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
GRIN2A_chr16_9748408_10187428	9848749	T T	TTTTAAAT others(367): Show TTTTAAATATATAAAATACACTGTTTTATAATATTTTAAATATATAAAAT ACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTA AATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGT TTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATAT AAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATAT ATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATAC ACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAA TATATAAAATACACTGTTTTATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0066 a0001c0001t0068g0066	1	168	0.0060	374	c.132 others(393): Show c.1328+1006_1328+1007insTATATAAAACAGTGTATTTTATATAT TTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTG TATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATA TATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTA TATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAA CAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTT AAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTA TTTTATATATTTAAAATATTATAAAACAGTGTATTTTATATATTTAAA	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12			chr16	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(367): Show CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCC CTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCC CTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTC CTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTC CTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCT CCTCCTCCTCCCCCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0115 a0001c0001t0004g0115	1	290	0.0035	374	c.427 others(391): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCC TCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCC CCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCC TCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCC CCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTC CTCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GUCY1A2_chr11_106669019_107023476	106710137	T T	TTATATAC others(367): Show TTATATACATGTATATAACATATAGTTATGTATATTATATACATGTATAT AACATATAGTTATGTATATTATATACATGTATATAACATATAGTTATGTA TATTATATACATGTATATAACATATAGTTATGTATATTATATACATGTAT ATAACATATAGTTATGTATATTATATACATGTATATAACATATAGTTATG TATATTATATACATGTATATAACATATAGTTATGTATATTATATACATGT ATATAACTATATGTATATAATATATAGTACATGTATATAATATATAGTTA TATATAATATAGTTATATACATGTATATAATATATAGTTATATATAATAG TTATATATATTATATACATGTATAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01361.hp2 HG00140.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0003 a0001c0012t0003 a0001c0001t0003 a0001c0012t0003	a0001c0001t0003g0080 a0001c0012t0003g0207 a0001c0001t0003g0080 a0001c0012t0003g0207	2	256	0.0078	374	c.183 others(393): Show c.1837-1472_1837-1471insTTATACATGTATATAATATATATAAC TATTATATATAACTATATATTATATACATGTATATAACTATATTATATAT AACTATATATTATATACATGTACTATATATTATATACATATAGTTATATA CATGTATATAATATACATAACTATATGTTATATACATGTATATAATATAC ATAACTATATGTTATATACATGTATATAATATACATAACTATATGTTATA TACATGTATATAATATACATAACTATATGTTATATACATGTATATAATAT ACATAACTATATGTTATATACATGTATATAATATACATAACTATATGTTA TATACATGTATATAATATACATAACTATATGTTATATACATGTATATA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HECTD4_chr12_112155195_112387431	112339310	C C	CAAGAAAA others(367): Show CAAGAAAATGCAAGTCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGAAAAAAAAGAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0041	1	270	0.0037	374	c.178 others(393): Show c.178-19569_178-19568insTTTTTTTTTTTCTTTTTTTTCTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCGTGACTTGCATTTTCTT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HSF1_chr8_144286604_144319720	144313788	G G	GCGCCGCG others(367): Show GCGCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCGCCGCGCCGCCT CCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCT CCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGC CGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCC CGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGC GCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCC GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCC TCCCCGCCTCCCCGCCTCCCCGCCT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	330	0.0030	374	c.124 others(389): Show c.1249-57_1249-56insGCCGCGCCGCCTCCCCGCGCCGCGCCGCCT CCCCGCGCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCC CGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGC CTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGC CTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTC CCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCC TCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCG CCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(367): Show CATATATGTATATATGGAAAATATATACATATATGTATATATGGAACATA TATACATATATGGAACCAATACATACATGGAACATATATATGTGGAACCA ATACATACACGGAACATATATATGTGGAACCAATACATATACGGAACATA TATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATAC ATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	323	0.0031	374	c.-36 others(385): Show c.-3670_-3669insATATATGTATATATGGAAAATATATACATATATG TATATATGGAACATATATACATATATGGAACCAATACATACATGGAACAT ATATATGTGGAACCAATACATACACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACG GAACATATATATGTGGAACCAATACATATACGGAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TACGGAAT others(367): Show TACGGAATATATATACGGAATGTATATATATGGAATATATATACGGAATG TATATACGGAATATATATATATGGAATATATATACGGAATATATATATAT GGAATATATATACGGAATATATATATATGGAACATATATATACGGAATAT ATACATATGGAACATATATATATGGAATATATACATATGGAACATATATA TGGAATATATACATATGGAACATATATATGGAATATATACATATGGAACA TATATATGGAACATATATATATGGAACATATATATGGAATATATATATAT GGAATATATATATATGGAATATATATATATGGAATATATATATATGGAAT ATATATATGGAATATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0117 a0003c0003t0009g0119 a0003c0003t0009g0117 a0003c0003t0009g0119	2	323	0.0062	374	c.-21 others(385): Show c.-2147_-2146insACGGAATATATATACGGAATGTATATATATGGAA TATATATACGGAATGTATATACGGAATATATATATATGGAATATATATAC GGAATATATATATATGGAATATATATACGGAATATATATATATGGAACAT ATATATACGGAATATATACATATGGAACATATATATATGGAATATATACA TATGGAACATATATATGGAATATATACATATGGAACATATATATGGAATA TATACATATGGAACATATATATGGAACATATATATATGGAACATATATAT GGAATATATATATATGGAATATATATATATGGAATATATATATATGGAAT ATATATATATGGAATATATATATGGAATATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
