Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
JAZF1_chr7_27825577_28185795	28110504	A A	AAAGGAAA others(242): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	206	0.0049	249	c.115 others(268): Show c.115+69958_115+69959insCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
KCNK2_chr1_215077737_215242090	215209700	T T	TATTATAT others(242): Show TATTATATATTATAATATATATTATATATTATATAATATATATTATATAA TATATAATATATATTATAATATATAATATATATTATATAATATATATTAT ATAATATATAATATATATTATATATTATATAATATATAATATATATTATA TATTATATAATATATAATATATATTATATATTATATATATATAATATATA TTATATATATTAAATATATATTATATATATTAAATATATATAATATATAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	260	0.0039	249	c.963 others(268): Show c.963+14609_963+14610insTTATATATTATAATATATATTATATA TTATATAATATATATTATATAATATATAATATATATTATAATATATAATA TATATTATATAATATATATTATATAATATATAATATATATTATATATTAT ATAATATATAATATATATTATATATTATATAATATATAATATATATTATA TATTATATATATATAATATATATTATATATATTAAATATATATTATATAT ATTAAATATATATAATATATAAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KDM4B_chr19_4964113_5158598	5131563	A A	AGGCAGGG others(242): Show AGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGG GCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGC TGGTGGCGGGGGAGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCA GGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	270	0.0037	249	c.178 others(266): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGG CAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGG GGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGCGGGGGAGGGGG	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(242): Show AGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGG GCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGC TGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCA GGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	270	0.0037	249	c.178 others(266): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGG CAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGG GGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGCGGGGGAGGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KDM4B_chr19_4964113_5158598	5131575	G G	GGGGGGCA others(242): Show GGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGG GGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTG GGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGG AGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGG GCAGGTGGGGCACAGGGGAGCTGGTGGTGGGGGAGGGGGGCAGGGGAGGA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	270	0.0037	249	c.178 others(266): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGG CAGGTGGGGCACAGGGGAGCTGGTGGTGGGGGAGGGGGGCAGGGGAGGAG GGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGCGGGGGAGGGGG	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(242): Show AGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGG GGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGG GCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGC TGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0149 a0001c0001t0005g0149	1	270	0.0037	249	c.178 others(266): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGG CAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGG GGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGG AGCTGGTGGCGGGGGAGGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KIAA0825_chr5_94145851_94623604	94608454	T T	TATATATA others(242): Show TATATATATATTATATATATATATTATATATATAATATATATTATATATA TAATATATATATTATATATATAAAATATATATATTATATATATAATATAT ATTATATATATAATATATATATTTTATATATATAATATATATTATATATA TAATATATATATATTATATATAATATATATTATATATATAAAATATATAT ATTATATATATAATATATATTATATATATAATATATATATTATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0037 a0003c0002t0037	a0003c0002t0037g0043 a0003c0002t0037g0043	1	54	0.0185	249	c.-15 others(270): Show c.-153+10045_-153+10046insTATATATATAATATATATATTATA TATATAATATATATTATATATATAATATATATATTTTATATATATAATAT ATATTATATATAATATATATATATTATATATATAATATATATTATATATA TAAAATATATATATTATATATATAATATATATTATATATATAATATATAT ATTTTATATATATAATATATATATTATATATATAATATATATTATATATA TAATATATATATATAATATATATAT	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	1/20			chr5	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(242): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCG GGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGC GGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGG GGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCG GGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0098 a0002c0002t0003g0098	1	375	0.0027	249	c.317 others(266): Show c.317+1409_317+1410insGGGGGGCGGGAACGGCGCTGCGGGGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGGGGCGGGAACGGCGCTGCGGGGG GGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGC GGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCG GGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(242): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCG GGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTG CGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGC GGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCG	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA20129.hp1 NA19012.