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
KIAA1958_chr9_112481827_112674397	112514833	G G	GCCCCGTC others(222): Show GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCTGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCACCCGGCCAGCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0211 a0001c0001t0005g0211	1	308	0.0033	229	c.-25 others(248): Show c.-25+27741_-25+27742insTCGGCCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCACCCGGCCAGCCCCCCGTCCGGGAGGGAGGTGGGG GGG	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112514853	G G	GGGGGGGT others(222): Show GGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCAC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	308	0.0033	229	c.-25 others(248): Show c.-25+27741_-25+27742insTCGGCCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGG	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
L3MBTL4_chr18_5949717_6419911	6185960	C C	CTTTTTTT others(222): Show CTTTTTTTTATTATTTTATTTTTTATTTTATTTTATTTTTTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0016	1	94	0.0106	229	c.982 others(248): Show c.982-14019_982-14018insATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAAAAAATAAAATAAAATAAAAAATAAAATAATAAAAA AAA	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	12/18			chr18	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CAGTGCCC others(222): Show CAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCGGTGC CCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGTGCCC GGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGCCTTA CCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	414	0.0024	229	c.171 others(246): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGG CACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCAC T	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCGGTG others(222): Show CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCAG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCGGTGC CCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGTGCCC GGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGCCTTA CCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0319 a0001c0013t0001g0319	1	414	0.0024	229	c.171 others(246): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGG CACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGG G	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCGGTG others(222): Show CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCA GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCGGTGC CCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGTGCCC GGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGCCTTA CCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0078 a0001c0003t0001g0078	1	414	0.0024	229	c.171 others(246): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGC ACTGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGG G	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
MAML3_chr4_139711753_140159184	140019098	T T	TTTTTTTT others(222): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0083 a0001c0001t0031g0083	1	152	0.0066	229	c.469 others(250): Show c.469-128132_469-128131insGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGG CGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGA CAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAP4K4_chr2_101692707_101899690	101785676	C C	CTTTTCTT others(222): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0201 a0001c0003t0004g0201	1	310	0.0032	229	c.124 others(246): Show c.124-5044_124-5043insTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT T	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32			chr2	TogoVar
MARCHF1_chr4_163519718_164389019	163836594	T T	TAAAAGAT others(222): Show TAAAAGATGCCTCCTAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGTGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCG GAGATCGCGCCACAGCACTCCAGCCTCGGCGACAAAACGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02165.hp2 HG02293.hp2 others(3): Show HG00741.hp1 HG02165.hp2 HG02293.hp2 NA18944.hp2 NA18963.