KCNMB2_chr3_178531436_178849429	178758039	T T	TACACAAG others(367): Show TACACAAGAGGATATATATATATACACACAAGAGGATATATATATGTACA CACAAGAGGAATTATAATATATATCCAAGAGGATATATTTATAAAATATC CAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATA TATATATCCATGAGGATATATATATATATATATATCCAAGAGGATATATA TATATATATATATATCCAAGAGGATATATATATATATATATATATCCAAG AGGGATATATATATATATATAATATATCCAAGAGGATATATATATATATA TATATCCAAGAGGATATATATATATATATATATATATCCAAGAGGATATA TATATATATATATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	232	0.0043	374	c.-67 others(393): Show c.-67-49303_-67-49302insCACAAGAGGATATATATATATACACA CAAGAGGATATATATATGTACACACAAGAGGAATTATAATATATATCCAA GAGGATATATTTATAAAATATCCAAGAGGATATATATATATATATATATC CAAGAGGATATATATATATATATATATATCCATGAGGATATATATATATA TATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATA TATATATATATATATATCCAAGAGGGATATATATATATATATAATATATC CAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATA TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758709	G G	GATATATA others(367): Show GATATATATATATATATATCTCCAAGAGGAGATATATATATATATATATA TCTCCAAGAGGAGATATATATATATATATATATCTCCAAAAGGAGATATA TATATATATATATATCTCCAAGAGGAGATATATATATATATATATATATA TCTCCAAGAGGAGATATATATATATATATATATATATCTCCTCTTGGAGA TATATATATATATATATATATCTCCAAGAGGAGATATATATATATATATC TCCAAGAGGAGATATATATATATATATCTCCAAGAGGAGATATATATATA TATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATA TATATATATATCTCCAAGAGGAGAT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0132	1	232	0.0043	374	c.-67 others(393): Show c.-67-48586_-67-48585insATCTCCAAGAGGAGATATATATATAT ATATATATCTCCAAAAGGAGATATATATATATATATATATCTCCAAGAGG AGATATATATATATATATATATATATCTCCAAGAGGAGATATATATATAT ATATATATATATCTCCTCTTGGAGATATATATATATATATATATATCTCC AAGAGGAGATATATATATATATATCTCCAAGAGGAGATATATATATATAT ATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATAT ATATCTCCAAGAGGAGATATATATATATATATATATCTCCAAGAGGAGAT ATATATATATATATATATCTCCAAGAGGAGATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(367): Show CGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGGGCGGGAACGGCGC TGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGC GGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGG GGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCG GGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCG GGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGC GGGGGGGGGCGGGAACGGCGCTGCG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0036 a0002c0002t0003g0036	1	375	0.0027	374	c.317 others(391): Show c.317+1438_317+1439insGGCGGGAACGGCGCTGCGGGGGGGGGGG GCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCG GGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACG GCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGG AACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGG GAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGG GAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCG GGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMC1_chr1_183018420_183150592	183149453	T T	TCCTCACA others(367): Show TCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCA CATCCCTCTCCTCACACACCACACAGCCCACACCCCTGTCCTCCTCACAC ACCACACAGCCCACACCCCTCCTCACACACCACACAGCTCACACCCCTCT CCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACCACACAGCC CACACCCCTCTCCTGCTCACACACCACACAGCCCACACCCCTCTCCTCCT CACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCCCACA CCCCTCTCCTCACACACCAGACAGCTCACACCCCTCTCCTGCTCACACAC CACACAGCTCACACCCCTCTCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0092 a0001c0002t0002g0092	1	308	0.0033	374	c.66 others(385): Show c.6663_*6664insCCTCACACCACAGAGCCCACACCCCTCTCCTCAC ACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCC CTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCACACACCACAC AGCTCACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCC TCACACCACACAGCCCACACCCCTCTCCTGCTCACACACCACACAGCCCA CACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACAC ACCACACAGCCCACACCCCTCTCCTCACACACCAGACAGCTCACACCCCT CTCCTGCTCACACACCACACAGCTCACACCCCTCTCCTCA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3862		chr1	TogoVar
LHPP_chr10_124456823_124619141	124610410	C C	CGGGTGAG others(367): Show CGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGT GAGGGTGCTGGTGGAGCGGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAG CGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGT GAGGGTGCTGGTGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCG GGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGA GGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGTGGGTGTTGACGGAGCGG GTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAG GGTGAGGGTGCTGTGGAGCGGGTGA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0205 a0001c0001t0003g0205	1	260	0.0039	374	c.717 others(391): Show c.717-2828_717-2827insGTGGAGCGGGTGAGGGTGCGGGTGAGGG TGCTGGTGGAGCGGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGT GAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGG TGCTGGTGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTG AGGGTGCTGATGGAGCGGGTGAGGGTGTGGGTGTTGACGGAGCGGGTGAG GGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGA GGGTGCTGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	857590	G G	GAGTGATG others(367): Show GAGTGATGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCA CGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGG ACGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGG GTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCACGGGATGGGTG TGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTG CAGTGGTGTCTCGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	294	0.0034	374	c.153 others(393): Show c.1530-2885_1530-2884insGCACACCCGTCCCGAGACACCACTGC ACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCAC ACCCATCCCGTGACACCACTGCACACCCATCCCGAGACACCACTCACACC CATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCGTC CCGTGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGT GACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCA CTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACATCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857692	T T	TCGGGACG others(367): Show TCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGC AGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTG GTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGAGTGGTGTCA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	294	0.0034	374	c.153 others(393): Show c.1530-2987_1530-2986insTGACACCACTCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACC ACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCAC TGCACACCCATCCCGAGACACCACTGCACACCCATCCCGTGACACCACTG CACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCG TCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857751	G G	GAGTGGTG others(367): Show GAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCACGGGATGGGTGTGCAGTGGTGTCACGGGATGGGTGTGCAGTGGTGT CTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCA CGGGATGGGTGTGCAGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCG GGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCACGGGAT GGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGT GTGAGTGGTGTCTCGGGATGGGTGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0005 a0005	a0005c0024 a0005c0024	a0005c0024t0007 a0005c0024t0007	a0005c0024t0007g0259 a0005c0024t0007g0259	1	294	0.0034	374	c.153 others(393): Show c.1530-3046_1530-3045insACACCCATCCCGAGACACCACTCACA CCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCA TCCCGTGACACCACTCACACCCATCCCGTGACACCACTCACACCCATCCC GAGACACCACTGCACACCCATCCCGTGACACCACTGCACACCCATCCCGT GACACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGA CACCACTGCACACCCATCCCGTGACACCACTGCACACCCATCCCGTGACA CCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCA CTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858987	G G	GAGTGGTG others(367): Show GAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTG TCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTC GGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGG GATGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAGTGATGTCACGGGAT GGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCACGGGACGGGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	294	0.0034	374	c.153 others(393): Show c.1530-4282_1530-4281insACACCCGTCCCGTGACACCACTCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCA TCCCGTGACATCACTGCACACCCATCCCGTGACACCACTCACACCCATCC CGAGACACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCCG AGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGAC ACCACTCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858988	C C	CAGTGGTG others(367): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGT CACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCG GGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGG ATGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAGTGATGTCACGGGATG GGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGACGGGTG TGAGTGGTGTCACGGGACGGGTGTG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA19010.hp2 NA18964.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0251 a0001c0008t0001g0090 a0001c0001t0001g0251 a0001c0008t0001g0090	2	294	0.0068	374	c.153 others(393): Show c.1530-4283_1530-4282insCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGAGACACCACTCACACCCATCCCGTGACACCACTCACACCC ATCCCGTGACATCACTGCACACCCATCCCGTGACACCACTCACACCCATC CCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCC GAGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGA CACCACTCACACCCATCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACTGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCAC TGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858988	C C	CAGTGGTG others(367): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGT CACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCG GGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGG ATGGGTGTGAGTGGTGTCACGGGATGGGTGTGCAGTGATGTCACGGGATG GGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTG TGAGTGGTGTCACGGGACGGGTGTG	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0176 a0001c0003t0001g0176	1	294	0.0034	374	c.153 others(393): Show c.1530-4283_1530-4282insCACACCCGTCCCGTGACACCACTCAC ACCCATCCCGAGACACCACTCACACCCATCCCGTGACACCACTCACACCC ATCCCGTGACATCACTGCACACCCATCCCGTGACACCACTCACACCCATC CCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCC GAGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGA CACCACTCACACCCATCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACTGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCAC TGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	960364	C C	CACAGACT others(367): Show CACAGACTCACGGTGACAACACTGGATCACAACCCAGACACCATCTCATG GTGACAACACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGG GATCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCA GACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGG GATCACGACCCAGACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACAGGATCACGACCCAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG06807.hp2 HG03453.hp2 HG06807.hp2	a0011 a0011	a0011c0039 