATCACCACCCACCATCATCACCATCATC ATCATCAACACCATCATCATCATTGTTATCATCATCATTACCACCATCAT CACTACCATCATCACCATCATCACTACCATCATCACCATCATCATCATCA CCACCATCATTCTCATCACCACTATCATCCTCATCCTCCTCCTCATCATT ATCACCATCATCATCACCATCATAATCATATAATCATCATCATCATTACC ATCACCACCATTACCCATCATCATCTCATTATCACTTTCACCTTCATCAC TATTACTATCATCATCATCATCATTACCATTTCCTTTCCATCATCACCAT CACTATCATGATT	MYEOV	ENSG00000172927.9	transcript	ENST00000441339.3	protein_coding		2167		chr11	TogoVar
MYH15_chr3_108375368_108515596	108419835	T T	TAAAACTG others(490): Show TAAAACTGTGTGCCTCCGTATGTTTATTGCGGCACTATTCACAATAGCAA AGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAA ATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGA GTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCA GTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATA GGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCAC ACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGG AGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCAT GGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCT AAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18939.hp1 NA18977.hp2 others(1): Show HG02040.hp2 NA18939.hp1 NA18977.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0139 a0001c0001t0003g0128 a0001c0001t0003g0135 others(1): Show a0001c0001t0001g0139 a0001c0001t0003g0128 a0001c0001t0003g0135 a0001c0001t0003g0141	4	302	0.0132	497	c.382 others(516): Show c.3829+1252_3829+1253insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGA CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGGAGGCACACAGTTTT	MYH15	ENSG00000144821.11	transcript	ENST00000693548.1	protein_coding	28/40			chr3	TogoVar
MYT1L_chr2_1784113_2336275	1952717	T T	TCCTTCCT others(490): Show TCCTTCCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCT TCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCT CTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTT CCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCC TCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCC CTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTC CCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCT CCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCC CCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTTTCTTT CCTTCCCTCCTTCCTTTCCTTCCCTTCTTTCCCTCCTTCCTTCCTTTC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0084 a0001c0018t0002g0084	1	18	0.0556	497	c.153 others(514): Show c.153-9384_153-9383insGAAAGGAAGGAAGGAGGGAAAGAAGGGA AGGAAAGGAAGGAGGGAAGGAAAGAAAGGGAGGGAGGGAAGAGAAGGAGG GAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAG GGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGA GAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAG AGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGG GAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAG GAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAA GGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGG GGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGA GGGAGGGAGGGAAGGAAGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
NCAPG2_chr7_158626169_158709804	158648682	C C	CCACGCCA others(490): Show CCACGCCAAATGGACTACAACCACGGCAAATGGACTACAACCACGGCAAA TGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAA CCACGGCAAATGGACTACAACCACGGCAAATGGACTACAACCACGCCAAA TGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAA CCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAA TGGACAACCACGCCAAATGGACTACAACCAGGCCAAATGGACTACAACCA CGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGGCAAATGG ACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTATAACCA CGCCAAATGGACTATAACCACGCCAAATGGACTATAACCACGCCAAATGG ACTATAACCACGGCAAATGGACTACAACCACGCCAAATGGACTACAAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	276	0.0036	497	c.307 others(516): Show c.3076-2120_3076-2119insATTGTAGTCCATTTGGCGTGGTTGTA GTCCATTTGCCGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGG CGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGTGGTTGTA GTCCATTTGGCGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTGG CGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCCTGGTTGTA GTCCATTTGGCGTGGTTGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGCCGT GGTTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGGCGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTGCCGT GGTTGTAGTCCATTTGGCGTG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NEU4_chr2_241804193_241822413	241807650	T T	TCCCTCCC others(490): Show TCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCT CAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAA CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	299	0.0033	497	c.-16 others(508): Show c.-1628_-1627insCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAG GGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAA CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGA CCTCCGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1542		chr2	TogoVar