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0030 a0002c0002t0011 a0002c0002t0030	a0002c0002t0011g0125 a0002c0002t0030g0080 a0002c0002t0011g0125 a0002c0002t0030g0080	2	375	0.0053	249	c.317 others(266): Show c.317+1409_317+1410insGGGGGGCGGGAACGGCGCTGCGGGGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGGGGGCGGGAACGGCGCTGCGGGG GGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGG CGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGC GGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(242): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGGCGGGAACGGCGCTGC GGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTG CGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGC GGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0003 a0013c0016t0003	a0013c0016t0003g0093 a0013c0016t0003g0093	1	375	0.0027	249	c.317 others(266): Show c.317+1409_317+1410insGGGGGGCGGGAACGGCGCTGCGGGGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGGGCGGGAACGGCGCTGCGGGGG GGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGG CGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGC GGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035438	C C	CGGGGGGG others(242): Show CGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGC GGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTG CGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGC GGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCG	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0010 a0002c0002t0003g0010	1	375	0.0027	249	c.317 others(266): Show c.317+1409_317+1410insGGGGGGGCGGGAACGGCGCTGCGGGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGGGGCGGGAACGGCGCTGCGGGG GGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGG CGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGC GGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KLHL23_chr2_169728832_169756878	169738992	T T	TCCTCCCC others(242): Show TCCTCCCCCTCTCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCCTCCCCCT CCTCCCCCCTCCCTCTCCTCCCCCTGCTCCCCTCCCCCTCCTCCCTCTCC TCCCCCTCCCCCTCCTCCCTCTCCTCCCCCTTCCCCTCCCCCTCCCCCTC CTCCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCC CCCCTCCCTCTCCTCCCCCTCCTCTCCCCTCCCTCTCTTCCCCCTGCTCC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0115	a0001c0001t0115g0043 a0001c0001t0115g0043	1	400	0.0025	249	c.121 others(268): Show c.1214-2386_1214-2385insCTCTCCCCCTCCTCCCCCCTCCCCCT CCTCCCCCCTCCCCCTCCTCCCCCCTCCCTCTCCTCCCCCTGCTCCCCTC CCCCTCCTCCCTCTCCTCCCCCTCCCCCTCCTCCCTCTCCTCCCCCTTCC CCTCCCCCTCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTC CCCCTCCCCCTCCTCCCCCCTCCCTCTCCTCCCCCTCCTCTCCCCTCCCT CTCTTCCCCCTGCTCCCCTCCCC	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
KREMEN1_chr22_29068035_29151820	29120414	A A	AGGAAACA others(242): Show AGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGG TGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGG GAGAGGTGATGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGA GGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAAC AGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATAAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0224 a0002c0003t0003g0224	1	368	0.0027	249	c.353 others(264): Show c.353-915_353-914insAGGAAATGGAGGAGGGAGAGGTGATGATGG AAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGA TGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGT GATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAG GGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATAATGGAAACAGG GAGGAGGGAGAGGTGATGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LAMC1_chr1_183018420_183150592	183149589	T T	TCACACCC others(242): Show TCACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTGCTCA CACACCACACAGCCCACACCCCTCCTCACACACCACACAGCCCACACCCC TGTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTGCTCACACACC ACACAGCCCACACCCCTCCTCACACACCACACAGCCCACACCCCTCTCCT CCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACCACAGAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0026 a0001c0020t0026	a0001c0020t0026g0132 a0001c0020t0026g0132	1	308	0.0033	249	c.67 others(260): Show c.6799_*6800insCACACCCCTCTCCTCACACACCACACAGCTCACA CCCCTCTCCTGCTCACACACCACACAGCCCACACCCCTCCTCACACACCA CACAGCCCACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTC TCCTGCTCACACACCACACAGCCCACACCCCTCCTCACACACCACACAGC CCACACCCCTCTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCC TCACACCACAGAGCC	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3998		chr1	TogoVar