a0011c0040 a0011c0039 a0011c0040	a0011c0039t0001 a0011c0040t0002 a0011c0039t0001 a0011c0040t0002	a0011c0039t0001g0245 a0011c0040t0002g0264 a0011c0039t0001g0245 a0011c0040t0002g0264	2	294	0.0068	374	c.194 others(391): Show c.194-5699_194-5698insCTGGGTCGTGATCCTGTGCTGTCACCGT GAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGTCT GGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTCTGGGTCGTGATCCCG TGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTCTGG GTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCCCG TGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCCCGTGTTGTCACCAT GAGATGGTGTCTGGGTTGTGATCCAGTGTTGTCACCGTGAGTCTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LRGUK_chr7_134122340_134269595	134190878	A A	AAAGCAGT others(367): Show AAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGA TAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGC GGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGG GATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGA GCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTG GGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTT GAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTC TGGGGATAGACAGTAGTTGAGCGGT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03654.hp1 NA19091.hp1 HG01993.hp2 HG03654.hp1 NA19091.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0005 a0001c0003t0003g0128 a0001c0003t0003g0131 a0001c0003t0003g0005 a0001c0003t0003g0128 a0001c0003t0003g0131	3	220	0.0136	374	c.133 others(391): Show c.1335-709_1335-708insAAGCAGTTCTGGGGATAGACAGTAGTTG AGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCT GGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGT TGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTT CTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTA GTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAG TTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAG TAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGT	LRGUK	ENSG00000155530.4	transcript	ENST00000285928.3	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
MAN2B2_chr4_6570189_6628362	6579114	C C	CCACCACC others(367): Show CCACCACCACCACCACCACCACCATCACCACCACCACCCTTCACCACCAC CACCACCACCACCACCATCACCACCACCACCCTTCACCACCATCACCACC ACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCACCAT CACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACC ACCATCACCACCATCACCACCACCACCATCACCACCACCATCACCATCAC CACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCA CCACCACCATCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0288 a0002c0002t0001g0288	1	362	0.0028	374	c.391 others(389): Show c.391+618_391+619insCCACCACCACCACCACCACCATCACCACCA CCACCCTTCACCACCACCACCACCACCACCACCATCACCACCACCACCCT TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCACCATCACCACCATCACCATCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCA CCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCACC ACCACCATCACCATCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCATCACCACCACCACCATCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19478003	G G	GGGGGGAG others(367): Show GGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGG GGAGGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGAGGGGGAGGGGGG GAGAGAGGGGGAGAGAGGGGGAGAGGGGGGAGAGAGGGGGGAGCGGGGAG AGAGGGGGGAGGGGGGAGAGAGGGGGGAGGGGGAGAGAGGGGGGAGGGGA GAGAGGGGGGAGGGGAGAGAGGGGGGAGGGGGGAGAGGGGGGGAGGGGGG AGAGGGGGGAGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGGGAGAG GGGGGGAGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGGGAGAGGGG GGAGGGGGAGAGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	163	0.0061	374	c.525 others(391): Show c.525+8478_525+8479insTCCCCCCTCCCCCCTCTCCCCCTCCCCC CTCTCCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCCTCCCCCCCTC TCCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCC CCCTCCCCCCCTCTCCCCCCTCCCCCCTCTCTCCCCTCCCCCCTCTCTCC CCTCCCCCCTCTCTCCCCCTCCCCCCTCTCTCCCCCCTCCCCCCTCTCTC CCCGCTCCCCCCTCTCTCCCCCCTCTCCCCCTCTCTCCCCCTCTCTCCCC CCCTCCCCCTCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCCTCCCCC CTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MLPH_chr2_237482251_237560322	237517073	G G	GTGTTTGA others(367): Show GTGTTTGAGTGGATGGATAAATAGATGTCTGAGTGGATGAATGCATTGGT GGGTGGATGGGTAGGCAGCTGGGTAGATGTATGAAGGAGTAAGGGATGAG TGGTGGGTGGATGGATAGACGAATGGATGGATAGGTAGGTGGAGGGGTGG ATGGGTAGGTGAATGAGTGGATAGATGGGTGGATGCATGGATGCATGGAT GGATGGATGAACGGATGGATGGATGGATGGATAAGTAGGTGGATGGGCAG ATAGATAGGTAGGTGGATAGGTGGATGGATGGGCAGATAAGGTGGTAGGT GGGTCAATGGATGGATGGGTGGGTGAGTGGATAGGTGGATGGATGGATGC ATGGATGGATGGATGGATAGATAGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp2 HG01081.hp1 others(46): Show HG00280.hp2 HG00621.hp2 HG01081.hp1 HG01433.hp2 HG01884.hp1 HG02055.hp1 HG02074.hp2 HG02083.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp2 HG03942.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18941.hp1 NA18948.hp1 NA18957.hp2 NA18980.hp1 NA19067.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0003 a0005 a0008 others(4): Show a0003 a0005 a0008 a0010 a0012 a0033 a0038	a0003c0003 a0003c0054 a0005c0004 others(6): Show a0003c0003 a0003c0054 a0005c0004 a0008c0011 a0008c0029 a0010c0012 a0012c0013 a0033c0032 a0038c0031	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(16): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0003c0054t0003 a0005c0004t0001 a0005c0004t0002 a0005c0004t0004 a0008c0011t0001 a0008c0011t0002 a0008c0011t0015 a0008c0029t0001 a0010c0012t0001 a0010c0012t0003 a0012c0013t0001 a0012c0013t0002 a0012c0013t0013 a0033c0032t0002 a0038c0031t0001	a0003c0003t0001g0091 a0003c0003t0001g0106 a0003c0003t0001g0107 others(46): Show a0003c0003t0001g0091 a0003c0003t0001g0106 a0003c0003t0001g0107 a0003c0003t0001g0108 a0003c0003t0001g0111 a0003c0003t0001g0229 a0003c0003t0001g0239 a0003c0003t0001g0264 