NEXN_chr1_77883624_77948895	77887925	T T	TTCCTCTT others(490): Show TTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTT CCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTCTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT CTTCTTCTTCTTCTTCTTCTTCTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTC TTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	266	0.0038	497	c.-88 others(506): Show c.-887_-886insTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCT TCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTCTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTCTTCTTCTTCTTCTTCTTCTTCTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTT CTTCTTCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTTCTTCTTCT TCTTCTTCTTC	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		698		chr1	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(490): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATACAGCATG TATACTGTATACAGCATGTATACTGTATGTATGTATACTGTATGTATGTA TACTGTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACTGCATACAGTATGTATACTGTATACATACTGCAT GCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTATATA TACACTATACAGTATGTATACTGTATATATACACACAGTATGTATACTGT ATATATACACACAGTATGTATACTGTATATATACACACAGTATGTATACT GTATATATACACACAGTATGTATACTGTATATATACACACAGTATGTATA CTGTATATATACACACAGTATGTATACTGTATATATACACACAGTATGTA TACTGTATATATACACACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0018 a0001c0005t0018	a0001c0005t0018g0008 a0001c0005t0018g0008	1	118	0.0085	497	c.-75 others(516): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAG TATACATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATAC AGTATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGT ATGTATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTG TATGCAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATA TACGGTATACATACATACAGTATACATACATACAGTATACATACATACAG TATACATGCTGTATACAGTATACATGCTGTATACAGTATACATGCTGTAC ACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(490): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	157	0.0064	497	c.91+ others(510): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGG GGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGT CGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGT TGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(490): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAG GGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0174 a0001c0003t0001g0174	1	261	0.0038	497	c.91+ others(510): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGCTGAGGGAGTCGGGG GGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(490): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	261	0.0038	497	c.91+ others(510): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGCTGAGGGAGTCGGGG GGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(490): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0116 a0001c0003t0001g0116	1	261	0.0038	497	c.91+ others(510): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGG GAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGCTGAGGGAGTCGGGG GGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(490): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0204 a0001c0002t0001g0204	1	261	0.0038	497	c.91+ others(510): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGCTGAGGGAGTCGGGG GGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397726	C C	CGGGGGGT others(490): Show CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	313	0.0032	497	c.91+ others(510): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGG GGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397733	T T	TGGGGGTG others(490): Show TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGGCTGAGGGAGTCGGGGGGTG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0201 