MAD1L1_chr7_1810795_2237945	1940933	C C	CCCCAGGC others(242): Show CCCCAGGCCTCACCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCT TCCTCTCCCAGGCCTCAGCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCT CCTCTTCCTCCCCCAGGCCTCACCCTCCTCTTCCTCCCCCCGCAGGCCTC ACCCTCCTCTTCCTCTCCCAGGCCTCAGCCTCCTCTTCCTCCCCCCGCAG GCCTCACCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTCCTCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	264	0.0038	249	c.159 others(268): Show c.1597-4037_1597-4036insAGAGGAAGAGGAGGGTGAGGCCTGCG GGGGGAGGAAGAGGAGGGTGAGGCCTGCGGGGGGAGGAAGAGGAGGCTGA GGCCTGGGAGAGGAAGAGGAGGGTGAGGCCTGCGGGGGGAGGAAGAGGAG GGTGAGGCCTGGGGGAGGAAGAGGAGGGTGAGGCCTGCGGGGGGAGGAAG AGGAGGCTGAGGCCTGGGAGAGGAAGAGGAGGGTGAGGCCTGCGGGGGGA GGAAGAGGAGGGTGAGGCCTGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1940974	C C	CCCTCCTC others(242): Show CCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTCCTCTCCCAGG CCTCAGCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTCCTCTC CCAGGCCTCAGCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTC CTCCCCCCGCAGGCCTCACCCTCCTCTTCCTCTCCCAGGCCTCACCCTCC TCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTCCTCTCCCAGGCCTCAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	264	0.0038	249	c.159 others(268): Show c.1597-4078_1597-4077insCTGAGGCCTGGGAGAGGAAGAGGAGG GTGAGGCCTGCGGGGGGAGGAAGAGGAGGGTGAGGCCTGGGAGAGGAAGA GGAGGGTGAGGCCTGCGGGGGGAGGAAGAGGAGGGTGAGGCCTGCGGGGG GAGGAAGAGGAGGCTGAGGCCTGGGAGAGGAAGAGGAGGGTGAGGCCTGC GGGGGGAGGAAGAGGAGGCTGAGGCCTGGGAGAGGAAGAGGAGGGTGAGG CCTGCGGGGGGAGGAAGAGGAGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1940974	C C	CCCTCCTC others(242): Show CCCTCCTCTTCCTCTCCCAGGCCTCAGCCTCCTCTTCCTCCCCCCGCAGG CCTCACCCTCCTCTTCCTCTCCCAGGCCTCAGCCTCCTCTTCCTCCCCCC GCAGGCCTCACCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTC CTCTCCCAGGCCTCACCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCC TCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTCCTCTCCCAGGCCTCAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0158 a0001c0006t0001g0158	1	264	0.0038	249	c.159 others(268): Show c.1597-4078_1597-4077insCTGAGGCCTGGGAGAGGAAGAGGAGG GTGAGGCCTGCGGGGGGAGGAAGAGGAGGGTGAGGCCTGCGGGGGGAGGA AGAGGAGGGTGAGGCCTGGGAGAGGAAGAGGAGGGTGAGGCCTGCGGGGG GAGGAAGAGGAGGGTGAGGCCTGCGGGGGGAGGAAGAGGAGGCTGAGGCC TGGGAGAGGAAGAGGAGGGTGAGGCCTGCGGGGGGAGGAAGAGGAGGCTG AGGCCTGGGAGAGGAAGAGGAGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1941000	G G	GCCTCCTC others(242): Show GCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTCCTCTCCCAGG CCTCAGCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTCCTCCC CCCGCAGGCCTCACCCTCCTCTTCCTCTCCCAGGCCTCACCCTCCTCTTC CTCCCCCCGCAGGCCTCACCCTCCTCTTCCTCTCCCAGGCCTCAGCCTCC TCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTCCTCTCCCAGGCCTCAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	264	0.0038	249	c.159 others(268): Show c.1597-4104_1597-4103insGTGAGGCCTGGGAGAGGAAGAGGAGG GTGAGGCCTGCGGGGGGAGGAAGAGGAGGCTGAGGCCTGGGAGAGGAAGA GGAGGGTGAGGCCTGCGGGGGGAGGAAGAGGAGGGTGAGGCCTGGGAGAG GAAGAGGAGGGTGAGGCCTGCGGGGGGAGGAAGAGGAGGGTGAGGCCTGC GGGGGGAGGAAGAGGAGGCTGAGGCCTGGGAGAGGAAGAGGAGGGTGAGG CCTGCGGGGGGAGGAAGAGGAGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18			chr7	TogoVar
MAN2B2_chr4_6570189_6628362	6579271	T T	TCACCACC others(242): Show TCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCAC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	362	0.0028	249	c.391 others(264): Show c.391+781_391+782insTCACCACCACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCA CCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCATC ACCACCACCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K13_chr3_185358136_185494094	185453800	T T	TATATATA others(242): Show TATATATATATGATACATATATATGATACATATATATATGATACATATAT ATCATACATATATATGATACATATATATGATACATATATATGATACATAT ATATGATACATATATATGAGACATATATATGATACATATATATGAGACAT ATATATGATACATATATATGAGACATATATATGATACATATATATGAGAC ATATATATGATACATATATATGAGATATATATATGATACATATATATGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0002 a0006c0014t0002	a0006c0014t0002g0208 a0006c0014t0002g0208	1	278	0.0036	249	c.127 others(268): Show c.1278+2430_1278+2431insTACATATATATATGATACATATATAT CATACATATATATGATACATATATATGATACATATATATGATACATATAT ATGATACATATATATGAGACATATATATGATACATATATATGAGACATAT ATATGATACATATATATGAGACATATATATGATACATATATATGAGACAT ATATATGATACATATATATGAGATATATATATGATACATATATATGAGAT ATATATATGATACATATATATGA	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19477855	G G	GGGGGGAG others(242): Show GGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGAG GGGGGAGGGGGGAGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAG GGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGG GGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGG GAGGGGGGAGGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGAGGGGGA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	163	0.0061	249	c.525 others(266): Show c.525+8626_525+8627insTCCCCCTCTCCCCCCTCTCCCCCCTCCC CCCTCTCCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCC TCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTC TCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCC CTCTCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCTCCCCCCTCCCCCCTC TCCCCCTCTCCCCCCTCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19477857	G G	GGGGAGGG others(242): Show GGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGAGAG GGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGG GGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGG GGAGGGGGGAGGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGAGGGGG AGGGGGGAGAGAGGGGGAGAGAGGGGGAGAGGGGGGAGAGAGGGGGGAGC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	163	0.0061	249	c.525 others(266): Show c.525+8624_525+8625insGCTCCCCCCTCTCTCCCCCCTCTCCCCC TCTCTCCCCCTCTCTCCCCCCTCCCCCTCTCCCCCCTCTCCCCCCTCCCC CCTCTCCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCT CTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCC CCTCTCCCCCCTCCCCCCTCCCCTCTCTCCCCCCTCTCCCCCCTCCCCCC TCTCCCCCTCTCCCCCCTCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19477974	A A	AGAGAGGG others(242): Show AGAGAGGGAGGGAGGGGTGGGGAGAGAGAGAGAGAGGGAGGGAGGGATGG GGGAGAGAGAGGGGAGAGGGGAGGGAGAGGGGGGAGAGGGAGGAGAGAGG GGGGAGAGGGGGAGAGAGGGGGGAGATGGGGGAGAGGGGGAGAGGGGGGA GGGAGGGGGAGAGGGGGAGAGGGGGGAGAGAGGTGGGGGAGAGGGGGGAG AGAGGTGGGGGAGAGGGGGGAGAGAGGTGGGGGAGAGGGGGGAGAGAGGT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0156 a0002c0003t0009g0156	1	163	0.0061	249	c.525 others(266): Show c.525+8507_525+8508insACCTCTCTCCCCCCTCTCCCCCACCTCT CTCCCCCCTCTCCCCCACCTCTCTCCCCCCTCTCCCCCACCTCTCTCCCC CCTCTCCCCCTCTCCCCCTCCCTCCCCCCTCTCCCCCTCTCCCCCATCTC CCCCCTCTCTCCCCCTCTCCCCCCTCTCTCCTCCCTCTCCCCCCTCTCCC TCCCCTCTCCCCTCTCTCTCCCCCATCCCTCCCTCCCTCTCTCTCTCTCT CCCCACCCCTCCCTCCCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
METRNL_chr17_83074609_83100122	83090384	C C	CCCCCACA others(242): Show CCCCCACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACA CACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACCCCGC CCCACACACACACCCCCCGCCCCCCACACACACACACCCCCGCCCCACAC ACACACACCCCCCGCCCCACACACACACCCCCCGCCCCACACACACACAC ACCCCCGCCCCACACACACACCCCCCGCCCCCCACACACACACACCCCCG	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	399	0.0025	249	c.557 others(266): Show c.557-2779_557-2778insACACACACACCCCGCCCCACACACACAC CCCCCGCCCCACACACACACACCCCGCCCCACACACACACCCCCCGCCCC ACACACACACACCCCGCCCCACACACACACCCCCCGCCCCCCACACACAC ACACCCCCGCCCCACACACACACACCCCCCGCCCCACACACACACCCCCC GCCCCACACACACACACACCCCCGCCCCACACACACACCCCCCGCCCCCC ACACACACACACCCCCGCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MMD2_chr7_4900998_4964187	4959821	G G	GGGTGGAG others(242): Show GGGTGGAGGGAGTGGAAAGTGGGGGGTTGGGGGGAGTGGGGGACCTGGGG GTGGAGGAAGTGGGGGGTTCGTGGGAAGAAGGGGACCTGGAGGTGGAGGG AGTGGGAAGTCGGGGTGTTGGGGGGGGAGTGAGGGGGTTAGTGGGAAGAG AGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGGAGT GAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	382	0.0026	249	c.-80 others(258): Show c.-805_-804insACTTCCCACTCCCCCAACCTCCAAGTCCCTCTCTTC CCACTAACCCCCTCACTCCCCCCCCAACACCCCCACTTCCCACTCCCCCA ACCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCCAACAC CCCGACTTCCCACTCCCTCCACCTCCAGGTCCCCTTCTTCCCACGAACCC CCCACTTCCTCCACCCCCAGGTCCCCCACTCCCCCCAACCCCCCACTTTC CACTCCCTCCACC	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		635		chr7	TogoVar
MPPED1_chr22_43407014_43512848	43475489	T T	TGGTGGTG others(242): Show TGGTGGTGATGGTGATGATGGTGATGCTGATGGTATAGTGACGATGATGG TGATAATAATGGGGATGATGGTGATGGTGATTATGGTGATGTTGATAATG GTGGTGATGGTGGCAATGTTGGTGATGATGGTAATGATAATGGTGGTGGG AATGATGATGGTAAGGTAATGACAATGATGAGGGTGATGGTGGTGGTGGT ATGATCATAATAGTGAGGGTGGTGATGGTGATGGTGATGATGATGATTGC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0181 a0001c0001t0004g0181	1	250	0.0040	249	c.632 others(264): Show c.632+529_632+530insGTGGTGATGGTGATGATGGTGATGCTGATG GTATAGTGACGATGATGGTGATAATAATGGGGATGATGGTGATGGTGATT ATGGTGATGTTGATAATGGTGGTGATGGTGGCAATGTTGGTGATGATGGT AATGATAATGGTGGTGGGAATGATGATGGTAAGGTAATGACAATGATGAG GGTGATGGTGGTGGTGGTATGATCATAATAGTGAGGGTGGTGATGGTGAT GGTGATGATGATGATTGCG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496613	G G	GTGGTGGA others(242): Show GTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGT GGAGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGGTGGTGGTGGTGGAGG TGGTGGTGGTGGAGGTAGTGGTGGTGGTGGAGGTGATGGTGGAGGTAGTG