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
LHPP_chr10_124456823_124619141	124507234	A A	AGGGTAGA others(359): Show AGGGTAGACAGGATTTCAGGTGGGGGGGTAGGCAGGATTTCAGGTCGGGG GGGTAGACAGGATTTCAGTTGGGGGGGTAGACAGGATTTCAGTTGGGGGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGT AGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAG GGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	260	0.0039	366	c.624 others(383): Show c.624+9112_624+9113insACAGGATTTCAGGTGGGGGGGTAGGCAG GATTTCAGGTCGGGGGGGTAGACAGGATTTCAGTTGGGGGGGTAGACAGG ATTTCAGTTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGA TTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGTAT TTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTT CAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTC AGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCA GGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507611	C C	CAGGATTT others(359): Show CAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGG AGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGATAGGGA GTATTTCAGGTGGGGGGGTAGGCAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGG ATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTGGGGAGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTT CAGGTGGGGGGGTAGGG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	260	0.0039	366	c.624 others(383): Show c.624+9496_624+9497insGGGGGATAGGGAGTATTTCAGGTGGGGG GGGTAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGG GATAGGGAGTATTTCAGGTGGGGGGGTAGGCAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGG TAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGGGGAGTAGGCAGGATTTCAGGTCGGGGGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	894214	C C	CCTGGCTG others(359): Show CCTGGCTGTCCGCCCACCCATCCCCTGTCCACCGGACCGTCCGCCCCACC CGTCCCCATGTCCATCAGACCGTCCGTCCACCTGTCCCCCTGTCCCCTGT CCACCGGACCATTCGCCCACCCATCCCCCTGTCCACCTGGCCATCCGCCC ACCTGTCTCCTGTCCACCGGACCGTCCACCCACCCGTCCCCCTGTCCACC GGACCGTCCACCCACCCGTCCCCCTGTCCACTGGACTGTCCGCCCACCTG TCCCCCTGTCCCCTGTCCACCGGACCGTCTGCCCACCCCGTCCCCCTGTC CACCTGGCCATCCGCCCACCCATCCCCTGTCCACCGGACCGTCCACACCA CCCGTCCCCCTGTCCAG	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0001 a0001c0067t0001	a0001c0067t0001g0056 a0001c0067t0001g0056	1	294	0.0034	366	c.664 others(383): Show c.664-1143_664-1142insCTGGACAGGGGGACGGGTGGTGTGGACG GTCCGGTGGACAGGGGATGGGTGGGCGGATGGCCAGGTGGACAGGGGGAC GGGGTGGGCAGACGGTCCGGTGGACAGGGGACAGGGGGACAGGTGGGCGG ACAGTCCAGTGGACAGGGGGACGGGTGGGTGGACGGTCCGGTGGACAGGG GGACGGGTGGGTGGACGGTCCGGTGGACAGGAGACAGGTGGGCGGATGGC CAGGTGGACAGGGGGATGGGTGGGCGAATGGTCCGGTGGACAGGGGACAG GGGGACAGGTGGACGGACGGTCTGATGGACATGGGGACGGGTGGGGCGGA CGGTCCGGTGGACAGGGGATGGGTGGGCGGACAGCCAG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACGTAC others(359): Show CCACGTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCG GGCCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCG GGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCCGGG CCACTTACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCCG GGCCACGTACTTACTACATACCCGGGCCACTTACTTACCTACTACATACC CGGGCCACTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0060 a0001c0004t0060	a0001c0004t0060g0251 a0001c0004t0060g0251	1	296	0.0034	366	c.368 others(383): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTA GGTAAGTAAGTGGCCCGGGTATGTAGTAAGTACGTGGCCCGGGTATGTAG TAAGTACGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGT AGTAAGTACGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGT AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAG TAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTACGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(359): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0237 a0004c0007t0002g0237	1	296	0.0034	366	c.368 others(383): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCGCTTAC others(359): Show CCGCTTACTTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0013	a0001c0006t0013g0205 a0001c0006t0013g0205	1	296	0.0034	366	c.368 others(383): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAAGTAAGCG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC23_chr12_6899822_6919229	6909135	T T	TATATAAT others(359): Show TATATAATATATAATATATAATATATATTTATTAATAATATATAATATAT ATATTTATTTATATATATATTATTATATGTATATAAATATATATATTTAT TAATATATATAAATATATATATTTATTAATAATATATATAATATATATAA TATATAATATATAATATATAATATATATTTATATATAATATATAATATAT AATATATAATATATTATATATAATATATTATATATAATTATATATAATAT ATAATTATATATTATATATAATTATATAATATATAATATATATATTATTA TATATATAATAATATATATATAATATATAATTATACATAATATATAATAT ATAATTATAATATATAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0146 a0002c0002t0002g0146	1	316	0.0032	366	c.622 others(381): Show c.622-755_622-754insATATAATATATAATATATAATATATATTTA TTAATAATATATAATATATATATTTATTTATATATATATTATTATATGTA TATAAATATATATATTTATTAATATATATAAATATATATATTTATTAATA ATATATATAATATATATAATATATAATATATAATATATAATATATATTTA TATATAATATATAATATATAATATATAATATATTATATATAATATATTAT ATATAATTATATATAATATATAATTATATATTATATATAATTATATAATA TATAATATATATATTATTATATATATAATAATATATATATAATATATAAT