a0003c0003t0001g0267 a0003c0003t0002g0023 a0003c0003t0002g0110 a0003c0003t0002g0238 a0003c0003t0002g0240 a0003c0003t0002g0256 a0003c0003t0002g0257 a0003c0003t0002g0262 a0003c0003t0003g0125 a0003c0003t0003g0134 a0003c0003t0003g0241 a0003c0003t0005g0136 a0003c0003t0005g0242 a0003c0003t0005g0265 a0003c0003t0005g0266 a0003c0054t0003g0112 a0005c0004t0001g0008 a0005c0004t0001g0010 a0005c0004t0001g0012 a0005c0004t0001g0013 a0005c0004t0001g0014 a0005c0004t0001g0016 a0005c0004t0001g0017 a0005c0004t0001g0018 a0005c0004t0001g0019 a0005c0004t0001g0274 a0005c0004t0002g0009 a0005c0004t0004g0015 a0005c0004t0004g0087 a0008c0011t0001g0088 a0008c0011t0001g0089 a0008c0011t0002g0271 a0008c0011t0015g0254 a0008c0029t0001g0124 a0010c0012t0001g0273 a0010c0012t0003g0282 a0012c0013t0001g0074 a0012c0013t0002g0123 a0012c0013t0013g0100 a0033c0032t0002g0049 a0038c0031t0001g0048	49	286	0.1713	374	c.446 others(391): Show c.446-1465_446-1464insGTTTGAGTGGATGGATAAATAGATGTCT GAGTGGATGAATGCATTGGTGGGTGGATGGGTAGGCAGCTGGGTAGATGT ATGAAGGAGTAAGGGATGAGTGGTGGGTGGATGGATAGACGAATGGATGG ATAGGTAGGTGGAGGGGTGGATGGGTAGGTGAATGAGTGGATAGATGGGT GGATGCATGGATGCATGGATGGATGGATGAACGGATGGATGGATGGATGG ATAAGTAGGTGGATGGGCAGATAGATAGGTAGGTGGATAGGTGGATGGAT GGGCAGATAAGGTGGTAGGTGGGTCAATGGATGGATGGGTGGGTGAGTGG ATAGGTGGATGGATGGATGCATGGATGGATGGATGGATAGATAGAT	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MPPED2_chr11_30405224_30591353	30557214	T T	TATATATA others(367): Show TATATATATATAATATATATATTATATATATAATATATATATTATATATA TAATATATATATTATATATATATTATATATATTATATATATATTATATAT AATATATATATAATATATATAATATATATATTATATATATAATATATATA TTATATATATATTATATATATATTATATATAATATATATATTATATATAT AATATATATTATATATAATATATATATTATATATTTAATATATATATTAT ATATATTATATATATATTATATATATAATATATATATTATATATATAATA TATATTATATATATAATATATATTATATATATAATATATATATTATATAT ATATTATATATATTATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG02622.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0147 a0001c0001t0010g0148 a0001c0001t0010g0147 a0001c0001t0010g0148	2	262	0.0076	374	c.129 others(393): Show c.129-21040_129-21039insTATATATATATAATATATATAATATA TATATAATATATATATTATATATATAATATATATTATATATATAATATAT ATTATATATATAATATATATATTATATATATAATATATATATAATATATA TAATATATATATTAAATATATAATATATATATTATATATAATATATATTA TATATATAATATATATATTATATATAATATATATATAATATATATATAAT ATATATATTATATATATAATATATATATTATATATATTATATATATATTA TATATAATATATATATAATATATATAATATATATATAATATATATATTAT ATATATAATATATATATTATATATATAATATATATATTATATATATAT	MPPED2	ENSG00000066382.17	transcript	ENST00000358117.10	protein_coding	2/6			chr11	TogoVar
MSH4_chr1_75791882_75918242	75906498	T T	TATATATA others(367): Show TATATATACAATATTATATATATTATATATAATATATATACAATATTATA TATATTATATATATATACATATATATGTATATATACATATATAATATGTA TATATGTATATATATATGTATAATATATATATTGTATATATATATTATAC ATATGTATATATATATTATACATATATATGTATAATATATATAATGTATA TATATACATATTATATATTATATATAATATATACATATATATTATATATA ATATATACATATTATATATTATATATATAATATATATACATATTATATTA TATATAATATATATACATATTACATATATTATATATAATATATATACATA TATAATATATTATATATTATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp1 NA20752.hp2 HG00140.hp1 HG01070.hp1 NA20752.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0089 a0002c0003t0001g0091 a0002c0003t0001g0096 a0002c0003t0001g0089 a0002c0003t0001g0091 a0002c0003t0001g0096	3	332	0.0090	374	c.262 others(393): Show c.2620-6191_2620-6190insCAATATTATATATATTATATATAATA TATATACAATATTATATATATTATATATATATACATATATATGTATATAT ACATATATAATATGTATATATGTATATATATATGTATAATATATATATTG TATATATATATTATACATATGTATATATATATTATACATATATATGTATA ATATATATAATGTATATATATACATATTATATATTATATATAATATATAC ATATATATTATATATAATATATACATATTATATATTATATATATAATATA TATACATATTATATTATATATAATATATATACATATTACATATATTATAT ATAATATATATACATATATAATATATTATATATTATATATAATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH4_chr1_75791882_75918242	75906498	T T	TATATATA others(367): Show TATATATACAATATTATATATATTATATATAATATATATACAATATTATA TATATTATATATATATACATATATATGTATATATACATATATAATATGTA TATATGTATATATATGTATAATATATATATTGTATATATATATTATACAT ATGTATATATATATTATACATATATATGTATAATATATATAATGTATATA TATATACATATTATATATTATATATAATATATACATATATATTATATATA ATATATACATATTATATATTATATATATAATATATATACATATTATATTA TATATAATATATATACATATTACATATATTATATATAATATATATACATA TATAATATATTATATATTATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0130 a0008c0013t0001g0130	1	332	0.0030	374	c.262 others(393): Show c.2620-6191_2620-6190insCAATATTATATATATTATATATAATA TATATACAATATTATATATATTATATATATATACATATATATGTATATAT ACATATATAATATGTATATATGTATATATATGTATAATATATATATTGTA TATATATATTATACATATGTATATATATATTATACATATATATGTATAAT ATATATAATGTATATATATATACATATTATATATTATATATAATATATAC ATATATATTATATATAATATATACATATTATATATTATATATATAATATA TATACATATTATATTATATATAATATATATACATATTACATATATTATAT ATAATATATATACATATATAATATATTATATATTATATATAATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MTTP_chr4_99569824_99628997	99588871	A A	ACATATAT others(367): Show ACATATATATGTTCATATATATTCATATATATATGTTCATATATATTCAT ATATATGTTCATATATATATTCATATATATGTTCATATATATTCATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03486.hp1 NA19004.hp1 HG01975.hp1 HG03486.hp1 NA19004.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0088 a0003c0003t0001g0146 a0003c0003t0001g0157 a0003c0003t0001g0088 a0003c0003t0001g0146 a0003c0003t0001g0157	3	364	0.0082	374	c.394 others(389): Show c.394-763_394-762insGTTCATATATATTCATATATATATGTTCAT ATATATTCATATATATGTTCATATATATATTCATATATATGTTCATATAT ATTCATATATATGTTCATATATATATTCATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99588899	A A	ACATATAT others(367): Show ACATATATATGTTCATATATATTCATATATATATGTTCATATATATTCAT ATATATGTTCATATATATATTCATATATATGTTCATATATATTCATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19011.hp2 NA19001.hp1 NA19011.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0086 a0003c0003t0001g0151 a0003c0003t0001g0086 a0003c0003t0001g0151	2	364	0.0055	374	c.394 others(389): Show c.394-735_394-734insGTTCATATATATTCATATATATATGTTCAT ATATATTCATATATATGTTCATATATATATTCATATATATGTTCATATAT ATTCATATATATGTTCATATATATATTCATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MYNN_chr3_169768396_169794716	169771266	A A	ATATAAAA others(367): Show ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0050 a0001c0002t0002g0050	1	350	0.0029	374	c.-22 others(385): Show c.-2228_-2227insTATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATAT	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2129		chr3	TogoVar