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0017 a0001c0001t0001g0076 a0001c0001t0001g0089 others(3): Show a0001c0001t0001g0017 a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0009g0088 a0001c0002t0002g0080 a0001c0002t0003g0082	6	102	0.0588	229	c.111 others(248): Show c.111+17426_111+17427insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGTTTTGTCGCCGAGGCTGGAGTGCTGTGGCGCGA TCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACACCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTAGGAGGCATCT TTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163836594	T T	TAAAAGAT others(222): Show TAAAAGATGCCTCCTAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGTGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCG GAGATCGCGCCACAGCACTCCAGCCTGGGCGACAAAACGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0037 a0001c0001t0005g0037	1	102	0.0098	229	c.111 others(248): Show c.111+17426_111+17427insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGTTTTGTCGCCCAGGCTGGAGTGCTGTGGCGCGA TCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACACCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTAGGAGGCATCT TTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(222): Show TATATATATAATTATAATATAAGATAATTATATAATATATAATTTATATA TAATTATATATATATAATTTATATATAATATAATTATATAATATATAATT TATATATAATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATTATATAATTTATATATAATATAATTATATAA TATATAATTTATATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	229	c.-31 others(240): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATAATATATAAATTATATATTATATA ATTATATTATATATAAATTATATATTATATAATTATATTATATATAAATT ATATATTATATAATTATATTATATATAAATTATATATATATAATTATATA TAAATTATATATTATATAATTATCTTATATTATAATTATATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(222): Show TATATATATAATTATAATATAATATAATTATATAATATATAATTTATATA TAATTATATATATATAATTTATATATAATATAATTATATAATATATAATT TATATATAATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATTATATAATTTATATATAATATAATTATATAA TATATAATTTATATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	288	0.0035	229	c.-31 others(240): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATAATATATAAATTATATATTATATA ATTATATTATATATAAATTATATATTATATAATTATATTATATATAAATT ATATATTATATAATTATATTATATATAAATTATATATATATAATTATATA TAAATTATATATTATATAATTATATTATATTATAATTATATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MBTPS1_chr16_84048763_84121942	84050860	G G	GGTAAGGA others(222): Show GGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCC ACATGTGGGTAAGGAGAGCGGCAAGGCCCGCATGTGCTTAAGGAGAGCTG CAAGGCCGCATGTGGGTAAGAAGAGCTGCAAGGCCGCATGTGGGTAAGGA GAGCTGCAAGGCCCGCATGTGGGTAAGGAGAGCGGCAAGGCCCGCATGTG GGTAAGGAGAGCGGCAAGGCCCGCATGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	424	0.0024	229	c.35 others(240): Show c.3588_*3589insGCACATGCGGGCCTTGCCGCTCTCCTTACCCACA TGCGGGCCTTGCCGCTCTCCTTACCCACATGCGGGCCTTGCAGCTCTCCT TACCCACATGCGGCCTTGCAGCTCTTCTTACCCACATGCGGCCTTGCAGC TCTCCTTAAGCACATGCGGGCCTTGCCGCTCTCCTTACCCACATGTGGGC CTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTAC	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2902		chr16	TogoVar
MLC1_chr22_50054391_50090426	50063786	A A	ATGGGCCA others(222): Show ATGGGCCACTCACCTCCCCAGCACCTGCACCGCAGGCCACTCACCTCCCC AGCTGGGCACCCCTGTGGGCCACTCACCTCCCCAGCGCCCCCACCCCACA GGCTTCTCACCTCCCTGGCTGGGCTCCCCCGTGGGCCACTCACCTCCCCA GCGCCCCCACCGCAGGCCACTCACCTCCCCAGCGACCACCCCCACCCCAC AGGCCACTCACCTCCCCGGCTGGCACCCCG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	212	0.0047	229	c.105 others(246): Show c.1059+247_1059+248insCGGGGTGCCAGCCGGGGAGGTGAGTGGC CTGTGGGGTGGGGGTGGTCGCTGGGGAGGTGAGTGGCCTGCGGTGGGGGC GCTGGGGAGGTGAGTGGCCCACGGGGGAGCCCAGCCAGGGAGGTGAGAAG CCTGTGGGGTGGGGGCGCTGGGGAGGTGAGTGGCCCACAGGGGTGCCCAG CTGGGGAGGTGAGTGGCCTGCGGTGCAGGTGCTGGGGAGGTGAGTGGCCC A	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	11/11			chr22	TogoVar
MLC1_chr22_50054391_50090426	50063832	C C	CCCCAGCT others(222): Show CCCCAGCTGGGCACCCCTGTGGGCCACTCACCTCCCCAGCGCCCCCACCC CACAGGCTTCTCACCTCCCTGGCTGGGCTCCCCCGTGGGCCACTCACCTC CCCAGCGCCCCCACCGCAGGCCACTCACCTCCCCAGCGACCACCCCCACC CCACAGGCCACTCACCTCCCCGGCTGGGCACCCCGTGGGCCACTCACCTC CCCAGCACCTGCACCGCAGGCCACTCACCT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	212	0.0047	229	c.105 others(246): Show c.1059+201_1059+202insAGGTGAGTGGCCTGCGGTGCAGGTGCTG GGGAGGTGAGTGGCCCACGGGGTGCCCAGCCGGGGAGGTGAGTGGCCTGT GGGGTGGGGGTGGTCGCTGGGGAGGTGAGTGGCCTGCGGTGGGGGCGCTG GGGAGGTGAGTGGCCCACGGGGGAGCCCAGCCAGGGAGGTGAGAAGCCTG TGGGGTGGGGGCGCTGGGGAGGTGAGTGGCCCACAGGGGTGCCCAGCTGG G	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	11/11			chr22	TogoVar