TATACATAATATATAATATATAATTATAATATATAA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LUC7L_chr16_183990_234449	186629	G G	GAGGAACA others(359): Show GAGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGGACAGCGACACGGGGGGGACAGCGACACGGGGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGTCACGGG AGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	350	0.0029	366	c.25 others(377): Show c.2568_*2569insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCC GTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCGTGACGCTGTTCCC CCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTCCCCCCCGTGTCGCTGTCCCCCCCGTGTCGCTGTTCCCCCCGTG TCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCT	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2360		chr16	TogoVar
MAEA_chr4_1284891_1345137	1317145	C C	CCACCCGG others(359): Show CCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCA CACTCCAGACTCACCCGCAGGCCCACCCGGTCCCACACTCCAGACTCACC CGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCC CAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACT CCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACCCG CAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCA GCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCC AGACTCACCCGCAGGCT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	388	0.0026	366	c.456 others(383): Show c.456+1550_456+1551insGGTCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCGGTCCC ACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTC ACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCA CCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCAC ACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCAC CCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACC CCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164310576	A A	ACGAAAAT others(359): Show ACGAAAATGTGTGTTTTTTTTTTTTTCTTTTTTAATTATTATTATTATTA TACTTTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATAT GTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCATCTAGC ATTAGGTATATCTGCCAATGCTATCCCTCCCCCCTCCCCCCACCCCACCA CAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTG TTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCT TGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTAC AAAGGACATGAACTCAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01496.hp2 HG02080.hp2 others(5): Show HG01109.hp2 HG01496.hp2 HG02080.hp2 HG03139.hp2 HG03516.hp2 NA18969.hp2 NA18984.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0002t0015 a0001c0008t0012 a0002c0004t0003	a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0004g0100 others(5): Show a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0004g0100 a0001c0001t0006g0053 a0001c0001t0007g0051 a0001c0002t0015g0050 a0001c0008t0012g0026 a0002c0004t0003g0081	8	102	0.0784	366	c.-32 others(387): Show c.-323+73293_-323+73294insATGAGTTCATGTCCTTTGTAGGGA CATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAA AAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAG ATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGG GTGGGGGGAGGGGGGAGGGATAGCATTGGCAGATATACCTAATGCTAGAT GACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAAT AATAATAATTAAAAAAGAAAAAAAAAAAAACACACATTTTCG	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MBNL3_chrX_132364320_132494038	132396693	T T	TATATATA others(359): Show TATATATATTCATATATAGATTCATATATATATATTCATATATAGATTCA TATATAGATTCATATATATATTCATATATAGATTCATATATATATTCATA TATATTCATATATATATTCATATATATTCATATATATATTCATATATATT CATATATATATTCATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATATTCATATATATT CATATATATATTCATATATATTCATATATATATTCATATATATATTCATA TATATATTCATATATATTCATATATATATTCATATATATATTCATATATA TATTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0189 a0001c0001t0035g0189	1	191	0.0052	366	c.343 others(383): Show c.343-4360_343-4359insGAATATATATATGAATATATATATGAAT ATATATATGAATATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATGAATATATATATGAATATATATGA ATATATATATGAATATATATATGAATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATGAATATATATATGAATATATATGA ATATATATATGAATATATATGAATATATATATGAATATATATGAATATAT ATATGAATCTATATATGAATATATATATGAATCTATATATGAATCTATAT ATGAATATATATATATGAATCTATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396705	T T	TATATATA others(359): Show TATATATATTCATATATATATATTCATATATAGATTCATATATATATTCA TATATAGATTCATATATATATTCATATATAGATTCATATATATTCATATA TAGATTCATATATATATTCATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATATTCATATATATATTCATATATATT CATATATATTCATATATATTCATATATATATTCATATATATTCATATATA TATTCATATATATATTC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0130 a0001c0001t0032g0130	1	191	0.0052	366	c.343 others(383): Show c.343-4372_343-4371insGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATGAATATATATGAATATATATGA ATATATATATGAATATATATATGAATATATATATGAATATATATGAATAT ATATATGAATATATATATGAATATATATATGAATATATATGAATATATAT ATGAATATATATATGAATATATATATGAATATATATATGAATATATATAT GAATATATATGAATATATATGAATATATATATGAATCTATATATGAATAT ATATGAATCTATATATGAATATATATATGAATCTATATATGAATATATAT ATGAATCTATATATGAATATATATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MCC_chr5_113017106_113493453	113333802	T T	TATATATG others(359): Show TATATATGTACATATATGTATATATGTACATATATACATATATGTACATA TATGTATATATGTACATATATACATATATGTACATATATGTACATATGTA CATATATGTACATATATACATATATGTACATATATGTACATATGTACATA TATGTACATATATGTATATATGTACATATATACATATATGTACATATGTA CATATACATATATATGTACATATGTACATATACGTATATATGTACATATG TACATATACGTATATATGTACATATGTACATATATGTATATATGTACATA TGTACATATATGTATATATGTACATATATGTATATATGTACATATGTACA TATATGTATATATGTAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0054 a0001c0011t0004g0054	1	160	0.0063	366	c.627 others(383): Show c.627+6716_627+6717insGTACATATATACATATATGTACATATGT ACATATATACATATATGTACATATATACATATATGTACATATGTACATAT ATACATATATGTACATATGTACATATATACGTATATGTACATATGTACAT ATATACGTATATGTACATATGTACATATATATGTATATGTACATATGTAC ATATATGTATATATGTACATATATACATATATGTACATATATGTACATAT GTACATATATGTACATATATGTATATATGTACATATATGTACATATGTAC ATATATGTACATATATGTATATATGTACATATATACATATATGTACATAT ATGTATATATGTACATATATACATATATGTACATATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MPPED1_chr22_43407014_43512848	43432644	G G	GAGAGAGA others(359): Show GAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGG AGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAA GGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAG AGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGA GAGAGATAAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01516.hp1 HG00673.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0135 a0001c0001t0002g0063 a0001c0001t0001g0135 a0001c0001t0002g0063	2	250	0.0080	366	c.225 others(383): Show c.225-2390_225-2389insAGAGAGAGGGAAAGAGAGAGAGAAGGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAG GAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAG AGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAG GAGAGAGAGATAAAGGGAGGAGAGAGATAAAGGGAGGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
MRPL28_chr16_361969_375538	370378	C C	CGGCACTC others(359): Show CGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCC CCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGG CCCCCGGCACTCACCCCCTAACCCCGGCCCCCGGCTCTCACCTCCTACCC CGGCCCCCGGCTCTCACCTCCTACCCCTGCCCCCGGCTCTCACCCCCTAC CCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01099.hp2 HG01243.hp2 others(4): Show HG00099.hp2 HG01099.hp2 HG01243.hp2 HG01346.hp2 HG02602.hp1 HG03017.hp2 HG03831.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0006 a0004c0005t0004g0006	7	394	0.0178	366	c.-8+ others(379): Show c.-8+120_-8+121insCCGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCG GGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCAGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGA GCCGGGGGCCGGGGTTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGG TGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCC	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MSH3_chr5_80649652_80881815	80693279	A A	ATATGTTT others(359): Show ATATGTTTATATAAATATGCACATGTATATGTTTAAATATGCACATGTAT ATGTTTAGATAAATATACATGCACATGTATGTGTTTAGATAAATATACAT GCACATGTATGTGTTTAGATAAATATACATGCACATGTATATGTTTATAT AGATAAATATACATGCACATGTATATGTTTATATAGATAAATATACATGC ACATGTATATGTTTATATAGATAAATATACATGCACATGTATGTTTATAT AGATAAATATACATGCACATGTATGTTTATATAGATAAATATACATGCAC ATGTATGTTTATATAGATAAATATACATGCACATGTATGTTTATATAGAT AAATATACATGCACATG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	362	0.0028	366	c.134 others(387): Show c.1340+14198_1340+14199insAATATGCACATGTATATGTTTAAA TATGCACATGTATATGTTTAGATAAATATACATGCACATGTATGTGTTTA GATAAATATACATGCACATGTATGTGTTTAGATAAATATACATGCACATG TATATGTTTATATAGATAAATATACATGCACATGTATATGTTTATATAGA TAAATATACATGCACATGTATATGTTTATATAGATAAATATACATGCACA TGTATGTTTATATAGATAAATATACATGCACATGTATGTTTATATAGATA AATATACATGCACATGTATGTTTATATAGATAAATATACATGCACATGTA TGTTTATATAGATAAATATACATGCACATGTATGTTTATATA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH4_chr1_75791882_75918242	75906518	T T	TTGTATAT others(359): Show TTGTATATATTATATATAATATATACAATATTGTATATATTATATATAAT ATATACAATATTGTATATATTATATATAATATATACAATATTGTATATAT TATATATAATATATACAATATTGTATATAATATATATAATATATACAATA TTTATATATATTATATATATTATATATAATATATACATATTATATATTAT ATATTATATATATACATATTATATATTATATATATAATATATATACATAT TATATTATATATAATATATATACATATTATATTATATATAATATATATAC ATATTATATTATATATAATATATACATATTATATATATAATATATAATAT ATTACATATTATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0160 a0003c0005t0001g0160	1	332	0.0030	366	c.262 others(385): Show c.2620-6178_2620-6177insTGTATATATTATATATAATATATACA ATATTGTATATATTATATATAATATATACAATATTGTATATATTATATAT AATATATACAATATTGTATATATTATATATAATATATACAATATTGTATA TAATATATATAATATATACAATATTTATATATATTATATATATTATATAT AATATATACATATTATATATTATATATTATATATATACATATTATATATT ATATATATAATATATATACATATTATATTATATATAATATATATACATAT TATATTATATATAATATATATACATATTATATTATATATAATATATACAT ATTATATATATAATATATAATATATTACATATTATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MTTP_chr4_99569824_99628997	99588843	A A	ACATATAT