a0006c0007t0001g0201	1	344	0.0029	497	c.91+ others(510): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGCTGAGGGAGTCGGGGG GTGGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TGTCTCCT others(490): Show TGTCTCCTCTCCTCTCCGCTCCGCTCCGCTCCGCTCCGCTCCGCTCCGCC CCGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCGCC CCGCCCCGCCCCGCCCCGCCTCGCCTCCCCTCGCCTCCCCTCGCCTCCCC TCGCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCTCTCCTCTCCTACCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCACCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCC CTCCCCTCCCCCTTCCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCTCCCG CTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCTCTCCCCTTCCCCTC CCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0237 a0001c0001t0006g0237	1	206	0.0049	497	c.433 others(514): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAGAGGGAAGGGGGAGGGG GAGGGGAGGGGAGGGGGAAGCGGGAGGGGAGGGGAAGGGGAGGGGAGGGG AGGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAGGG GAGAGGGGAGGGTGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGTAGGA GAGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGCGAGGGGAGGCGAGGGGAGGCGAGGGGAGGCGA GGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGG GGCGGGGCGGGGCGGGGCGGGGCGGAGCGGAGCGGAGCGGAGCGGAGCGG AGCGGAGAGGAGAGGAGAC	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
ODF3_chr11_191761_205258	196393	G G	GACCTGGT others(490): Show GACCTGGTGAGGGGACATAGGGGGGACCTGGTGAGGAGGACCTGGTGAGG GGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACCTGGTGA GGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGG GGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTTGGTGAGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGGGACATAGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACAT GGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACA TGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAC ATGGGGCGGACCTTGGTGAGGGGGCCTGGTGAGGGGACATGGGGGGGACC TTGGTGAGCGGACCTGGTGAGGGGACATAGGGGGACCTTGGTGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0004 a0008c0011t0004	a0008c0011t0004g0001 a0008c0011t0004g0001	1	386	0.0026	497	c.-66 others(506): Show c.-662_-661insACCTGGTGAGGGGACATAGGGGGGACCTGGTGAGGA GGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAG GAGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTTGG TGAGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTT GGTGAGGGGACCTGGTGAGGGGACATAGGGGGACCTTGGTGAGGGGACCT GGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACC TGGTGAGGGGACATGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGAC CTGGTGAGGGGACATGGGGCGGACCTTGGTGAGGGGGCCTGGTGAGGGGA CATGGGGGGGACCTTGGTGAGCGGACCTGGTGAGGGGACATAGGGGGACC TTGGTGAGGGA	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		367		chr11	TogoVar
PDXK_chr21_43714129_43767299	43741359	C C	CGCGGGGG others(490): Show CGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTGGC GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGG GGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCAGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGCCTCGCGGGGGGCTGGCGG GGGCCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTGGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTGGCGGGGGG GCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGG CGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	335	0.0030	497	c.143 others(512): Show c.143-298_143-297insCGCGGGGGGGCTCGCGGGGGGGCTCGCGGG GGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGG CTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCAGGGGGGCTC GCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGCCTCGCGGGG GGCTGGCGGGGGCCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCT GGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCG GGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTGGCGGGGGGCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PERM1_chr1_970198_987093	977160	C C	CCAACCCG others(490): Show CCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCT GCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCC ACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0022 a0022	a0022c0041 a0022c0041	a0022c0041t0001 a0022c0041t0001	a0022c0041t0001g0173 a0022c0041t0001g0173	1	221	0.0045	497	c.215 others(514): Show c.2150-537_2150-536insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGG CGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAG TGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTGGTGGGGGGAGTG GGAGGCGGTTCCCGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PLEKHN1_chr1_961482_980865	977160	C C	CCAACCCG others(490): Show CCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCT GCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCC ACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0053 a0001c0007t0001g0053	1	232	0.0043	497	c.25 others(508): Show c.2585_*2586insCAACCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCA CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1296		chr1	TogoVar