MLPH_chr2_237482251_237560322	237544193	G G	GAGTGGAG others(222): Show GAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGCACGGTAG TGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGT GGTGAGTGGGTGCACGGTAGTGAGTCGGGGGACAGTGGTGAGTGGGGGAC AGTAGTGAGTGGGGGCACAGTGGTGAGTGGGTACAGTGGTGAGTGGGGGG ACAGTGGTGAGTGGAGGGGACAGTCGTGAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0118 a0006c0006t0003g0118	1	286	0.0035	229	c.153 others(248): Show c.1539+1534_1539+1535insAGTGGAGGGGACAGTGGTGAGTGGGG ACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGG ACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGTGCACGGTAGTGAGTCG GGGGACAGTGGTGAGTGGGGGACAGTAGTGAGTGGGGGCACAGTGGTGAG TGGGTACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTCGT GAA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(222): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCGTCCGGGAGGGAGGTGGGGGGGGGGT CAGCCCCCCCGCCCGGCCAGCCGTGCCATCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCGTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGAGGGT CAGCCCCCCGCCCGGCCAGCCGCCCAGTCC	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18959.hp1 NA19080.hp1 HG02129.hp1 NA18959.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0004t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0001	a0001c0001t0002g0048 a0001c0001t0003g0061 a0001c0004t0001g0049 a0001c0001t0002g0048 a0001c0001t0003g0061 a0001c0004t0001g0049	3	256	0.0117	229	c.241 others(248): Show c.241+14477_241+14478insGGACTGGGCGGCTGGCCGGGCGGGGG GCTGACCCTCCCCACCTCCCTCCCGGACGGCACGGCTGGCCACGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGGG GCTGACCCCCCCCCCACCTCCCTCCCGGACGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MYO16_chr13_108624611_109213005	109023374	A A	ATATATTA others(222): Show ATATATTATACAGATATAAATATATATTTATATATTATACAGATATAAAT ATATATTTATATATTATACAGATATAAATATATATTTATATATTATACAG ATATAAATATATATTTATATATTATACAGATATAAATATATATTTATATA TTATACAGATATAAATATATATTTATATATTATACAGATATAAATATATA TTTATATATTATACAGATATAAATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01175.hp1 HG01952.hp2 others(8): Show HG00558.hp2 HG01175.hp1 HG01952.hp2 HG01978.hp2 HG02109.hp1 HG02109.hp2 HG03139.hp2 HG03540.hp1 NA18989.hp2 NA18995.hp2 NA19011.hp1	a0002 a0004 a0011 a0002 a0004 a0011	a0002c0001 a0002c0050 a0002c0052 others(2): Show a0002c0001 a0002c0050 a0002c0052 a0004c0003 a0011c0021	a0002c0001t0001 a0002c0001t0002 a0002c0001t0007 others(6): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0007 a0002c0001t0019 a0002c0050t0003 a0002c0052t0001 a0004c0003t0001 a0004c0003t0002 a0011c0021t0001	a0002c0001t0001g0060 a0002c0001t0002g0085 a0002c0001t0002g0147 others(8): Show a0002c0001t0001g0060 a0002c0001t0002g0085 a0002c0001t0002g0147 a0002c0001t0007g0084 a0002c0001t0019g0125 a0002c0050t0003g0093 a0002c0052t0001g0094 a0004c0003t0001g0087 a0004c0003t0001g0122 a0004c0003t0002g0109 a0011c0021t0001g0132	11	152	0.0724	229	c.279 others(248): Show c.2796+3605_2796+3606insTTATATATTATACAGATATAAATATA TATTTATATATTATACAGATATAAATATATATTTATATATTATACAGATA TAAATATATATTATATTATACAGATATAAATATATATTTATATATTATAC AGATATAAATATATATTTATATATTATACAGATATAAATATATATTTATA TATTATACAGATATAAATATATATTTATATATTATACAGATATAAATATA TAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CAGTGCCC others(222): Show CAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCGGTGC CCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGTGCCC GGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGCCTTA CCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	384	0.0026	229	c.-41 others(240): Show c.-4100_-4099insAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCA CACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCC CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCGGTG others(222): Show CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCAG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCGGTGC CCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGTGCCC GGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGCCTTA CCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	384	0.0026	229	c.-41 others(240): Show c.-4100_-4099insCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCT CCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCC CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCGGTG others(222): Show CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCA GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCGGTGC CCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGTGCCC GGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGCCTTA CCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	384	0.0026	229	c.-41 others(240): Show c.