others(359): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATTCATAT ATATGTTCATATATATTCATATATATGTTCATATATATATTCATATATAT GTTCATATATATATTCATATATATGTTCATATATATATTCATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0005 a0006c0006t0005	a0006c0006t0005g0078 a0006c0006t0005g0078	1	364	0.0028	366	c.394 others(381): Show c.394-791_394-790insGTTCATATATATATTCATATATATATGTTC ATATATATTCATATATATGTTCATATATATATTCATATATATGTTCATAT ATATTCATATATATGTTCATATATATTCATATATATGTTCATATATATAT TCATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MVP_chr16_29815462_29853021	29843566	G G	GAGGGAGT others(359): Show GAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGG AGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGA GTGAAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGA GGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGGAGGGAGGGAGGGAGGGAG TGAAGGGAGTGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAG GAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGG AAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGG AGGGAGGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	230	0.0044	366	c.163 others(383): Show c.1635-921_1635-920insTGAAGGGAGTGAGGAAGGGAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAG GGAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGG GAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGGAGG GAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGGAGGGAGGGAGGG AGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGA AGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAA GGGAGGAAGGGAGGGAGGGAGGGGAGGGAGGAAGGGAG	MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(359): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTTTATAAAATATATATTATATTATAT AATATATATTTTATAAAATATATATTATATTATATATAATATATATTATA TAAAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	368	0.0027	366	c.51 others(377): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATATAATATAATATATATTTTATATAATAT ATATTATATATAATATAATATATATTTTATATAATATATATTATATATAA TATAATATATATTTTATATAATATATATTATATATAATATAATATATATT TTATATAATATATATTATATATAATATAATATATATTTTATATAATATAT ATTATATATAATATAATATATATTTTATATAATATATATTATATATAATA TAATATATATTATATATAATATATATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(359): Show ATATATAATATATATTTTATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATATTATATATAATATAT ATTATATAAAATATATATTATATTATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTTTATAAAATATATATTATATTATAT AATATATATTTTATAAAATATATATTATATTATATATAATATATATTATA TAAAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	368	0.0027	366	c.51 others(377): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATATAATATAATATATATTTTATATAATAT ATATTATATAATATAATATATATTTTATATAATATATATTATATATAATA TATAATATATATTTTATATAATATATATTATATATAATATAATATATATT TTATATAATATATATTATATATAATATAATATATATTTTATATAATATAT ATTATATATAATATAATATATATTTTATATAATATATATTATATATAATA TAATATATATTATATAAAATATATATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYL2_chr12_110905845_110925579	110905918	T T	TATATAAT others(359): Show TATATAATATATATTATATAAAATATATATTATATTATATATAATATATA TTATATAAAATATATATTATATTATATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTATATAAAATATATATTATATTATA TATAATATATATTATATAAAATATATATTATATTATATATAATATATATT ATATAAAATATATATTATATATTATATAATATATATTATATAAAATATAT ATTATATTATATATAATATATATTTTATAAAATATATATTATATTATATA ATATATATTTTATAAAATATATATTATATTATATATAATATATATTATAT AAAATATATATTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	368	0.0027	366	c.51 others(377): Show c.5158_*5159insTATATAATATATATTTTATATAATATATATTATA TATAATATAATATATATTTTATAAAATATATATTATATAATATAATATAT ATTTTATAAAATATATATTATATATAATATAATATATATTTTATATAATA TATATTATATAATATATAATATATATTTTATATAATATATATTATATATA ATATAATATATATTTTATATAATATATATTATATATAATATAATATATAT TTTATATAATATATATTATATATAATATAATATATATTTTATATAATATA TATTATATATAATATAATATATATTTTATATAATATATATTATATATAAT ATAATATATATTTTATATAATATATATTATAT	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4926		chr12	TogoVar
MYO18B_chr22_25737188_26036045	25792353	T T	TAAGAAGT others(359): Show TAAGAAGTGGATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0003 a0003	a0003c0142 a0003c0142	a0003c0142t0001 a0003c0142t0001	a0003c0142t0001g0025 a0003c0142t0001g0025	1	228	0.0044	366	c.237 others(385): Show c.2377-5586_2377-5585insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGTGGATTGG	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	11/43		INFO_REALIGN_3_PRIME	chr22	TogoVar