PPP2R5C_chr14_101756709_101932977	101782548	C C	CTGTCTCT others(490): Show CTGTCTCTTTCTCCCCTTCCCTCTCTCTCCCCCCCTTTCTCCCCATTCCC CTCCCTCTCTCCCCCTTCCCCTCCCTCTCCCCCTTCCCCTCCCTCTCTCC CCTTCTCTCTCTCTTTCTCCCCTTCCCTCTCTCTCCCCTCTGTCTCTTTC TCCCCTTCCCTCTCTCTCCCCCCCTTTCTCCCCATTCCCCTCCCTCTCTC CCCCTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCCCCCTTCCCCTC CCTCTCTCCCCCTTCCCCTCCCTCTCCCCCTTCCCCTCCCTCTCTCCCCT TCTCTCTCTCTTTCTCCCCTTCCCTCTCTCTCCCCTCTGTCTCTTTCTCC CCTTCCCCCTCTCTCCCCCCCTTTCTCCCCATTCCCCTCCCTCTCTCCCC CTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCCCCCTTCCCCTCCCT CTCTCCCCTTCTCTCTCTCTTTCTCCCCTTCCCTCTCTCTCCCCTCTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0045 a0001c0001t0001g0048	2	117	0.0171	497	c.94- others(512): Show c.94-3469_94-3468insGTCTCTTTCTCCCCTTCCCTCTCTCTCCCC CCCTTTCTCCCCATTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCCCC CTTCCCCTCCCTCTCTCCCCTTCTCTCTCTCTTTCTCCCCTTCCCTCTCT CTCCCCTCTGTCTCTTTCTCCCCTTCCCTCTCTCTCCCCCCCTTTCTCCC CATTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCCTC CCTCTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCCCCCTT CCCCTCCCTCTCTCCCCTTCTCTCTCTCTTTCTCCCCTTCCCTCTCTCTC CCCTCTGTCTCTTTCTCCCCTTCCCCCTCTCTCCCCCCCTTTCTCCCCAT TCCCCTCCCTCTCTCCCCCTTCCCCTCCCTCTCTCCCCCTTCCCCTCCCT CTCCCCCTTCCCCTCCCTCTCTCCCCTTCTCTCTCTCTTTCTCCCCTTCC CTCTCTCTCCCCTCTGT	PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PPP6R2_chr22_50338327_50450090	50397547	A A	AGGGGGGC others(490): Show AGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCCTGTCAT CTCTGAGCTTTTCTCTGAGGAGCATGACTTGGGATGGGGGCAGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTC TGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0170 a0001c0002t0001g0170	1	181	0.0055	497	c.227 others(514): Show c.227+3417_227+3418insGCCTGTCCTCACCAGCCTTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCC TCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGCATGACTTGGGA TGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTC TCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGC CTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCA GGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGA GTGTGACTTGGGATGGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCGGGGGGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
RAB11FIP3_chr16_420649_528011	492394	C C	CCCGGGAG others(490): Show CCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGT CCAGAGCCCTCCCCGGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGA GACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGACCCGAGGCCGTCCAGGG CCCTTCCCGGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGGAGACCC GAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTC CCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGGAGACCCGAGGCCG TCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGA GACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGG CCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGA GGCCGTCCAGGGCCCCCCCCGGGAGACCCGAGGCCGTCCAGAGCCCTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0025 a0001c0002t0044g0025	1	240	0.0042	497	c.126 others(516): Show c.1265+3396_1265+3397insGGGAGACCCGAGGCCGCCCAGAGCCC TCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGGAGACCCGAGGC CGTCCAGAGCCCTCCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGG GAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGTCCA GAGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACC CGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCT TCCCGGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAGACCCGAGGC CGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGG GAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAG GGCCCTTCCCGGGAGACCCGAGGCCGTCCAGGGCCCCCCCCGGGAGACCC GAGGCCGTCCAGAGCCCTTCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(490): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCC TCCCCTTCCTTCCCCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCC TTTCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCC CTCCTCTCCCCTCCCTCCCCTCCCCTTTTCTCTCCCTTCCCCTCCCATCC CCTACACTTCCCTCCCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTC CCTACACTTCCCTTCCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCC CCTCCCTTCCCCATCCCCTTCCCTCCCCTTCCCCTCCCCCCACCCTCCCT TCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTC CCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0083 a0002c0008t0001g0083	1	10	0.1000	497	c.80+ others(514): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCCTCCCCTCCT CTCCCCTCCCTCCCCTCCCCTTCCTTCCCCCTCTCCTTCCTTCCCCTCCC CTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCC CTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTTTCTCTCC CTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTACACTTC CGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCCCTTTC CCTCCTCTTCCCTCCCCTCCCTTCCCCATCCCCTTCCCTCCCCTTCCCCT CCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCCTT CCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTC CCCTCCCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831060	T T	TCTCTCCC others(490): Show TCTCTCCCCTCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCCTCCC TTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCC TTCCTCCCCTCTCCTTCCCTTCCCCTCCCCTCCCTTCCCTCCCTTTCCCT CCCCTCCCTCCCCTTCCCTCCCTCCCCTTCCCTCCCTTCCCCCTCCCCTC CTCTCCCCTCCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTAC ACTTCCCTCCCCTCCCCTTCCCTACACTTCCGTCCCCCTCCCTTCCCTAC ACTTCCCTTCCCTCCCCTCCCTCCCTTTCCCTCCTCTTCCCCTCCCCTCC CTTCCCCATCCCCTTCCCCTCCCTTCCCCTCCCCCCACCCTCCCTTCCCC TCCCTTCTTCTCTCCCCCCTCCCCTCCCCCTTCCCTTCCCTTCCCCTCCC CTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCCTCCCTCCCTTCCCATC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0085 a0001c0002t0085	a0001c0002t0085g0026 a0001c0002t0085g0026	1	214	0.0047	497	c.80+ others(514): Show c.80+30511_80+30512insTCTCCCCTCCTCCCTTTCCCTCCCCTCC TTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCT CTCCCCTCCCTCCCCTCCCCTTCCTCCCCTCTCCTTCCCTTCCCCTCCCC TCCCTTCCCTCCCTTTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTTC CCTCCCTTCCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTTTCTCC CTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTACACTTC CGTCCCCCTCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCTCCCTTTCC CTCCTCTTCCCCTCCCCTCCCTTCCCCATCCCCTTCCCCTCCCTTCCCCT CCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCCTCCCCTCCCCC TTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCC CCTCCCTCCCTTCCCATCC	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80281590	G G	GCCAACAC others(490): Show GCCAACACACACAGCCAACTCACACCCAACACACACACACACCCCACTCA CCCCCAACACACACACACCACTCACACCACTCACACACCCCCAACATACA TATCCCACTCACCCCACTCACACACACCCAACACACACACACACCCCACT CACCCCCAACACATACAAATCCCACTCACACCACTCACACACACATACCC CACTCACACACACCCCAACACACACATACACCCCACTCACACACATACCC CAACACACACACATATCCCACTCACACCACTCACCCCCAACATACACCCC ACTCACCCCACTCACACACACCCAACACACACACACACCCCACTCACCCC CAACACACACACATCCGACTCACACCACTCACACACCCCAACACACATAC CCCACTCACACACACACCCCAACACACACACACCCCTCTCATCCCACTCA CACATACCCAACACACACACAGCCCACTCACACGACTCACACACCCCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0002 a0013c0020t0002	a0013c0020t0002g0002 a0013c0020t0002g0002	1	172	0.0058	497	c.262 others(514): Show c.262-6200_262-6199insCAACACACACACACACCCCACTCACCCC CAACACACACACACCACTCACACCACTCACACACCCCCAACATACATATC CCACTCACCCCACTCACACACACCCAACACACACACACACCCCACTCACC CCCAACACATACAAATCCCACTCACACCACTCACACACACATACCCCACT CACACACACCCCAACACACACATACACCCCACTCACACACATACCCCAAC ACACACACATATCCCACTCACACCACTCACCCCCAACATACACCCCACTC ACCCCACTCACACACACCCAACACACACACACACCCCACTCACCCCCAAC ACACACACATCCGACTCACACCACTCACACACCCCAACACACATACCCCA CTCACACACACACCCCAACACACACACACCCCTCTCATCCCACTCACACA TACCCAACACACACACAGCCCACTCACACGACTCACACACCCCCCCAACA CACACAGCCAACTCACACC	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TAATATAT others(490): Show TAATATATAATATATATAATATATAATATATAATATATAATATATAATAT ATATAATATATAATATATAATATATAATATATATAATATATAATATATAT TATATATAATATATATATTATATATAATATATAATATATATAATATAATA TATATAATATAATATATATATTATATATAATATATATTATATATTATATA TAATATATATTTATATATAATATATAAATATATATTATATATAATATATA ATATATAATTATATATTATATATTATATATAATATATATTTATATATAAT ATATAAATATAATTATATATTATATATAATATATAAATATATATTATATA