-4100_-4099insCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCT CCACACCCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCC CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NEGR1_chr1_71390943_72287539	71793264	A A	ATATATAT others(222): Show ATATATATATATATATACACATAATATATATATACACACACACATATATA TACACATATATATTATATATACATATATAATATATTATATATACATATAT AATATATTATATATACATATATACATATATATTATATATACATATATACA TATATTATATATACATATATACATATATTATATACACATATATATACATA TATATGTATGTGTGTGTATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0054 a0001c0001t0006g0054	1	64	0.0156	229	c.410 others(248): Show c.410-16968_410-16967insCACACACACATATACACACACATACA TATATATGTATATATATGTGTATATAATATATGTATATATGTATATATAA TATATGTATATATGTATATATAATATATATGTATATATGTATATATAATA TATTATATATGTATATATAATATATTATATATGTATATATAATATATATG TGTATATATATGTGTGTGTGTATATATATATTATGTGTATATATATATAT ATA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71793264	A A	ATATATAT others(222): Show ATATATATATATATATATACATAATATATATATACACACACACATATATA TACACATATATATTATATATACATATATAATATATTATATATACATATAT AATATATTATATATACATATATACATATATATTATATATACATATATACA TATATTATATATACATATATACATATATTATATATACATATATATACATA TATATGTATGTGTGTGTATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	64	0.0156	229	c.410 others(248): Show c.410-16968_410-16967insCACACACACATATACACACACATACA TATATATGTATATATATGTATATATAATATATGTATATATGTATATATAA TATATGTATATATGTATATATAATATATATGTATATATGTATATATAATA TATTATATATGTATATATAATATATTATATATGTATATATAATATATATG TGTATATATATGTGTGTGTGTATATATATATTATGTATATATATATATAT ATA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEU4_chr2_241804193_241822413	241807928	C C	CTCTCCCT others(222): Show CTCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCAG GACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGG CCACCCTCCCTCACCCCCCTCAGCCCAGGGACCTCCGCAGGCCACTCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0001 a0006c0021t0001	a0006c0021t0001g0173 a0006c0021t0001g0173	1	319	0.0031	229	c.-13 others(240): Show c.-1350_-1349insTCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCAGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCCTCCCTCACCCCCCTCAGCCCAGGGACCTC CGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1264		chr2	TogoVar
NFILZ_chr19_8625633_8686151	8656288	A A	AGCGCACC others(222): Show AGCGCACCTCCTCCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCC CTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCTGAAGCCCACCTT CTCCCGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCTGAAGCCCAC CTTCTCCCGCAGCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCC ACCTTCTCCTCGAAGCCCACCTTCTCTCTG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0083 a0003c0003t0083	a0003c0003t0083g0273 a0003c0003t0083g0273	1	366	0.0027	229	c.-16 others(250): Show c.-163-18263_-163-18262insGCGCACCTCCTCCCTGAAGCCCAC CTCTTCCCTGAAGCCCACCTTCTCCCTGCAGCCCACCTTCTCTCTGAAGC CCACCTTCTCCCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGA AGCCCACCTTCTCCCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTC TGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTCGAAGCCCACCTTCT CTCTG	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5			chr19	TogoVar
NFILZ_chr19_8625633_8686151	8656447	A A	AAGCCCAC others(222): Show AAGCCCACCTTCTCTCTGAAGCCCACCTCCTCCCGCAGCGCACCTCCTCC CTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCT TCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACC TCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCC ACCTCTTCCCTGAAGCCCACCTTCTCCTGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0215 a0002c0002t0002g0215	1	366	0.0027	229	c.-16 others(250): Show c.-163-18077_-163-18076insCCTCCCGCAGCGCACCTCCTCCCT GAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCTTC CCTGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTC TTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCAC CTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCC CACCT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993478	T T	TCCCCCCC others(222): Show TCCCCCCCTCTCCCCCCCTCTCCCCCCCTCTCCCCCCCTCTCCCCCCCCT CTCCCCCCCCTCCCCCCTCTCCCCCCCTCCCCCCCTCCCCCCCTCCCCCC TCTCCCCCTCCCTCCCCCTCCCCCCTCTCCCCCTCCCTCCCCCTCCCCTC CCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0008 a0002c0006t0008	a0002c0006t0008g0168 a0002c0006t0008g0168	1	350	0.0029	229	c.55 others(240): Show c.5565_*5566insCCCCCCCTCTCCCCCCCTCTCCCCCCCTCTCCCC CCCTCTCCCCCCCCTCTCCCCCCCCTCCCCCCTCTCCCCCCCTCCCCCCC TCCCCCCCTCCCCCCTCTCCCCCTCCCTCCCCCTCCCCCCTCTCCCCCTC CCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTC	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4850		