NAP1L5_chr4_88690913_88702829	88699285	T T	TTCCCCAC others(359): Show TTCCCCACCCACCCACCCAGCCCCACCCCACTCATCGACCCAGCTCCACC CTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCACCCACCCACCC CTACCCGCTTCTTCTCCACCCACCCACCCAGCCCCACCCCACTCATCGAC CCAGCTCCACCCTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCA CCCACCCACCCCTACCCGCTTCTTCCCCACCCACCCACCCAGCCCCACCC CACTCATCGACCCAGCTCCACCCTCTTCTTCCCCACCGACCCACCCCTAC CCTCTTCCCCACCCACCCACCCCTACCCGCTTCTTCTCCACCCACCCACC CAGCCCCACCCTATTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(49): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02258.hp1 HG02559.hp2 HG02886.hp2 HG03017.hp1 HG03486.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 NA18612.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18981.hp1 NA18982.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18995.hp2 NA18998.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19057.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19074.hp1 NA19081.hp2 NA19085.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0002 a0001c0001t0011 a0005c0008t0002 a0001c0001t0002 a0001c0001t0011 a0005c0008t0002	a0001c0001t0002g0000 a0001c0001t0011g0000 a0005c0008t0002g0000 a0001c0001t0002g0000 a0001c0001t0011g0000 a0005c0008t0002g0000	52	414	0.1256	366	c.-15 others(377): Show c.-1532_-1531insGGAATAGGGTGGGGCTGGGTGGGTGGGTGGAGAA GAAGCGGGTAGGGGTGGGTGGGTGGGGAAGAGGGTAGGGGTGGGTCGGTG GGGAAGAAGAGGGTGGAGCTGGGTCGATGAGTGGGGTGGGGCTGGGTGGG TGGGTGGGGAAGAAGCGGGTAGGGGTGGGTGGGTGGGGAAGAGGGTAGGG GTGGGTCGGTGGGGAAGAAGAGGGTGGAGCTGGGTCGATGAGTGGGGTGG GGCTGGGTGGGTGGGTGGAGAAGAAGCGGGTAGGGGTGGGTGGGTGGGGA AGAGGGTAGGGGTGGGTCGGTGGGGAAGAAGAGGGTGGAGCTGGGTCGAT GAGTGGGGTGGGGCTGGGTGGGTGGGTGGGGA	NAP1L5	ENSG00000177432.8	transcript	ENST00000323061.7	protein_coding		1457		chr4	TogoVar
NAP1L5_chr4_88690913_88702829	88699285	T T	TTCCCCAC others(359): Show TTCCCCACCCACCCACCCAGCCCCACCCCACTCATCGACCCAGCTCCACC CTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCACCCACCCACCC CTACCCGCTTCTTCTCCACCCACCCACCCAGCCCCACCCCACTCATCGAC CCAGCTCCACCCTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCA CCCACCCACCCCTACCCGCTTCTTCCCCACCCACCCACCCAGCCCTACCC CACTCATCGACCCAGCTCCACCCTCTTCTTCCCCACCGACCCACCCCTAC CCTCTTCCCCACCCACCCACCCCTACCCGCTTCTTCTCCACCCACCCACC CAGCCCCACCCTATTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG03239.hp1 HG03704.hp2 others(1): Show HG02698.hp1 HG03239.hp1 HG03704.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	4	414	0.0097	366	c.-15 others(377): Show c.-1532_-1531insGGAATAGGGTGGGGCTGGGTGGGTGGGTGGAGAA GAAGCGGGTAGGGGTGGGTGGGTGGGGAAGAGGGTAGGGGTGGGTCGGTG GGGAAGAAGAGGGTGGAGCTGGGTCGATGAGTGGGGTAGGGCTGGGTGGG TGGGTGGGGAAGAAGCGGGTAGGGGTGGGTGGGTGGGGAAGAGGGTAGGG GTGGGTCGGTGGGGAAGAAGAGGGTGGAGCTGGGTCGATGAGTGGGGTGG GGCTGGGTGGGTGGGTGGAGAAGAAGCGGGTAGGGGTGGGTGGGTGGGGA AGAGGGTAGGGGTGGGTCGGTGGGGAAGAAGAGGGTGGAGCTGGGTCGAT GAGTGGGGTGGGGCTGGGTGGGTGGGTGGGGA	NAP1L5	ENSG00000177432.8	transcript	ENST00000323061.7	protein_coding		1457		chr4	TogoVar
NDUFV3_chr21_42888309_42918299	42894364	A A	ATAATATA others(359): Show ATAATATATATTATATATAAATATATAATATATATAATATATATTATATA TAAATATATAATATATATAATATATATTATATATAAATATATAATATATA TAATATATATTATATATAAATATATAATATATATAATATATATTATATAT AAATATATAATATATATTATATATAAATATATAATATATATTATATATAA ATATATAATATATATAATATATATTATATATAAATATATATTATATATTA TATATTTATATATTATAATATATAAATATATAATATATAATATATATTAT ATATAAATATATTATAATATATAATATATATTATATATAAATATATAATA TATAATGTATATTATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18906.hp1 NA19043.hp1 HG06807.hp2 NA18906.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0038 a0002c0002t0014 a0002c0002t0038	a0002c0002t0014g0058 a0002c0002t0014g0059 a0002c0002t0038g0060 a0002c0002t0014g0058 a0002c0002t0014g0059 a0002c0002t0038g0060	3	348	0.0086	366	c.48+ others(379): Show c.48+985_48+986insATATATATTATATATAAATATATAATATATAT AATATATATTATATATAAATATATAATATATATAATATATATTATATATA AATATATAATATATATAATATATATTATATATAAATATATAATATATATA ATATATATTATATATAAATATATAATATATATTATATATAAATATATAAT ATATATTATATATAAATATATAATATATATAATATATATTATATATAAAT ATATATTATATATTATATATTTATATATTATAATATATAAATATATAATA TATAATATATATTATATATAAATATATTATAATATATAATATATATTATA TATAAATATATAATATATAATGTATATTATATTA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NEU4_chr2_241804193_241822413	241812487	C C	CGAGGACA others(359): Show CGAGGACACGGAGGCTCTGTGGAACCCAGGGAACTGGTCACACTGAGGAC ATGGAGGCTCTGTGGAACCCAGGGCCTGGCCACACTGAGCACGGCTGGTC CCCCAAGACAGAGGGACCTCCTGAGGACACAGAGTCTCTGTGGAACCCAG GGCCTGGCCACACTAACTGGGGCTGGCCTCCGAGACAGGGGAGGTCCTGA GGACACGGAGGCTCTGTGGAACCCAGGGCCTGGCCACATGGAGGACACGG AGGCTCTGTGGAACCCAGGGCCTGGCCACATGGAGGACACGGAGGCTCTG TGGAACCCAGGGCCTGGCCACACTGAGGACACGGAGGCTCTGTGGAACCC AGGGAACTGGTCACACT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	319	0.0031	366	c.-3- others(381): Show c.-3-1945_-3-1944insTGGAGGCTCTGTGGAACCCAGGGCCTGGCC ACACTGAGCACGGCTGGTCCCCCAAGACAGAGGGACCTCCTGAGGACACA GAGTCTCTGTGGAACCCAGGGCCTGGCCACACTAACTGGGGCTGGCCTCC GAGACAGGGGAGGTCCTGAGGACACGGAGGCTCTGTGGAACCCAGGGCCT GGCCACATGGAGGACACGGAGGCTCTGTGGAACCCAGGGCCTGGCCACAT GGAGGACACGGAGGCTCTGTGGAACCCAGGGCCTGGCCACACTGAGGACA CGGAGGCTCTGTGGAACCCAGGGAACTGGTCACACTGAGGACACGGAGGC TCTGTGGAACCCAGGGAACTGGTCACACTGAGGACA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