TAATATATAATATATATTTATATATTATATATTATATATAATATATATTT ATATATTATATATAATATATAAATATATATTATATATATTTAATATATAT TTTATATATAAATTATATATTATATATATTTAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	29	0.0345	497	c.193 others(516): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATAATTTATATATAAAATATATATTAAATATATATAATATATAT TTATATATTATATATAATATATAAATATATATTATATATAATATATAATA TATAAATATATATTATATATTATATATAATATATATTTATATATTATATA TAATATATAATTATATTTATATATTATATATAAATATATATTATATATAA TATATAATATATAATTATATATTATATATTATATATAATATATATTTATA TATTATATATAAATATATATTATATATAATATATAATATATATTATATAT AATATATATATTATATTATATATATTATATTATATATATTATATATTATA TATAATATATATATTATATATAATATATATTATATATTATATATATTATA TATTATATATTATATATTATATATATTATATATTATATATTATATATTAT ATATTATATATATTATATATT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TAATATAT others(490): Show TAATATATAATATATATAATATATAATATATAATATATAATATATAATAT ATATAATATATAATATATAATATATAATATATATAATATATAATATATAT TATATATAATATATATATTATATATAATATATATTATATATAATATAATA TATATAATATAATATATATATTATATATAATATATATTATATATTATATA TAATATATATTTATATATAATATATAAATATATATTATATATAATATATA ATATATAATTATATATTATATATTATATATAATATATATTTATATATAAT ATATAAATATAATTATATATTATATATAATATATAAATATATATTATATA TAATATATAATATATATTTATATATTATATATTATATATAATATATATTT ATATATTATATATAATATATAAATATATATTATATATATTTAATATATAT TTTATATATAAATTATATATTATATATATTTAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp2 HG02602.hp1 others(1): Show HG00741.hp2 HG01175.hp2 HG02602.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 a0001c0001t0002 a0001c0002t0001 a0001c0003t0002	a0001c0001t0002g0130 a0001c0002t0001g0024 a0001c0002t0001g0179 others(1): Show a0001c0001t0002g0130 a0001c0002t0001g0024 a0001c0002t0001g0179 a0001c0003t0002g0062	4	32	0.1250	497	c.193 others(516): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATAATTTATATATAAAATATATATTAAATATATATAATATATAT TTATATATTATATATAATATATAAATATATATTATATATAATATATAATA TATAAATATATATTATATATTATATATAATATATATTTATATATTATATA TAATATATAATTATATTTATATATTATATATAAATATATATTATATATAA TATATAATATATAATTATATATTATATATTATATATAATATATATTTATA TATTATATATAAATATATATTATATATAATATATAATATATATTATATAT AATATATATATTATATTATATATATTATATTATATATAATATATATTATA TATAATATATATATTATATATAATATATATTATATATTATATATATTATA TATTATATATTATATATTATATATATTATATATTATATATTATATATTAT ATATTATATATATTATATATT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TAATATAT others(490): Show TAATATATAATATATATAATATATTATATATAATATATAATATATAATAT ATATAATATATAATATATAATATATAATATATATAATATATAATATATAT TATATATAATATATATATTATATATAATATATAATATATATAATATAATA TATATAATATAATATATATATTATATATAATATATATTATATATTATATA TAATATATATTTATATATAATATATAAATATATATTACATATAATATATA ATATATAATTATATATTATATATTATATATAATATATATTTATATATAAT ATATAAATATAATTATATATTATATATAATATATAAATATATATTATATA TAATATATAATATATATTTATATATTATATATTATATATAATATATATTT ATATATTATATATAATATATAAATATATATTATATATATTTAATATATAT TTTATATATAAATTATATATTATATATATTTAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	29	0.0345	497	c.193 others(516): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATAATTTATATATAAAATATATATTAAATATATATAATATATAT TTATATATTATATATAATATATAAATATATATTATATATAATATATAATA TATAAATATATATTATATATTATATATAATATATATTTATATATTATATA TAATATATAATTATATTTATATATTATATATAAATATATATTATATATAA TATATAATATATAATTATATATTATATATTATATGTAATATATATTTATA TATTATATATAAATATATATTATATATAATATATAATATATATTATATAT AATATATATATTATATTATATATATTATATTATATATATTATATATTATA TATAATATATATATTATATATAATATATATTATATATTATATATATTATA TATTATATATTATATATTATATATATTATATATTATATATTATATATAAT ATATTATATATATTATATATT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TAATATAT others(490): Show TAATATATAATATATATAATATATTATATATAATATATAATATATAATAT ATATAATATATAATATATAATATATAATATATATAATATATAATATATAT TATATATAATATATATATTATATATAATATATAATATATATAATATAATA TATATAATATAATATATATATTATATATAATATATATTATATATTATATA TAATATATATTTATATATAATATATAAATATATATTATATATAATATATA ATATATAATTATATATTATATATTATATATAATATATATTTATATATAAT ATATAAATATAATTATATATTATATATAATATATAAATATATATTATATA TAATATATAATATATATTTATATATTATATATTATATATAATATATATTT ATATATTATATATAATATATAAATATATATTATATATATTTAATATATAT TTTATATATAAATTATATATTATATATATTTAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02155.hp2 NA18948.hp1 others(3): Show HG00438.hp1 HG02155.hp2 NA18948.hp1 NA18952.hp1 NA19065.