MYT1L_chr2_1784113_2336275	2295565	C C	CAGAGAGA others(367): Show CAGAGAGAGAGAGAGAGACAGACAGAGAGAGAGAGAGAGAGAGACAGACA GACAGAGAGAGAGAGAGACAGACAGACAGACAGAGAGAGAGAGAGAGACA GACAGACAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGAGAGAGACA GACAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGAGAGAGACAGACA GACAGAGAGAGAGAGACAGACAGACAGAGAGAGAGAGAGATAGACAGACA GAGAGAGAGAGAGAGACAGACAGACAGAGAGAGAGAGAGACAGACAGAGA GAGAGAGAGAGACAGACAGACAGAGAGAGAGAGAGACAGACAGACAGAGA GAGAGAGAGAGAGACAGACAGACAG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0005 a0001c0020t0005	a0001c0020t0005g0081 a0001c0020t0005g0081	1	104	0.0096	374	c.-52 others(395): Show c.-520-11063_-520-11062insCTGTCTGTCTGTCTCTCTCTCTCT CTCTCTGTCTGTCTGTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTCT CTCTCTGTCTGTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCT CTGTCTGTCTATCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTGT CTGTCTGTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTGT CTGTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTGTCTGT CTGTCTCTCTCTCTCTCTCTGTCTGTCTGTCTGTCTCTCTCTCTCTCTGT CTGTCTGTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCTCTCTCTCT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	1/24			chr2	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(367): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCTCTCCTCCCCTTCCCTCCCCTCGCCCTCCCTCCCCT CCCCTCTCCCTCCCCTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCC ATCCCTCCCCGTCCCCTCCCTCTCCCTCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCCCCTTCCCCTTCCTCTCCCTCCCTTCCCC TCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CTCCCTCCCCTTCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTTCCCCTCCCCTCTCCCTTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	223	0.0045	374	c.289 others(391): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCTCTCCTCCCCTTCCCTC CCCTCGCCCTCCCTCCCCTCCCCTCTCCCTCCCCTCCCCTCCCCTCTCCC TCCCCTCCCCCTCCCCTCCATCCCTCCCCGTCCCCTCCCTCTCCCTCCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTTCCCCT TCCTCTCCCTCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTTCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCTCCCTTCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NAV2_chr11_19707837_20126601	19941447	T T	TAATAAAT others(367): Show TAATAAATAGCATGAGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCTGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0048 a0001c0018t0048	a0001c0018t0048g0141 a0001c0018t0048g0141	1	166	0.0060	374	c.214 others(393): Show c.2146+1693_2146+1694insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCTGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAATAAATAAATAAATAAATAAATAAATAGCATGAGGTTG	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	8/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELFB_chr9_137250327_137278542	137273768	A A	AATAATTT others(367): Show AATAATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGATATAATAATTTCTGG GGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGG ATGATATAATAATTTCTGGGGGAAGTTGATATAATTTCTGGGGGAGGTTG ATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTT CTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGG GAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTT GATGTAATTTCTGGGGGAGGTTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0077 a0001c0006t0005g0077	1	364	0.0028	374	c.84 others(383): Show c.840_*841insATAATTTCTGGGGGAGGATGATATAATTTCTGGGGG AGGTTGATGTAATTTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGATA TAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAA TTTCTGGGGGAGGATGATATAATAATTTCTGGGGGAAGTTGATATAATTT CTGGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGG GAGGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGAT ATAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATT TCTGGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGAT	NELFB	ENSG00000188986.9	transcript	ENST00000343053.6	protein_coding		227		chr9	TogoVar
NHLRC4_chr16_562005_574495	571086	T T	TGTGTCTG others(367): Show TGTGTCTGCCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTG TGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTG TGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTG TGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCG TGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAG CCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTGGCTAGCCTGGCGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	374	c.26 others(385): Show c.2667_*2668insGTGTCTGCCTAGCCTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTG GTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGG CTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1592		chr16	TogoVar
NLRP8_chr19_55942832_55993629	55993508	C C	CCCCCCCT others(367): Show CCCCCCCTCCTCTCCCCCCCTCCTCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCC CCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCC CTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTC CCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0006 a0009c0010t0006	a0009c0010t0006g0003 a0009c0010t0006g0003	1	350	0.0029	374	c.55 others(385): Show c.5595_*5596insCCCCCCTCCTCTCCCCCCCTCCTCTCCCCCCTCC CCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTC CCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCC CCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCT CCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4880		chr19	TogoVar