chr19	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(222): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	356	0.0028	229	c.91+ others(242): Show c.91+432_91+433insGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(222): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGG AGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	356	0.0028	229	c.91+ others(242): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGGCTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(222): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATAAAGTATATATATAATATATATAATATATATTATATAT ATAAAGTATATATATAATATATATAATATATATTATATAAAGTATATATA TAATATATATTATATATAAAGTATATATATAATATATATTATATATATAT AAAATATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	308	0.0033	229	c.730 others(246): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATAATATATATTATATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATAATA TATATTATATATATTATATATATACTTTATATATATAATATATATTATAT A	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCTCCCCA others(222): Show TCTCCCCAGAGTGGATTTCTCTTCTCTTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCCTT CCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0133 a0001c0001t0007g0133	1	326	0.0031	229	c.433 others(246): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAAGAGAAGAGAAATCCACTCTGGGGA G	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	841485	C C	CCCGACCA others(222): Show CCCGACCACAGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCACGGC GCATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGTGCATCTCACACG GGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGT CCTCCCGACCACGGTGCATCTCACACGGGCGAGCAGGTCCACCCTGACCA CGGCGCATCTCACACCCGCGAGCAGGTCCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	242	0.0041	229	c.361 others(248): Show c.361-15408_361-15407insAGGACCTGCTCGCGGGTGTGAGATGC GCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCACCGTGGTCGG GAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCT CGCCCGTGTGAGATGCACCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAG ATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGAGATGCGCTGTGGT CGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OBI1_chr13_78609289_78664155	78659320	G G	GAAAGAAA others(222): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	296	0.0034	229	c.-20 others(238): Show c.-201_-200insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		166		chr13	TogoVar
OMP_chr11_77097840_77108331	77098708	G G	GCGGCTGG others(222): Show GCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGTGGGGGGGGCTGACCCCCCCCATATCCCTCCCAGACGG GGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGG GCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0000 a0001c0002t0000	a0001c0002t0000g0000 a0001c0002t0000g0000	1	440	0.0023	229	c.-41 others(240): Show c.-4132_-4131insCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGGCTGACCCCCCCCAT ATCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCC AGTAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCT GGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCA	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4131		chr11	TogoVar
OMP_chr11_77097840_77108331	77098731	A A	ACCCCCCC others(222): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCT GACCCCCCCCATATCCCTCCCAGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGCGCCCCTCACCTCCTG GACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGCACGGCTGGCCAGGCGGGGGGCTGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG03831.hp1 HG00597.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	2	440	0.0046	229	c.-41 others(240): Show c.-4109_-4108insCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGTGGGGGGGCTGACCCCCCCCATATCCCTCCCAGACGGGGTGGCTG GCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGGCGGGCAGAGGC GCCCCTCACCTCCTGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGAC	OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding		4108		chr11	TogoVar
OR4F17_chr19_102104_118156	107934	T T	TTATTATA others(222): Show TTATTATATAATATAATATATATTATATAATATATATATTATTATATAAT ATAATATATATTATATAATATATTTTATTATATAATATAATATATATTAT ATAATATAATATATTTTATTATATAAATATATATTATATTATATAATATA ATATATATTAATATAAATATATATTATATTATATAATATAATATATATTA TATAATATATTTTATTATATAAATATATAA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18960.hp2 NA19002.hp1 NA18944.hp1 NA18960.hp2 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0015	3	227	0.0132	229	c.-55 others(244): Show c.-55+402_-55+403insATATAATATATATATTATTATATAATATAA TATATATTATATAATATATTTTATTATATAATATAATATATATTATATAA TATAATATATTTTATTATATAAATATATATTATATTATATAATATAATAT ATATTAATATAAATATATATTATATTATATAATATAATATATATTATATA ATATATTTTATTATATAAATATATAATATTATATAATATAATATATATT	OR4F17	ENSG00000176695.8	transcript	ENST00000585993.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