GTGGTGGTGGAGGTGATGGTGGAGGTAGTGGTGGTGGAGGTGGTGGTGGT GGAGGTGGTGGTGGTGGAGGTGATGGTGGAGGTAGTGGTGGTGGAGGTGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0085 a0001c0002t0025g0085	1	250	0.0040	249	c.633 others(266): Show c.633-1614_633-1613insGTGGTGGTGGTGGAGGTGGTGGTGGTGG AGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGGTG GTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTGGTGGAGGTGAT GGTGGAGGTAGTGGTGGTGGTGGAGGTGATGGTGGAGGTAGTGGTGGTGG AGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGATGGTGGAGGTAGTG GTGGTGGAGGTGATGGTGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43499800	G G	GTGGGTGG others(242): Show GTGGGTGGTGGTGGAGGTGGTGGTGGTGGTAGTGGAGGTGGTGGTGGTAG TGGAGGTGGTGGTGGTGGTGATGGTGGGTGGTGGTGGAGGTGGTGGTGGT GGTAGTGGAGGTGGTGGTGGTAGTGGAGGTGGTGGTGGTGGTGATGGTGG GTGGTGGTGGAGGTGGTGGTGGTGGTAGTGGAGGTGGTGGTGGTAGTGGA GGTGGTGGTGGTGGTGATGGGGGTGGCGGTGATGGGGGTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0226 a0001c0001t0008g0226	1	250	0.0040	249	c.748 others(266): Show c.748+1450_748+1451insTGGGTGGTGGTGGAGGTGGTGGTGGTGG TAGTGGAGGTGGTGGTGGTAGTGGAGGTGGTGGTGGTGGTGATGGTGGGT GGTGGTGGAGGTGGTGGTGGTGGTAGTGGAGGTGGTGGTGGTAGTGGAGG TGGTGGTGGTGGTGATGGTGGGTGGTGGTGGAGGTGGTGGTGGTGGTAGT GGAGGTGGTGGTGGTAGTGGAGGTGGTGGTGGTGGTGATGGGGGTGGCGG TGATGGGGGTGATGGTGGTGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500080	T T	TGGTGGTG others(242): Show TGGTGGTGGTGGTGGTGGTGAGGGAGGTGGTGATGGGGGTGGTGGTGGTG ATGGTGGAGGTGATGGAGGTGGTGGTGGTGGTGGTGGTGGTGATGGAGGT GGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGG TGGAGGTGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATG GTGATGGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGGAGGTGGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02922.hp1 HG02970.hp1 others(3): Show HG02258.hp2 HG02922.hp1 HG02970.hp1 HG03098.hp1 HG03225.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0169 a0001c0001t0005g0171 others(3): Show a0001c0001t0005g0010 a0001c0001t0005g0169 a0001c0001t0005g0171 a0001c0001t0005g0224 a0001c0001t0005g0225 a0001c0001t0005g0246	6	250	0.0240	249	c.748 others(266): Show c.748+1734_748+1735insGTGGTGGTGGTGGTGAGGGAGGTGGTGA TGGGGGTGGTGGTGGTGATGGTGGAGGTGATGGAGGTGGTGGTGGTGGTG GTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGA GGTGGTGGTGGTGATGGTGGAGGTGGTGGTGATGGTGGTGGTGGTGATGG GGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGTGGTG ATGGTGATGGAGGTGGCGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MSH4_chr1_75791882_75918242	75906482	T T	TATACAAT others(242): Show TATACAATATTGTATATTGTATATATTATATATAATATATACAATATTAT ATATATTATATATAATATATACAATATTATATATATTATATATAATATAT ACAATATTATATATATTATATATCATATATATTATATATAATATATACAA TATTTATATATATTATATATATTATATATAATATATACATATTATATATT ATATATATAATATATATACATATTATATATATAATATATATACATATTAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02004.hp2 HG02148.hp1 others(2): Show HG01123.hp1 HG02004.hp2 HG02148.hp1 HG02273.hp1 HG04204.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0078 a0005c0006t0001g0079 a0005c0006t0001g0080 others(2): Show a0005c0006t0001g0078 a0005c0006t0001g0079 a0005c0006t0001g0080 a0005c0006t0001g0081 a0005c0006t0001g0082	5	332	0.0151	249	c.262 others(268): Show c.2620-6213_2620-6212insTACAATATTGTATATTGTATATATTA TATATAATATATACAATATTATATATATTATATATAATATATACAATATT ATATATATTATATATAATATATACAATATTATATATATTATATATCATAT ATATTATATATAATATATACAATATTTATATATATTATATATATTATATA TAATATATACATATTATATATTATATATATAATATATATACATATTATAT ATATAATATATATACATATTACA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSLN_chr16_755734_773862	767540	G G	GCGTGGAG others(242): Show GCGTGGAGGGGGGGGCGAGTGGAGGAGCCCCGGTGGAGGGGCGCGTGGAG GAGGGGCGCGTGGAGGAGGGGCGAGCGGGAGGAGGGGCACGTGGAGGGGG TGCGTGGAGGAGGGGCACGTGGGGGGGGGGCGCGTGGAGGAGGAGGGGCG CATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGG GCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGCGTGGGGGGGGCA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0017 a0017	a0017c0023 a0017c0023	a0017c0023t0001 a0017c0023t0001	a0017c0023t0001g0020 a0017c0023t0001g0020	1	388	0.0026	249	c.159 others(264): Show c.1596+83_1596+84insGCGAGTGGAGGAGCCCCGGTGGAGGGGCGC GTGGAGGAGGGGCGCGTGGAGGAGGGGCGAGCGGGAGGAGGGGCACGTGG AGGGGGTGCGTGGAGGAGGGGCACGTGGGGGGGGGGCGCGTGGAGGAGGA GGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGG AGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGCGTGGGG GGGGCACGTGGAGGGGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767641	A A	AGGGGGCC others(242): Show AGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCG TGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCG CGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGG GGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGT GGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGTGTGTG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	388	0.0026	249	c.159 others(266): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGT GGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGG CGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGG GGGCGCGTGGGGGTGTGTGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSR1_chr8_16102881_16197651	16189475	A A	ATATAAAA others(242): Show ATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTA TATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATAT AAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATA TATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0079 a0001c0006t0009g0079	1	330	0.0030	249	c.