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
ADAMTS3_chr4_72275969_72574221	72400332	A A	ACACACGG others(168): Show ACACACGGTGTGTATATATACGTGTGCATAGATATGCACACGGTGTGTAT ATATACGTGTGCATAGATATGCACACGGTGTGTATATATACGTGTGCATA GATATGCACACGGTGTGTATATATACGTGTGCATAGATATGCACACGGTG TGTATATATACGTGTGCATAGATATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02004.hp1 HG02280.hp2 others(7): Show HG01891.hp2 HG02004.hp1 HG02280.hp2 HG02572.hp2 HG02809.hp2 HG02976.hp1 HG03130.hp2 HG03540.hp2 NA18906.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0003c0008	a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 a0001c0006t0001 a0003c0008t0006	a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 others(7): Show a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0007g0179 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0006t0001g0154 a0001c0006t0001g0157 a0003c0008t0006g0158	10	182	0.0550	175	c.661 others(194): Show c.661+14308_661+14482dupCATATCTATGCACACGTATATATACA CACCGTGTGCATATCTATGCACACGTATATATACACACCGTGTGCATATC TATGCACACGTATATATACACACCGTGTGCATATCTATGCACACGTATAT ATACACACCGTGTGCATATCTATGCACACGTATATATACACACCGTGTG	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72400372	C C	AGGTGTGT others(168): Show AGGTGTGTATATATACGTGTGCATAGATATACACACGGTGTGTATATATA CGTGTGCATAGATATACACACGGTGTGTATATATACGTGTGCATAGATAT ACACACGGTGTGTATATATACGTGTGCATAGATATACACACGGTGTGTAT ATATACGTGTGCATAGATATACACAC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	182	0.0055	175	c.661 others(194): Show c.661+14443_661+14444insTGTGTATATCTATGCACACGTATATA TACACACCGTGTGTATATCTATGCACACGTATATATACACACCGTGTGTA TATCTATGCACACGTATATATACACACCGTGTGTATATCTATGCACACGT ATATATACACACCGTGTGTATATCTATGCACACGTATATATACACACCT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72400582	C C	CGGTGTGT others(168): Show CGGTGTGTATATATACGTGTGCATAGATATACACACGGTGTGTATATATA CGTGTGCATAGATATACACACGGTGTGTATATATACGTGTGCATAGATAT ACACACGGTGTGTATATATACGTGTGCATAGATATACACACGGTGTGTAT ATATACGTGTGCATAGATATACACAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0168 a0001c0003t0001g0168	1	182	0.0055	175	c.661 others(194): Show c.661+14232_661+14233insATGTGTATATCTATGCACACGTATAT ATACACACCGTGTGTATATCTATGCACACGTATATATACACACCGTGTGT ATATCTATGCACACGTATATATACACACCGTGTGTATATCTATGCACACG TATATATACACACCGTGTGTATATCTATGCACACGTATATATACACACC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72400687	C C	CGGTGTGT others(168): Show CGGTGTGTATATATACGTGTGCATAGATATACACACGGTGTGTATATATA CGTGTGCATAGATATACACACGGTGTGTATATATACGTGTGCATAGATAT ACACACGGTGTGTATATATACGTGTGCATAGATATACACACGGTGTGTAT ATATACGTGTGCATAGATATACACAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0100 a0002c0002t0004g0100	1	182	0.0055	175	c.661 others(194): Show c.661+14127_661+14128insATGTGTATATCTATGCACACGTATAT ATACACACCGTGTGTATATCTATGCACACGTATATATACACACCGTGTGT ATATCTATGCACACGTATATATACACACCGTGTGTATATCTATGCACACG TATATATACACACCGTGTGTATATCTATGCACACGTATATATACACACC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72400692	T T	TGTATATA others(168): Show TGTATATATACGTGTGCATAGATATACACACGGTGTGTATATATACGTGT GCATAGATATACACACGGTGTGTATATATACGTGTGCATAGATATACACA CGGTGTGTATATATACGTGTGCATAGATATACACACGGTGTGTATATATA CGTGTGCATAGATATACACACGGTGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	182	0.0055	175	c.661 others(194): Show c.661+14122_661+14123insCCACCGTGTGTATATCTATGCACACG TATATATACACACCGTGTGTATATCTATGCACACGTATATATACACACCG TGTGTATATCTATGCACACGTATATATACACACCGTGTGTATATCTATGC ACACGTATATATACACACCGTGTGTATATCTATGCACACGTATATATAC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADAP1_chr7_892900_959680	902455	C C	CCTCAAAA others(168): Show CCTCAAAAAAAAAAAAAAAAAAAATGCCTGGGCGTGGTGGTGCGCGCCTA TAGTTCCAGCTACTTGGGAGGTTGGGAGGCTGAGGCAAGAAAATCACTTG AACCCAGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCATTGCACTCCA GCCTGGGCAACACAGCAAGACTCGAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	14	0.0714	175	c.648 others(192): Show c.648+1670_648+1671insATCGAGTCTTGCTGTGTTGCCCAGGCTG GAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCTGGGTTCA AGTGATTTTCTTGCCTCAGCCTCCCAACCTCCCAAGTAGCTGGAACTATA GGCGCGCACCACCACGCCCAGGCATTTTTTTTTTTTTTTTTTTTGAG	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	6/10			chr7	TogoVar