NFILZ_chr19_8625633_8686151	8656482	C C	CAGCGCAC others(359): Show CAGCGCACCTCCTCCCTGAAGCCCCCTTCTTCCTGAAGCCCACCTCTTCC CTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACCTTC TCTCTGAAGCCCACCTCTTCCCTGAAGCCCACCTTCTCCTGCAGCCCACC TTCTCTCTGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCTCTGAAACCC ACCTCTTTCCGCAGCCCACCTTCTCCTGCAGCCCACCTTCTCCTGAAGCC CACCTTCTCCTGAAGCCCACCTTCTCCCTGAAGCCCACCTTCTCCCGCAG CCCACCTTCTCCTGCAGCCCACCTTCTCCTGCAGCCCACCTTCTCCTGAA GCCCACCTTCTCCCTGA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	366	0.0027	366	c.-16 others(387): Show c.-163-18066_-163-18065insGCACCTCCTCCCTGAAGCCCCCTT CTTCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTCTTCCCTGAAGCCCA CCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTCTTCCCTGAAGC CCACCTTCTCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCGCA GCCCACCTTCTCTCTGAAACCCACCTCTTTCCGCAGCCCACCTTCTCCTG CAGCCCACCTTCTCCTGAAGCCCACCTTCTCCTGAAGCCCACCTTCTCCC TGAAGCCCACCTTCTCCCGCAGCCCACCTTCTCCTGCAGCCCACCTTCTC CTGCAGCCCACCTTCTCCTGAAGCCCACCTTCTCCCTGAAGC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NPBWR2_chr20_64098802_64112565	64105577	G G	GCGTGATG others(359): Show GCGTGATGATGGGGGTGATGGTGGGGGTGGTGGTGGGGGTGGGGGTGATG GTGGGGGTGGGGGTGGGGGTGATGGGGGTGGGCGTGATGGTGGATGTGAT GGGGGTGGGCATGATGATGGGCGTGATGATGGGGGTGGTGGTGGGGGTGA TGGTGGGGGTGGTGGTGGGCGTGATGATGGGGGTGATGGTGGGGGTGGTG GTGGGGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGATGGGGGTGGG CGTGATGGTGGATGTGATGGGGGTGGGCATGATGATGGGCGTGATGATGG GGGTGGTGGTGGGGGTGATGGTGGGGGTGGTGGTGGGCGTGATGATGGGG GTGATGGTGGGGGTGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0111 a0001c0002t0111	a0001c0002t0111g0082 a0001c0002t0111g0082	1	355	0.0028	366	c.25 others(375): Show c.252_*253insACCACCCCCACCATCACCCCCATCATCACGCCCACC ACCACCCCCACCATCACCCCCACCACCACCCCCATCATCACGCCCATCAT CATGCCCACCCCCATCACATCCACCATCACGCCCACCCCCATCACCCCCA CCCCCACCCCCACCATCACCCCCACCCCCACCACCACCCCCACCATCACC CCCATCATCACGCCCACCACCACCCCCACCATCACCCCCACCACCACCCC CATCATCACGCCCATCATCATGCCCACCCCCATCACATCCACCATCACGC CCACCCCCATCACCCCCACCCCCACCCCCACCATCACCCCCACCCCCACC ACCACCCCCACCATCACCCCCATCATCACG	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	252		chr20	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(359): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATAAAGTATATATATAATATATATTATATATATAAAGTAT ATATATAATATATATATATATTATATATATAAAGTATATATATAATATAT ATAATATATATTATATATATAAAGTATATATATAATATATATAATATATA TTATATATATAAAGTATATATATAATATATAATATATATTATATATAAAG TATATATATAATATATATTATATATAAAGTATATATATAATATATATTAT ATATAAAGTATATATATAATATATATTATATATATATAAAATATATAATA TATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0276 a0002c0005t0002g0276	1	308	0.0033	366	c.730 others(383): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATATACTTTATATATA ATATATATTATATATTATATATATACTTTATATATATAATATATATTATA TATATTATATATATACTTTATATATATAATATATATTATATATATTATAT ATATACTTTATATATATAATATATATATATATTATATATATACTTTATAT ATATAATATATATTATATATATACTTTATATATAATATATATTATATATA TTATATATATACTTTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(359): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC CCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT TCCCCTCCCCTCCCCTTCCCCTCCCCTCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTC CCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0064 a0001c0001t0026g0064	1	326	0.0031	366	c.433 others(383): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
OR1F1_chr16_3183204_3211556	3197747	G G	GGGAGAAG others(359): Show GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0193 a0001c0001t0003g0193	1	328	0.0031	366	c.-13 others(383): Show c.-13+6415_-13+6416insAGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAAGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR3A2_chr17_3271177_3391308	3327954	C C	CTTGTAGT others(359): Show CTTGTAGTATAGTATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGCATAGTATACTATACTACAGTATAGCATAGTATACTAT ACTACAGTATAGTATAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02015.hp2 HG02027.hp2 others(5): Show HG00438.hp1 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02135.hp1 HG02155.hp2 HG02572.hp2 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0007 a0002c0002t0005 a0002c0002t0007	a0002c0002t0005g0220 a0002c0002t0005g0221 a0002c0002t0005g0222 others(5): Show a0002c0002t0005g0220 a0002c0002t0005g0221 a0002c0002t0005g0222 a0002c0002t0005g0224 a0002c0002t0005g0226 a0002c0002t0005g0228 a0002c0002t0005g0230 a0002c0002t0007g0290	8	318	0.0252	366	c.-27 others(385): Show c.-279+8074_-279+8075insCTATACTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATGCTATACTGTAGTATAGTATAC TATGCTATACTGTAGTATAGTATACTATACTATACTACAA	OR3A2	ENSG00000221882.5	transcript	ENST00000573901.3	protein_coding	2/4			chr17	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(359): Show ACTGAATGTACATCATTATTATTATTATTATTATTATTATTATTATTATT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	438	0.0023	366	c.-29 others(381): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAATA ATAATAATAATAATAATAATAATGATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(359): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTATT TTTTTTTATTTTTTATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	438	0.0023	366	c.