-5+ others(264): Show c.-5+3122_-5+3123insAATATATATAAAATAAGATTTTATATATAT AAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAA GATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAA TATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATT TTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATA TATAAAATAAGATTTTATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MYCBP2_chr13_77039657_77332094	77196722	T T	TTGGGAGG others(242): Show TTGGGAGGCTACTGTAATAATACAAATGAGAATGGCTGTGGCATGACCCA ACCTGATAGCAGTGGCAGTTTTCAGAAGTGGTTAGATACGGGATTTATTT TGAAAGTGGAAACGATAATATTTGCTCCCGAAGTGGATGTGTGTAAAAGA AAGAGTAGAATCAAGGATGACTCCAAGATTTTTGGCCTGAGGAAACAGAA GAATGAAGTTAACTCCATGCTGAGTCAGTTAACTGGGATGAGGAAGAACA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18953.hp2 NA18943.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0255 a0001c0001t0001g0095 a0001c0001t0001g0255	2	334	0.0060	249	c.384 others(268): Show c.3844-2479_3844-2478insTGTTCTTCCTCATCCCAGTTAACTGA CTCAGCATGGAGTTAACTTCATTCTTCTGTTTCCTCAGGCCAAAAATCTT GGAGTCATCCTTGATTCTACTCTTTCTTTTACACACATCCACTTCGGGAG CAAATATTATCGTTTCCACTTTCAAAATAAATCCCGTATCTAACCACTTC TGAAAACTGCCACTGCTATCAGGTTGGGTCATGCCACAGCCATTCTCATT TGTATTATTACAGTAGCCTCCCA	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	26/82			chr13	TogoVar
MYO16_chr13_108624611_109213005	109022340	T T	TTGTATAT others(242): Show TTGTATATACAAATGTATATTTGTATATTGTATATACAAATGTATATTTG TATATTGTATATACAAATGTATATTTGTATATTGTATATACAAATGTATA TTTGTATATTGTATATACAAATGTATATTTGTATATTGTATATACAAATA TACTATATTGTATATACAAATGTATATTGTATATACAAATGTATATTGTA TATACAAATGTATATTGTATATACAAATATATGTATATATGTATGTATTA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0022 a0022	a0022c0063 a0022c0063	a0022c0063t0003 a0022c0063t0003	a0022c0063t0003g0070 a0022c0063t0003g0070	1	152	0.0066	249	c.279 others(268): Show c.2796+2430_2796+2431insGTATATACAAATGTATATTTGTATAT TGTATATACAAATGTATATTTGTATATTGTATATACAAATGTATATTTGT ATATTGTATATACAAATGTATATTTGTATATTGTATATACAAATGTATAT TTGTATATTGTATATACAAATATACTATATTGTATATACAAATGTATATT GTATATACAAATGTATATTGTATATACAAATGTATATTGTATATACAAAT ATATGTATATATGTATGTATTAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
NACC2_chr9_136001537_136100289	136023099	A A	AGGAAGGA others(242): Show AGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAGGGAGGAGG GAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGAGGGAGGAG GGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGG AGGGAGGAGAGAGGAGGGAGGGAGGAGGGAGGGAGGAGGAAGGAGGAGAG AGGAGGGAGGGAGGAGGGGGGAGGGAGGAGGGGGGGAGGGAGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0088 a0001c0010t0088	a0001c0010t0088g0317 a0001c0010t0088g0317	1	348	0.0029	249	c.887 others(266): Show c.887-6671_887-6670insCCTCCCTCCTCCCTCCCCCCCTCCTCCC TCCCCCCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCT CCCTCCCTCCTCTCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCT CCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCGC CCTCCTGCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCT CCCTCCTCCCTCCCTCCTTCC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NEGR1_chr1_71390943_72287539	71793264	A A	ATATATAT others(242): Show ATATATATATATATATACATAATATATATATACACACACACATATATATA CACATATATATTATATATACATATATAATATATTATATATACATATATAA TATATTATATATACATATATAATATATTATATATACATATATACATATAT ATTATATATACATATATACATATATTATATATACATATATACATATATTA TATATACATATATATACATATATATGTATGTGTGTGTATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02922.hp1 HG02280.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0010 a0001c0002t0003g0044 a0001c0001t0002g0010 a0001c0002t0003g0044	2	64	0.0313	249	c.410 others(268): Show c.410-16968_410-16967insCACACACACATATACACACACATACA TATATATGTATATATATGTATATATAATATATGTATATATGTATATATAA TATATGTATATATGTATATATAATATATATGTATATATGTATATATAATA TATTATATATGTATATATAATATATTATATATGTATATATAATATATTAT ATATGTATATATAATATATATGTGTATATATATGTGTGTGTGTATATATA TATTATGTATATATATATATATA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NFILZ_chr19_8625633_8686151	8656289	C C	CAGCCCAC others(242): Show CAGCCCACCTCCTCCCTGAAGCCCACCTTCTCTCTGAAGCCCACCTCCTC CCGCAGCGCACCTCCTCCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTT CTCCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCTGAAGCCCA CCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCCACCTTCTCTCTGAAAC CCACCTCTTTCCGCAGCCCACCTTCTCCTCGAAGCCCACCTTCTCTCTGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0201 a0001c0001t0021g0201	1	366	0.0027	249	c.