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0017 a0001c0002t0001g0013 a0001c0002t0001g0020 others(3): Show a0001c0001t0002g0017 a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0122 a0001c0002t0001g0156 a0001c0002t0001g0161	6	34	0.1765	497	c.193 others(516): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATAATTTATATATAAAATATATATTAAATATATATAATATATAT TTATATATTATATATAATATATAAATATATATTATATATAATATATAATA TATAAATATATATTATATATTATATATAATATATATTTATATATTATATA TAATATATAATTATATTTATATATTATATATAAATATATATTATATATAA TATATAATATATAATTATATATTATATATTATATATAATATATATTTATA TATTATATATAAATATATATTATATATAATATATAATATATATTATATAT AATATATATATTATATTATATATATTATATTATATATATTATATATTATA TATAATATATATATTATATATAATATATATTATATATTATATATATTATA TATTATATATTATATATTATATATATTATATATTATATATTATATATAAT ATATTATATATATTATATATT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TAATATAT others(490): Show TAATATATAATATATATAATATATTATATATAATATATAATATATAATAT ATATTATATATAATATATAATATATAATATATATAATATATAATATATAT TATATATAATATATATATTATATATAATATATAATATATATAATATAATA TATATAATATAATATATATATTATATATAATATATATTATATATTATATA TAATATATATTTATATATAATATATAAATATATATTATATATAATATATA ATATATAAATATATATTATATATTATATATAATATATATTTATATATAAT ATATAAATATAATTATATATTATATATAATATATAAATATATATTATATA TAATATATAATATATATTTATATATTATATATTATATATAATATATATTT ATATATTATATATAATATATAAATATATATTATATATATTTAATATATAT TTTATATATAAATTATATATTATATATATTTAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	29	0.0345	497	c.193 others(516): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATAATTTATATATAAAATATATATTAAATATATATAATATATAT TTATATATTATATATAATATATAAATATATATTATATATAATATATAATA TATAAATATATATTATATATTATATATAATATATATTTATATATTATATA TAATATATAATTATATTTATATATTATATATAAATATATATTATATATAA TATATAATATATATTTATATATTATATATTATATATAATATATATTTATA TATTATATATAAATATATATTATATATAATATATAATATATATTATATAT AATATATATATTATATTATATATATTATATTATATATATTATATATTATA TATAATATATATATTATATATAATATATATTATATATTATATATATTATA TATTATATATTATATATAATATATATTATATATTATATATTATATATAAT ATATTATATATATTATATATT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TAATATAT others(490): Show TAATATATAATATATATAATATATTATATATAATATATAATATATAATAT ATATTATATATAATATATAATATATAATATATATAATATATAATATATAT TATATATAATATATATATTATATATAATATATAATATATATAATATAATA TATATAATATAATATATATATTATATATAATATATATTATATATTATATA TAATATATATTTATATATAATATATAAATATATATTATATATAATATATA ATATATAATTATATATTATATATTATATATAATATATATTTATATATAAT ATATAAATATAATTATATATTATATATAATATATAAATATATATTATATA TAATATATAATATATATTTATATATTATATATTATATATAATATATATTT ATATATTATATATAATATATAAATATATATTATATATATTTAATATATAT TTTATATATAAATTATATATTATATATATTTAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA19082.hp2 NA18998.hp1 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0103 a0001c0002t0001g0010 a0001c0002t0001g0103	2	30	0.0667	497	c.193 others(516): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATAATTTATATATAAAATATATATTAAATATATATAATATATAT TTATATATTATATATAATATATAAATATATATTATATATAATATATAATA TATAAATATATATTATATATTATATATAATATATATTTATATATTATATA TAATATATAATTATATTTATATATTATATATAAATATATATTATATATAA TATATAATATATAATTATATATTATATATTATATATAATATATATTTATA TATTATATATAAATATATATTATATATAATATATAATATATATTATATAT AATATATATATTATATTATATATATTATATTATATATATTATATATTATA TATAATATATATATTATATATAATATATATTATATATTATATATATTATA TATTATATATTATATATAATATATATTATATATTATATATTATATATAAT ATATTATATATATTATATATT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SART1_chr11_65956734_65985137	65971134	A A	ATGGTGGG others(490): Show ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCATGAGCTGCTGAGGAGGGGGATGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCAGAAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGG GATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03710.hp1 HG02602.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0188 a0001c0002t0003g0189	2	82	0.0244	497	c.157 others(516): Show c.1572+3316_1572+3317insTGGGATTCATGAGCTGCTGAGGAGGG GGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGA GCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGAT GGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAGCTGAGG AGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATG AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCT GCTGAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTGGG ATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTGTTTAT others(490): Show TTGTTTATAAATACTGTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATAAATACAATATTTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	255	0.0039	497	c.632 others(514): Show