OR4F17_chr19_102104_118156	107934	T T	TTATTATA others(222): Show TTATTATATAATATAATATATATTATATAATATATATATTATTATATAAT ATAATATATATTATATAATATATTTTATTATATAATATAATATATATTAT ATAATATAATATATTTTATTATATAAATATATATTATATTATATATATAA TATATATTATATAATATAAATATATATTATATTATATAATATAATATATA TTATATAATATATTTTATTATATAAATATA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	227	0.0044	229	c.-55 others(244): Show c.-55+402_-55+403insATATAATATATATATTATTATATAATATAA TATATATTATATAATATATTTTATTATATAATATAATATATATTATATAA TATAATATATTTTATTATATAAATATATATTATATTATATATATAATATA TATTATATAATATAAATATATATTATATTATATAATATAATATATATTAT ATAATATATTTTATTATATAAATATATATTATATAATATAATATATATT	OR4F17	ENSG00000176695.8	transcript	ENST00000585993.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCTCCC others(222): Show CCCCTCCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCC TCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCC CCCTCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCC TTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTC CCCTCCCCTCCTCCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	308	0.0033	229	c.226 others(248): Show c.2262+7511_2262+7512insTCCCCCTCCCCCTCCTCCCCCTCCCC TCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCT CCTCCCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCC CCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCT CCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCTCCC others(222): Show CCCCTCCCCTCCCCCTCCTCCCCCCTCCCCTCCCCCTCCTCCCCCTCCCC TCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCC CCCTCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCC TTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTC CCCTCCCCTCCTCCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0142 a0002c0002t0002g0142	1	308	0.0033	229	c.226 others(248): Show c.2262+7511_2262+7512insTCCCCTCCCCCTCCTCCCCCCTCCCC TCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCT CCTCCCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCC CCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCT CCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCTCCC others(222): Show CCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCC CCCTCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCC TTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTC CCCTCCCCTCCTCCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0023 a0001c0001t0024g0023	1	308	0.0033	229	c.226 others(248): Show c.2262+7511_2262+7512insTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTC CTCCCCTTCCTCCCCTCCCCCCCTCCTCCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCC CCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCT CCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCTCCC others(222): Show CCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCC CCTCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCT TCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCC CCTCCCCCTCCTCCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0024 a0003c0003t0024	a0003c0003t0024g0141 a0003c0003t0024g0141	1	308	0.0033	229	c.226 others(248): Show c.2262+7511_2262+7512insTCCCCTCCCCCTCCTCCCCCTCCCCT CCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTC CTCCCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCC CTCCACTCCCCTTCCCCTCCCCTCCCCCTCCTCCCCTCCCCTCCCCTCCT CCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70554965	C C	CCCCCTCC others(222): Show CCCCCTCCTCCCCCTCCCCTCCCCCTCCTCCCCCTCCCCTCCCCCTCCTC CCCTTCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCCTCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCC CTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTC CTCCCCTCCCCTCCCCTCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0280 a0001c0001t0017g0280	1	308	0.0033	229	c.226 others(248): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCCTCCCC TCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCC CCCTCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCACTCCC CTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCT CCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTC CCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168499273	T T	TGGGAGGG others(222): Show TGGGAGGGAGGAAGGGAGGGAGGAAGGGAGGGAGGAAGGGAGGGAGGATG GGAGGGAGGATGGGAGGGAGGAAGGGAGGGAGACATGGAAGAAGGGGGAA GGGAGGCAGAAGGGAGGGAGAGGGGAGGGAGGATGGGAGGGAGGAAGGGA GGGAGGAAGGGAGGGAGGATGGGAGGGAGGAAGGGAGGGAGGATGGGAGG GAGGAAGGGAGGGAGGAAGGGAGGGAGGAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0001 a0007c0023t0001	a0007c0023t0001g0056 a0007c0023t0001g0056	1	156	0.0064	229	c.