-16 others(270): Show c.-163-18247_-163-18246insTGAAGCCCACCTTCTCTCTGAAGC CCACCTCCTCCCGCAGCGCACCTCCTCCCTGAAGCCCACCTCTTCCCTGA AGCCCACCTTCTCCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCC CTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCCACCTTC TCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTCGAAGCCCACC TTCTCTCTGAAGCCCACCTCCTCCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(242): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATATATGTACAGTATGTATACCGTATACAGCATGTATACTGT ATATATGTACAGTATGTATACCGTATACAGTATGTATACCGTATACATAT ACAGTATGTATACCGTATACAGTATGTATACCGTATATATACACAGTATG TATACCGTATATATATACACAGTATGTATACCGTATATATATACACAGTA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0316 a0001c0005t0001g0316	1	362	0.0028	249	c.-75 others(268): Show c.-75+17711_-75+17712insTACTGTGTATATATATACGGTATACA TACTGTGTATATATATACGGTATACATACTGTGTATATATACGGTATACA TACTGTATACGGTATACATACTGTATATGTATACGGTATACATACTGTAT ACGGTATACATACTGTACATATATACAGTATACATGCTGTATACGGTATA CATACTGTACATATATACAGTATACATGCTGTATACAGTATACATGCTGT ATACAGTATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NLRP8_chr19_55942832_55993629	55993492	C C	CCCCCCTC others(242): Show CCCCCCTCCCCCCCTCCCCCCCTCTCCCCCCCTCTCCCCCCCCTCTCCCC CCCTCTCCCCCCCCTCTCCCCCCCCTCTCCCCCCCTCTCCCCCCCCTCCC CCACCTCTCCCCCCCTCTCCCCCCCTCCCCCCCTCCCCCCCTCCCCCCTC TCCCCCTCCCCCCTCTCCCCCTCCCTCCCCCTCCCCCCTCTCCCCCTCCC CCCTCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0120 a0001c0005t0013g0120	1	350	0.0029	249	c.55 others(260): Show c.5579_*5580insCCCCCTCCCCCCCTCCCCCCCTCTCCCCCCCTCT CCCCCCCCTCTCCCCCCCTCTCCCCCCCCTCTCCCCCCCCTCTCCCCCCC TCTCCCCCCCCTCCCCCACCTCTCCCCCCCTCTCCCCCCCTCCCCCCCTC CCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCCTCCCTCCCCCTCCC CCCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4864		chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993508	C C	CCCCCCCT others(242): Show CCCCCCCTCCTCTCCCCCCCCCTCCTCTCCCCCTCCCCCCTCCCCACCTC CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCC CCTCCCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTC CCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0000 a0000	a0000c0056 a0000c0056	a0000c0056t0006 a0000c0056t0006	a0000c0056t0006g0001 a0000c0056t0006g0001	1	350	0.0029	249	c.55 others(260): Show c.5595_*5596insCCCCCCTCCTCTCCCCCCCCCTCCTCTCCCCCTC CCCCCTCCCCACCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCCTCCCCTCCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4880		chr19	TogoVar
NOC4L_chr12_132139457_132157468	132149226	C C	CACCCCTA others(242): Show CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCCCTAATCCCCTCG GTGAGTGCGGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	294	0.0034	249	c.901 others(264): Show c.901+334_901+335insCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCAC ACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTCATACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136535880	G G	GGTGGAGG others(242): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00609.hp2 others(3): Show HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG02129.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0213 a0001c0001t0003g0311 a0001c0001t0007g0214 others(3): Show a0001c0001t0001g0213 a0001c0001t0003g0311 a0001c0001t0007g0214 a0001c0001t0007g0215 a0001c0001t0007g0216 a0001c0001t0007g0217	6	324	0.0185	249	c.140 others(266): Show c.140+8143_140+8144insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
OR10H1_chr19_15799549_15820664	15803429	G G	GAGGGAAG others(242): Show GAGGGAAGGAGAAGGGAAGGAGAGGTGAAGGAGAAGGGAAGGAGAAGGGA AGGAGAAGGGAAGGGAAAGAGGAGGGAAAGGGAAGGGGGAGGGAAGGAGA AGGGGGAGGGAAGGGGGAGGGAAGGAGAAGGGAAGGGGGAGGGAAGGGGG AGGGAAGGAGAAGGGGGAGGGAAGGGGGAGGGAAGGAGAAGGGGGAGGGA AGGGGGAGGGAAGGAGAAGGGAAGGGGGAGGGAAGGAGAAGGGAAGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02896.hp2 others(2): Show HG02257.hp1 HG02451.hp1 HG02896.hp2 HG02897.hp1 HG03130.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0015 a0004c0008t0023 a0004c0008t0015 a0004c0008t0023	a0004c0008t0015g0039 a0004c0008t0015g0105 a0004c0008t0023g0055 a0004c0008t0015g0039 a0004c0008t0015g0105 a0004c0008t0023g0055	5	398	0.0126	249	c.36 others(260): Show c.3651_*3652insTCTCCTTCCCTTCTCCTTCCCTCCCCCTTCCCTT CTCCTTCCCTCCCCCTTCCCTCCCCCTTCTCCTTCCCTCCCCCTTCCCTC CCCCTTCTCCTTCCCTCCCCCTTCCCTCCCCCTTCCCTTCTCCTTCCCTC CCCCTTCCCTCCCCCTTCTCCTTCCCTCCCCCTTCCCTTTCCCTCCTCTT TCCCTTCCCTTCTCCTTCCCTTCTCCTTCCCTTCTCCTTCACCTCTCCTT CCCTTCTCCTTCCCT	OR10H1	ENSG00000186723.4	transcript	ENST00000641419.1	protein_coding		1119		chr19	TogoVar