OR11H4_chr14_20234286_20249349	20237783	A A	ATAGTATA others(367): Show ATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATAT ATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTAT ATGTACTATATAGTACATATAGTATATATACTATATGTACTATATAGTAT ATATACTATATATAGTATATATACTATATAGTACATATAGTATATATAGT ATATATAGTATATAGTACATATAGTATATATAGTATATATAGTATATAGT ATATATTTTATAGTATATATAGTATATATACTATATAGTATATATTATAT AGTATATATACTATAAAGTACATAATTTATATATTACATATAATACATAA TATATATTTATATATTATATTAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG06807.hp1 HG01891.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0155 a0001c0001t0001g0156	2	439	0.0046	374	c.-15 others(385): Show c.-1560_-1559insTAGTATATATACTCTATAGTATATATAGTATATA TACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATA TAGTATATATACTATATGTACTATATAGTACATATAGTATATATACTATA TGTACTATATAGTATATATACTATATATAGTATATATACTATATAGTACA TATAGTATATATAGTATATATAGTATATAGTACATATAGTATATATAGTA TATATAGTATATAGTATATATTTTATAGTATATATAGTATATATACTATA TAGTATATATTATATAGTATATATACTATAAAGTACATAATTTATATATT ACATATAATACATAATATATATTTATATATTATATTAAAT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1502		chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(367): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTATT ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	438	0.0023	374	c.-29 others(389): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAA TAATAATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(367): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01516.hp2 NA18977.hp1 HG01516.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	2	438	0.0046	374	c.-29 others(389): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAATAATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(367): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACGGGCGCCTGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	438	0.0023	374	c.-29 others(389): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCCGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAATAATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(367): Show ACTGAATGTACATTATTATTATTATTATTATTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	438	0.0023	374	c.-29 others(389): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
PALLD_chr4_168492052_168933441	168499273	T T	TGGGAGGG others(367): Show TGGGAGGGAGGAAGGGAGGGAGGAAGGGAGGGAGGAAGGGAGGGAGGATG GGAGGGAGGATGGGAGGGAGGAAGGGAGGGAGGATGGGAGGGAGACATGG AAGAAGGGGGAAGGGAGGCAGAAGGGAGGGAGAGGGGAGGGAGGAAGGGA GGGAGGATGGGAGGGAGGATGGGAGGGAGGATGGGAGGGAGGAAGGGAGG GAGGAAGGGAGGGAGACATGGAAGAAGGGGGAAGGGAGGCAGAAGGGAGG GAGAGGGGAGGGAGGAAGGGAGGGAGGATGGGAGGGAGGAAGGGAGGGAG GAAGGGAGGGAGGATGGGAGGGAGGAAGGGAGGGAGGATGGGAGGGAGGA AGGGAGGGAGGAAGGGAGGGAGGAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	156	0.0064	374	c.-83 others(391): Show c.-83+2090_-83+2091insAGGGAGGGAGGAAGGGAGGGAGGAAGGG AGGGAGGATGGGAGGGAGGATGGGAGGGAGGAAGGGAGGGAGGATGGGAG GGAGACATGGAAGAAGGGGGAAGGGAGGCAGAAGGGAGGGAGAGGGGAGG GAGGAAGGGAGGGAGGATGGGAGGGAGGATGGGAGGGAGGATGGGAGGGA GGAAGGGAGGGAGGAAGGGAGGGAGACATGGAAGAAGGGGGAAGGGAGGC AGAAGGGAGGGAGAGGGGAGGGAGGAAGGGAGGGAGGATGGGAGGGAGGA AGGGAGGGAGGAAGGGAGGGAGGATGGGAGGGAGGAAGGGAGGGAGGATG GGAGGGAGGAAGGGAGGGAGGAAGGGAGGGAGGAAGGGAGGGAGGA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCBP3_chr21_45638725_45947450	45909826	C C	CCCACCCA others(367): Show CCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGG ACCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGC CCAGATACGGACCCCCCCCCACCCACTGCCCAGATACAGACCCCGGCCCA CCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCC CCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGAT ACAGACCCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTG CCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCA CCCACTGCCCAGATACGGACCCCCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0215 a0001c0002t0009g0215	1	292	0.0034	374	c.471 others(389): Show c.471+364_471+365insCCCCCCACCCACTGCCCAGATACGGACCCC CCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGA TACGGACCCCCCCCCACCCACTGCCCAGATACAGACCCCGGCCCACCCAC TGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCC CACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACAGA CCCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAG ATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCAC TGCCCAGATACGGACCCCCTCCACCCACTGCCCAGATACGGACC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE6B_chr4_620573_675782	669173	C C	CACTACTC others(367): Show CACTACTCCATGCTGCTGCCACTACCCCATGCTAGTCCCACTACCCCATG CTATTCCCCTACCCCATGCTATTCCCCTACCCCATGCTATTCCCCTACCC CATGCTATTCCCACTACCCCATGCTATTCCCACTACTCCATGCTGCTGCC ACTACCCCATGCTAGTCCCACTACCCCATGCTAGTCCCACTACCCCATGC TATTCCCGCTACCCCATGCTATTCCCGCTACCCCATGCTATTCCCCTACC CCATGCTATTCCCCTACCCCATGCTATTCCCGCTACCCCATGCTATTCCC GCTACCCCATGCTATTCCCGCTACCCCATGCTATTCCCCTACCCCATGCT ATTCCCCTACCCCATGCTATTCCCG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0043 a0001c0001t0011g0043	1	308	0.0033	374	c.250 others(391): Show c.2504-873_2504-872insACTACTCCATGCTGCTGCCACTACCCCA TGCTAGTCCCACTACCCCATGCTATTCCCCTACCCCATGCTATTCCCCTA CCCCATGCTATTCCCCTACCCCATGCTATTCCCACTACCCCATGCTATTC CCACTACTCCATGCTGCTGCCACTACCCCATGCTAGTCCCACTACCCCAT GCTAGTCCCACTACCCCATGCTATTCCCGCTACCCCATGCTATTCCCGCT ACCCCATGCTATTCCCCTACCCCATGCTATTCCCCTACCCCATGCTATTC CCGCTACCCCATGCTATTCCCGCTACCCCATGCTATTCCCGCTACCCCAT GCTATTCCCCTACCCCATGCTATTCCCCTACCCCATGCTATTCCCG	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21			chr4	TogoVar