-83 others(246): Show c.-83+2090_-83+2091insAGGGAGGGAGGAAGGGAGGGAGGAAGGG AGGGAGGATGGGAGGGAGGATGGGAGGGAGGAAGGGAGGGAGACATGGAA GAAGGGGGAAGGGAGGCAGAAGGGAGGGAGAGGGGAGGGAGGATGGGAGG GAGGAAGGGAGGGAGGAAGGGAGGGAGGATGGGAGGGAGGAAGGGAGGGA GGATGGGAGGGAGGAAGGGAGGGAGGAAGGGAGGGAGGAAGGGAGGGAGG A	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PAPPA_chr9_116148791_116407321	116289236	T T	TATATATG others(222): Show TATATATGGCATATATATGCCATATATATAGCATATATATGGCATATATA TGCCATATATATAGCATATATATGGCATATATATGCCATATATATAGCAT ATATATGGCATATATATGCCATATATATAGCATATATATGGCATATATAT GGCATATATATAGCATATATATGGCATATATATGGCATATATATAGCATA TATATGGCATATATATGGCATATATATGCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0016 a0002c0004t0016	a0002c0004t0016g0081 a0002c0004t0016g0081	1	234	0.0043	229	c.295 others(250): Show c.2954-13515_2954-13514insGGCATATATATGCCATATATATAG CATATATATGGCATATATATGCCATATATATAGCATATATATGGCATATA TATGCCATATATATAGCATATATATGGCATATATATGCCATATATATAGC ATATATATGGCATATATATGGCATATATATAGCATATATATGGCATATAT ATGGCATATATATAGCATATATATGGCATATATATGGCATATATATGCCA TATAT	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCBP3_chr21_45638725_45947450	45815200	A A	AGTGAGTG others(222): Show AGTGAGTGGTGAGTGGTGAGTGAGTGGTGAATGATGAGTGAGTGGTGAGT GATGAGTGGTGACTGGTGAGTGAGTGGTGAGTGATGAGTGGTGAGTGAGT GGTGAGTGATGAGTGAGTGGTGAGTGGTGAGTGATGAGTGGTGAGTGAGT GGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTGGTGAGTGATGAGT GAGTGGTGAGTGAGTGATGAGTGGTGAGTG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	292	0.0034	229	c.-12 others(250): Show c.-125-34754_-125-34753insGTGAGTGGTGAGTGAGTGGTGAAT GATGAGTGAGTGGTGAGTGATGAGTGGTGACTGGTGAGTGAGTGGTGAGT GATGAGTGGTGAGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTGGTGAGT GATGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGT GAGTGGTGAGTGATGAGTGAGTGGTGAGTGAGTGATGAGTGGTGAGTGGT GAGTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE6B_chr4_620573_675782	650677	A A	AGGGAGGG others(222): Show AGGGAGGGCTGGCGTCTGGAGGCTGCGGAGGCGAGAAGGCTGGTTGGGGA GGCTGCGTAGATGCCGTTTCAGAGCAGGCCAGGGTCGGAGGTTGGAAGAG CCATTCCGGAGGGCAGGGGGTGTTGACGGGGGCACAGAGGAATGCCCTGA GCCCGAGCCGGCAGCGAAAATCCACCCGCCACACGCTGAAGACGCCTGCA CTTCAGTCAGTTGCTGTGTGCACCAGCAGG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	308	0.0033	229	c.712 others(246): Show c.712-3174_712-2946dupGGGAGGGCTGGCGTCTGGAGGCTGCGGA GGCGAGAAGGCTGGTTGGGGAGGCTGCGTAGATGCCGTTTCAGAGCAGGC CAGGGTCGGAGGTTGGAAGAGCCATTCCGGAGGGCAGGGGGTGTTGACGG GGGCACAGAGGAATGCCCTGAGCCCGAGCCGGCAGCGAAAATCCACCCGC CACACGCTGAAGACGCCTGCACTTCAGTCAGTTGCTGTGTGCACCAGCAG G	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDIA6_chr2_10778391_10817785	10806622	T T	TAAAGAGA others(222): Show TAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAGAAAAGAAAAGAA AAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0204 a0001c0003t0001g0204	1	342	0.0029	229	c.20- others(244): Show c.20-3983_20-3982insCTTTCTTTCTTTCTTTCTTTCTTTCTTTTT TTCTTTTCTTTTCTTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(222): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAG AAAAAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	342	0.0029	229	c.20- others(244): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTCTTTTTTT CTTTTCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(222): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA20129.hp2 HG04228.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0145 a0001c0001t0008g0106 a0001c0001t0001g0145 a0001c0001t0008g0106	2	237	0.0084	229	c.537 others(246): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGC G	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(222): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA19088.hp1 HG02809.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0095 a0001c0001t0003g0204 a0001c0001t0001g0095 a0001c0001t0003g0204	2	237	0.0084	229	c.537 others(246): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGC G	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar

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