OR10H5_chr19_15782661_15805357	15803429	G G	GAGGGAAG others(242): Show GAGGGAAGGAGAAGGGAAGGAGAGGTGAAGGAGAAGGGAAGGAGAAGGGA AGGAGAAGGGAAGGGAAAGAGGAGGGAAAGGGAAGGGGGAGGGAAGGAGA AGGGGGAGGGAAGGGGGAGGGAAGGAGAAGGGAAGGGGGAGGGAAGGGGG AGGGAAGGAGAAGGGGGAGGGAAGGGGGAGGGAAGGAGAAGGGGGAGGGA AGGGGGAGGGAAGGAGAAGGGAAGGGGGAGGGAAGGAGAAGGGAAGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02896.hp1 others(2): Show HG02257.hp1 HG02451.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp2	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0014 a0003c0004 a0011c0011 a0001c0014 a0003c0004 a0011c0011	a0001c0014t0087 a0003c0004t0132 a0003c0004t0133 others(1): Show a0001c0014t0087 a0003c0004t0132 a0003c0004t0133 a0011c0011t0038	a0001c0014t0087g0071 a0003c0004t0132g0031 a0003c0004t0133g0031 others(2): Show a0001c0014t0087g0071 a0003c0004t0132g0031 a0003c0004t0133g0031 a0011c0011t0038g0053 a0011c0011t0038g0070	5	396	0.0126	249	c.84 others(260): Show c.8433_*8434insAGGGAAGGAGAAGGGAAGGAGAGGTGAAGGAGAA GGGAAGGAGAAGGGAAGGAGAAGGGAAGGGAAAGAGGAGGGAAAGGGAAG GGGGAGGGAAGGAGAAGGGGGAGGGAAGGGGGAGGGAAGGAGAAGGGAAG GGGGAGGGAAGGGGGAGGGAAGGAGAAGGGGGAGGGAAGGGGGAGGGAAG GAGAAGGGGGAGGGAAGGGGGAGGGAAGGAGAAGGGAAGGGGGAGGGAAG GAGAAGGGAAGGAGA	OR10H5	ENSG00000172519.10	transcript	ENST00000642092.2	protein_coding		3073		chr19	TogoVar
OR4F5_chr1_60419_76585	66249	A A	ATATATTA others(242): Show ATATATTATATATATTATATATATTATATATATTATATATATTATATATA TTATATATATTATATATATTATATATATTATATATATATTATATATATAA TATATATAATATATATAATATAATATATTTTATATATATATAATATATTA TATAATATAATATATATATTATATATATAATATATATATAATATAATATA ATATAATATATTATATTATATAATATATGATATAAATATAATATATATTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0058 a0003c0004t0003g0058	1	215	0.0047	249	c.9+6 others(260): Show c.9+678_9+679insTATTATATATATTATATATATTATATATATTATA TATATTATATATATTATATATATTATATATATTATATATATTATATATAT ATTATATATATAATATATATAATATATATAATATAATATATTTTATATAT ATATAATATATTATATAATATAATATATATATTATATATATAATATATAT ATAATATAATATAATATAATATATTATATTATATAATATATGATATAAAT ATAATATATATTTTA	OR4F5	ENSG00000186092.7	transcript	ENST00000641515.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
P2RY8_chrX_1457581_1542185	1468797	C C	CCCCTTCC others(242): Show CCCCTTCCCTTCCCCTCTCCCCTCCCTTTCCCCTCCCCTTCTCCCTCCCT CCCCTCTCCCCTCTCCCCTCCCTCTCCCTCTCCCCTCCCTCCCCTCTTCC CTCTCCCCTCTCCCCTCCCTACCCTCTCCCCCTCTCCCCCTCTCCCCTCT CCTCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCACCCTCTCCCCTCCCTT TATCCCTCTCCCTCTCCCCTCTCCCTTCCCTCTCTCCCTCCTTCACCTCT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0044 a0001c0001t0026g0044	1	114	0.0088	249	c.-24 others(266): Show c.-24-2216_-24-2215insAGAGGTGAAGGAGGGAGAGAGGGAAGGG AGAGGGGAGAGGGAGAGGGATAAAGGGAGGGGAGAGGGTGAGAGGGAAGG GGAGGGGAGAGGGGAGAGGAGGAGAGGGGAGAGGGGGAGAGGGGGAGAGG GTAGGGAGGGGAGAGGGGAGAGGGAAGAGGGGAGGGAGGGGAGAGGGAGA GGGAGGGGAGAGGGGAGAGGGGAGGGAGGGAGAAGGGGAGGGGAAAGGGA GGGGAGAGGGGAAGGGAAGGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PAK1_chr11_77317017_77479094	77332356	A A	AGGGAAGG others(242): Show AGGGAAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGGGAGGGGAGGGG AGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAGGG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGG GAGCGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0264 a0001c0001t0003g0264	1	302	0.0033	249	c.155 others(266): Show c.1551+373_1551+374insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCGCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PAK1_chr11_77317017_77479094	77332356	A A	AGGGAAGG others(242): Show AGGGAAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAGGG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGG GAGCGGGAGGGGAGGGGGAGGGGAGGGGAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02723.hp1 HG03139.hp1 HG01081.hp1 HG02723.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0251 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0251	3	302	0.0099	249	c.155 others(266): Show c.1551+373_1551+374insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCGCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCTCCC others(242): Show CCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCCTCCCCCT CCTCCCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCC CCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0198 a0003c0003t0002g0198	1	308	0.0033	249	c.226 others(268): Show c.2262+7511_2262+7512insTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTC CCCTTCCTCCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCCTCCTCCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCC CTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTC CTCCCCTCCCCTCCCCTCCTCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar

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