c.632+8244_632+8245insGTTTATAAATACTGTATTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATAAATACAAT ATTTATTTATAAATACTGT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCGB1C1_chr11_188078_199575	196393	G G	GACCTGGT others(490): Show GACCTGGTGAGGGGACATAGGGGGGACCTGGTGAGGAGGACCTGGTGAGG GGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACCTGGTGA GGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGG GGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTTGGTGAGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGGGACATAGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACAT GGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACA TGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAC ATGGGGCGGACCTTGGTGAGGGGGCCTGGTGAGGGGACATGGGGGGGACC TTGGTGAGCGGACCTGGTGAGGGGACATAGGGGGACCTTGGTGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	354	0.0028	497	c.19 others(508): Show c.1943_*1944insACCTGGTGAGGGGACATAGGGGGGACCTGGTGAG GAGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTG AGGAGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTT GGTGAGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACC TTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGACCTTGGTGAGGGGAC CTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGA CCTGGTGAGGGGACATGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACATGGGGCGGACCTTGGTGAGGGGGCCTGGTGAGGG GACATGGGGGGGACCTTGGTGAGCGGACCTGGTGAGGGGACATAGGGGGA CCTTGGTGAGGGA	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1819		chr11	TogoVar
SLC1A2_chr11_35246205_35424558	35403936	G G	GGCAAAGG others(490): Show GGCAAAGGAGGAAACAGCTCAAAGGCAAAGGGGGAAAGTCTTTTTTTTTT TTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTGGCCCAGGCTGGAGT ACAGTGGTGCAATTTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGC GATTCTCTTGCCTCAGCCTCCCAAGTAGCCAGGACTACAGGTGCTCGCCA CCATGCCCGGCTAATTTTTGTATTTTTGGTAGAGACGGGTTTCACTGTTG GCCAGGCGGGCCTGGAACTCCTGACCTCATGATCCGCCCACCTTGGCCTC CCAAAGTGCTGGGCTTACAGGCGTGAGCCATCGCGCCCGGCCGGGAAAGT TCCCTTTAAGCAAACATATGGACGCATGGATCAGTCCCTGCTCCGTGATC ACGGCCGCCTCAGCTGCACAGAATCCTGATATTCCTGCTCCCGGCAAACA AGGGAACATCTTCCTCTTGCTGGCTTGCCTCAGCAGCTTAGCTCAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0227 a0001c0001t0033g0227	1	137	0.0073	497	c.17+ others(514): Show c.17+15013_17+15014insTTTTGAGCTAAGCTGCTGAGGCAAGCCA GCAAGAGGAAGATGTTCCCTTGTTTGCCGGGAGCAGGAATATCAGGATTC TGTGCAGCTGAGGCGGCCGTGATCACGGAGCAGGGACTGATCCATGCGTC CATATGTTTGCTTAAAGGGAACTTTCCCGGCCGGGCGCGATGGCTCACGC CTGTAAGCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAGGTCAG GAGTTCCAGGCCCGCCTGGCCAACAGTGAAACCCGTCTCTACCAAAAATA CAAAAATTAGCCGGGCATGGTGGCGAGCACCTGTAGTCCTGGCTACTTGG GAGGCTGAGGCAAGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTG AGCTGAAATTGCACCACTGTACTCCAGCCTGGGCCACAGAGTGAGACTCT GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGACTTTCCCCCTTTGCCTTT GAGCTGTTTCCTCCTTTGC	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding	1/10			chr11	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(490): Show CGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGG GGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGGGGGGGC GGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGG AGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGGG GAGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGG CGGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGG GGAGGCGGGGGGGCGGGAGGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGC GGGGGGGAGGGAGGGGAAGGAGGCGGGGGGGGGCGGGAGGGGGAGGACGC GGGGGGGGCGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGG GGAGGCGGGAGGGGAAGGAGGCGGGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	25	0.0400	497	c.914 others(516): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCC GCCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCC TCCCGCCCCCCCCGCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCCCGC CTCCTTCCCCTCCCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCGCC CCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCC TCCCGCCCCTCCCGCCCCCCCGCCCCCCCCGCCTCCTCCCCCTCCGGCCC CCTCCCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTCC CGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCG CCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCC CCGCCTCCTCCCCCTCCCGCCCCCCCCGCCTCCTCCCCTCCCGCCCCCCC GCCTCCCCCCTGCCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar

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