-29 others(381): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAATAAAAAATAAAAAAAAATAATAATAATA ATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(359): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTATT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02293.hp1 NA18950.hp1 others(2): Show HG01192.hp1 HG02293.hp1 NA18950.hp1 NA19002.hp2 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0065 a0001c0001t0001g0137 a0001c0001t0001g0191 others(1): Show a0001c0001t0001g0065 a0001c0001t0001g0137 a0001c0001t0001g0191 a0002c0002t0003g0102	5	438	0.0114	366	c.-29 others(381): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAATA ATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(359): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCACCCGCCTCGGCCACCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02735.hp2 HG02602.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	2	438	0.0046	366	c.-29 others(381): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGTGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATA ATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(359): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTATTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02015.hp2 HG02165.hp2 HG00408.hp2 HG02015.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0019 a0002c0002t0003g0019	3	438	0.0069	366	c.-29 others(381): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATA ATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(359): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02615.hp2 NA18951.hp2 others(4): Show HG00544.hp2 HG02615.hp2 NA18951.hp2 NA19005.hp2 NA19009.hp1 NA19043.hp2 NA19072.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0136 a0001c0001t0001g0179 a0001c0001t0001g0215 others(1): Show a0001c0001t0001g0136 a0001c0001t0001g0179 a0001c0001t0001g0215 a0002c0002t0003g0015	7	438	0.0160	366	c.-29 others(381): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATA ATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(359): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19006.hp1 NA19078.hp1 NA18982.hp2 NA19006.hp1 NA19078.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0003	a0001c0001t0002g0232 a0002c0002t0003g0033 a0001c0001t0002g0232 a0002c0002t0003g0033	3	438	0.0069	366	c.-29 others(381): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATA ATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(359): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18955.hp1 NA18960.hp1 others(2): Show NA18941.hp1 NA18955.hp1 NA18960.hp1 NA18987.hp1 NA18988.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0003	a0001c0001t0002g0018 a0002c0002t0003g0088 a0001c0001t0002g0018 a0002c0002t0003g0088	5	438	0.0114	366	c.-29 others(381): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ATAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(359): Show ACTGAATGTACATTATTATTATTATTATTATTATTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18992.hp1 NA19006.hp2 NA18945.hp2 NA18992.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	3	438	0.0069	366	c.-29 others(381): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(359): Show ACTGAATGTACATTATTATTATTATTATTATTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA19054.hp2 NA19065.hp1 others(1): Show NA18948.hp1 NA19054.hp2 NA19065.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0049 a0001c0001t0002g0069 a0001c0001t0001g0049 a0001c0001t0002g0069	4	438	0.0091	366	c.-29 others(381): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(359): Show ACTGAATGTACATTATTATTATTATTATTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	438	0.0023	366	c.-29 others(381): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OSGIN1_chr16_83948240_83971332	83950478	T T	TACATGCA others(359): Show TACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACA CGTACACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCA CACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATACT GGCACACACGTACACACACATGCACACATGAGCACATGTGCACACATGCA CATACATACTGGCACACGTACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACA TGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCA CACATGCACATACTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	350	0.0029	366	c.-29 others(377): Show c.-2925_-2924insACATGCACACATGAGCACATGTGCACACATGCAC ATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACACGTACACACACATGCACACATGAGCAC ATGTGCACACATGCACATACATACTGGCACACGTACATGCACACATGAGC ACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACATGA GCACATGTGCACACATGCACATACATACTGGCACACACGTACATGCACAC ATGAGCACATGTGCACACATGCACATACTGGC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2761		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950478	T T	TACATGCA others(359): Show TACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACA CGTACACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCA CACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATACT GGCACACACGTACACACACATGCACACATGAGCACATGTGCACACATGCA CATACTGGCACACGTACATGCACACATGAGCACATGTGCACACATGCACA TACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACATGCA CATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACA TGCACATACATACTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0018 a0001c0001t0006g0018	1	350	0.0029	366	c.-29 others(377): Show c.-2925_-2924insACATGCACACATGAGCACATGTGCACACATGCAC ATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACACGTACACACACATGCACACATGAGCAC ATGTGCACACATGCACATACTGGCACACGTACATGCACACATGAGCACAT GTGCACACATGCACATACATACTGGCACACGTACACGCACACATGAGCAC ATGTGCACACATGCACATACATACTGGCACACACGTACATGCACACATGA GCACATGTGCACACATGCACATACATACTGGC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2761		chr16	TogoVar