PDIA2_chr16_278164_292215	285909	C C	CCCAACCC others(367): Show CCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTT CTCCCAACCCCAACCCCGCAGTTCTCCCAACCCCAACCCCGCAGTTCTCC CAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAAC CCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCA ACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCGCGGT TCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTC CCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAA CCCCGCGGTTCTCCCAACCCCAACA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0031 a0003c0031	a0003c0031t0001 a0003c0031t0001	a0003c0031t0001g0155 a0003c0031t0001g0155	1	436	0.0023	374	c.111 others(391): Show c.1119+214_1119+215insAACCCCAACCCCAACCCCGCGGTTCTCC CAACCCCGCGGTTCTCCCAACCCCAACCCCGCAGTTCTCCCAACCCCAAC CCCGCAGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTC TCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCC AACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTC CCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAA CCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTT CTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACACCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAGAAAG others(367): Show CAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAAGAAG AAAGAAAGAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAATAAGAAAGAA AGAAAGAAAGAAAGAAAGAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAAAAAAGA AGAAAGAAAGAAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0197 a0002c0002t0001g0197	1	342	0.0029	374	c.20- others(389): Show c.20-3989_20-3988insTTCTTTCTTTCTTTTCTTTCTTTCTTCTTT TTTTCTTTTCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTATTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTCT TTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PERM1_chr1_970198_987093	976907	C C	CAACCCCG others(367): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC ACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCC CGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03704.hp2 HG02683.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0036 a0001c0001 a0001c0036	a0001c0001t0007 a0001c0036t0007 a0001c0001t0007 a0001c0036t0007	a0001c0001t0007g0033 a0001c0036t0007g0171 a0001c0001t0007g0033 a0001c0036t0007g0171	2	408	0.0049	374	c.215 others(391): Show c.2150-284_2150-283insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGC GGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGG GGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAG TGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977572	C C	CCAACCCC others(367): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCC GGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGC AACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCC CACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC CGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03704.hp2 HG02683.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0036 a0001c0001 a0001c0036	a0001c0001t0007 a0001c0036t0007 a0001c0001t0007 a0001c0036t0007	a0001c0001t0007g0033 a0001c0036t0007g0171 a0001c0001t0007g0033 a0001c0036t0007g0171	2	408	0.0049	374	c.215 others(391): Show c.2150-949_2150-948insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGA GGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCG GGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGT TCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGA GTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGG GTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGG CGGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PIGQ_chr16_564968_589109	571086	T T	TGTGTCTG others(367): Show TGTGTCTGCCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTG TGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTG TGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTG TGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCG TGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAG CCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTGGCTAGCCTGGCGCCC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0047 a0003c0003t0003g0047	1	408	0.0025	374	c.-10 others(389): Show c.-10+994_-10+995insCTGCCTAGCCTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTG GTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGG CTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PLEKHN1_chr1_961482_980865	976907	C C	CAACCCCG others(367): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC ACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCC CGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0001 a0001c0001t0015g0001	1	422	0.0024	374	c.23 others(385): Show c.2332_*2333insAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCG CCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACC AACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGC CCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1043		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977572	C C	CCAACCCC others(367): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCC GGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGC AACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCC CACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC CGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02486.hp2 HG03704.hp1 others(2): Show HG02129.hp2 HG02486.hp2 HG03704.hp1 HG04199.hp1 NA18943.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0015 a0001c0007t0001 others(2): Show a0001c0001t0001 a0001c0001t0015 a0001c0007t0001 a0002c0002t0001 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0015g0001 a0001c0007t0001g0001 others(2): Show a0001c0001t0001g0001 a0001c0001t0015g0001 a0001c0007t0001g0001 a0002c0002t0001g0012 a0003c0005t0001g0018	5	422	0.0119	374	c.29 others(385): Show c.2997_*2998insCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCC CCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1708		chr1	TogoVar

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