P2RY8_chrX_1457581_1542185	1514721	C C	CCTCCCCT others(359): Show CCTCCCCTCCTTTCCCTTCCCTTCCCTTCCCTTCCTTCCCTTCCTTCCCT TCCCTTCCTTCCCTTCCCTTCCCTTCCTTCCCTTCCTTCCCTTCCCTTCC TTCCCTTCCTTCCCTTCCCTTCCCTTCCTTCCCTTCCTTCCCTTCCCTTC CCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTTC CTCCCCTCCTTTCCCTTCCCTTCCCTTCCCTTCCTTCCCTTCCTTCCCTT CCCTTCCCTTCCCTTCCTTCCCTTCCTTCCCTTCCCTTCCTTCCCTTCCC TTCCCTTCCTTCCCTTCCTTCCCTTCCCTTCCCTTCCTTCCCTTCCTTCC CTTCCCTTCCTTCCCTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0024 a0002c0002t0004g0024	1	114	0.0088	366	c.-25 others(385): Show c.-25+22199_-25+22200insAAGGGAAGGAAGGGAAGGGAAGGAAG GGAAGGAAGGGAAGGGAAGGGAAGGAAGGGAAGGAAGGGAAGGGAAGGGA AGGAAGGGAAGGGAAGGAAGGGAAGGAAGGGAAGGGAAGGGAAGGGAAGG AAGGGAAGGAAGGGAAGGGAAGGGAAGGGAAAGGAGGGGAGGAAGGGAAG GAAGGGAAGGAAGGGAAGGAAGGGAAGGAAGGGAAGGAAGGGAAGGGAAG GGAAGGAAGGGAAGGAAGGGAAGGGAAGGGAAGGAAGGGAAGGAAGGGAA GGGAAGGAAGGGAAGGAAGGGAAGGGAAGGGAAGGAAGGGAAGGGAAGGA AGGGAAGGAAGGGAAGGGAAGGGAAGGGAAAGGAGGGGAG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PAK2_chr3_196734857_196837647	196811324	T T	TTTCCTTC others(359): Show TTTCCTTCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCT TCCTTCCCTTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCT CCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTC CCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCC CTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTCC CTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCC TTCCCTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCT TCCTTTCCTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0102 a0001c0001t0061g0102	1	178	0.0056	366	c.773 others(381): Show c.773+672_773+673insTCCTTCCTTCCTTCCCTTCCCTCCCTCCCC TCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCCCT TCCCTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTT CCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCC CCTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCC CTTCCTTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCC CTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCTTCCCT TCCTTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCBP3_chr21_45638725_45947450	45910134	C C	CGCCCACT others(359): Show CGCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGAC CTGGCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATAC AGACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCC AGATACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCCACACA CACTTCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGGACCTGG CCCACCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATACGGA CCCCCCCCCCACCCACTTCCCAGATATGGACCTGGCCACCCACTGCCCAG ATACGGACCCCCCGCCA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	292	0.0034	366	c.471 others(381): Show c.471+648_471+649insGCCCACTGCCCAGATACGGACCCGGCCCAC CCACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATACGGACCCGG CCACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATATGGA CCCCCCCAACCCACTTCCCAGATACGGACCCCCCCACACACACTTCCCAG ATACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCTCACCTGC TTCCCAAATATGGACCTGGCCCACCCACTGCCCAGATATGGACCCCCCCC ACCACTGCCCAGATACGGACCCCCCCCCCACCCACTTCCCAGATATGGAC CTGGCCACCCACTGCCCAGATACGGACCCCCCGCCA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17			chr21	TogoVar
PCBP3_chr21_45638725_45947450	45910134	C C	CGCCCACT others(359): Show CGCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGAC CTGGCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATAC AGACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCC AGATACGGACCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCACAC ACACTTCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGGACCTG GCCCACCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATACGG ACCCCCCCCCACCCACTTCCCAGATATGGACCTGGCCACCCACTGCCCAG ATACGGACCCCCCGCCA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	292	0.0034	366	c.471 others(381): Show c.471+648_471+649insGCCCACTGCCCAGATACGGACCCGGCCCAC CCACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATACGGACCCGG CCACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATATGGA CCCCCCCAACCCACTTCCCAGATACGGACCCCCCCCCCACCCACTGCCCA GATACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCTCACCTG CTTCCCAAATATGGACCTGGCCCACCCACTGCCCAGATATGGACCCCCCC CACCACTGCCCAGATACGGACCCCCCCCCACCCACTTCCCAGATATGGAC CTGGCCACCCACTGCCCAGATACGGACCCCCCGCCA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17			chr21	TogoVar

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