ADGB_chr6_146593972_146820462	146615248	T T	TAAGAATT others(168): Show TAAGAATTCACCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02451.hp2 HG01081.hp1 HG02451.hp2	a0008 a0009 a0008 a0009	a0008c0080 a0009c0079 a0008c0080 a0009c0079	a0008c0080t0008 a0009c0079t0009 a0008c0080t0008 a0009c0079t0009	a0008c0080t0008g0017 a0009c0079t0009g0018 a0008c0080t0008g0017 a0009c0079t0009g0018	2	276	0.0073	175	c.74+ others(192): Show c.74+16144_74+16145insCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTCAC	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADPRHL1_chr13_113394611_113458488	113412819	A A	ACTCGGTT others(168): Show ACTCGGTTCACCCACCGCCAACAGTGCCCCGCAGAGCTCGGTTCACCCAC CGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCCC GCAGAACTCGGTTCACCCACCGCCAACAGCACCCCGCAGAGCTCGGTTCA CCCACCGCCAACAGCGCCCCGCAGAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0024 a0004c0005t0024	a0004c0005t0024g0062 a0004c0005t0024g0062	1	262	0.0038	175	c.106 others(194): Show c.1062-4600_1062-4599insCTCTGCGGGGCGCTGTTGGCGGTGGG TGAACCGAGCTCTGCGGGGTGCTGTTGGCGGTGGGTGAACCGAGTTCTGC GGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCG GTGGGTGAACCGAGCTCTGCGGGGCACTGTTGGCGGTGGGTGAACCGAG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADSS1_chr14_104719229_104752310	104720512	T T	TCCTCGTG others(168): Show TCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGC TGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTG CGTCGTCCTCGTGTGGATGCTGCTGTGCACGTCTGCATAGTCTCGTGTGG ATGCTGCTGTGCACGTCTGCGTCGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA19088.hp2 NA18986.hp1 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0176 a0001c0002t0001g0177	2	402	0.0050	175	c.-37 others(186): Show c.-3759_-3758insCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCG TCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGC TGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGCACGTCTG CATAGTCTCGTGTGGATGCTGCTGTGCACGTCTGCGTCGTC	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding		3716		chr14	TogoVar
AFDN_chr6_167821911_167977023	167976167	C C	CAGGAGGC others(168): Show CAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAG GCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGCG GGGGTTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGTGGGGGT CACTCCCCCTGCAGTGTGTTGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0120 a0001c0004t0001g0120	1	326	0.0031	175	c.62 others(186): Show c.6232_*6233insAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTG TGTGGGGAGGAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGG GAGGAGGAGGCAGCGGGGGTTCACTCCCCCTGCAGTGTGTGTGGGGAGGA GGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTTGGGAGG	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4145		chr6	TogoVar
AFTPH_chr2_64519328_64598005	64548348	G G	CCGCCACT others(168): Show CCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAA GCGGAGCTTGCAGTGAGCCGAGATTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0017 a0010c0013t0017	a0010c0013t0017g0268 a0010c0013t0017g0268	1	372	0.0027	175	c.-32 others(192): Show c.-32-3096_-32-3095insCCGCCACTGCAGTCCGCAGTCCGGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATTAGCCG GGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT	AFTPH	ENSG00000119844.17	transcript	ENST00000409933.6	protein_coding	1/9			chr2	TogoVar
ANGPT1_chr8_107244482_107502918	107368450	G G	GTATTCCT others(168): Show GTATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT ATATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT ATATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT ATATTCCTTATACTTATTTATAAGTA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03225.hp1 HG03579.hp2 others(2): Show HG02486.hp1 HG03225.hp1 HG03579.hp2 HG03831.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0223 a0001c0001t0003g0156 a0001c0001t0004g0093 others(2): Show a0001c0001t0001g0223 a0001c0001t0003g0156 a0001c0001t0004g0093 a0001c0001t0006g0269 a0001c0001t0007g0220	5	292	0.0171	175	c.298 others(194): Show c.298-21528_298-21354dupTACTTATAAATAAGTATAAGGAATAT ACTTATAAATAAGTATAAGGAATATACTTATAAATAAGTATAAGGAATAT ACTTATAAATAAGTATAAGGAATATACTTATAAATAAGTATAAGGAATAT ACTTATAAATAAGTATAAGGAATATACTTATAAATAAGTATAAGGAATA	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANKLE2_chr12_132720503_132766832	132759046	C C	CGGGGCAC others(168): Show CGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCATCCCGGGGC ACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCACCCCAGGGCACCCAC ATGGCAGAGTGGATTGCGCAGTGTGGCACCCCGGGGCACCCACGTGGCAG AGAGGATCGCTGCGGAGTGGCACCCT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02056.hp1 HG02080.hp1 others(1): Show HG01981.hp2 HG02056.hp1 HG02080.hp1 NA18973.hp1	a0002 a0005 a0015 a0002 a0005 a0015	a0002c0002 a0005c0005 a0015c0025 a0002c0002 a0005c0005 a0015c0025	a0002c0002t0001 a0005c0005t0001 a0005c0005t0016 others(1): Show a0002c0002t0001 a0005c0005t0001 a0005c0005t0016 a0015c0025t0001	a0002c0002t0001g0308 a0005c0005t0001g0302 a0005c0005t0016g0303 others(1): Show a0002c0002t0001g0308 a0005c0005t0001g0302 a0005c0005t0016g0303 a0015c0025t0001g0281	4	350	0.0114	175	c.181 others(192): Show c.181+2571_181+2572insAGGGTGCCACTCCGCAGCGATCCTCTCT GCCACGTGGGTGCCCCGGGGTGCCACACTGCGCAATCCACTCTGCCATGT GGGTGCCCTGGGGTGCCACTCCGCAGCGATCCACTCTGCCACGTGGGTGC CCCGGGATGCCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANO3_chr11_26327130_26668289	26529212	T T	TTATATAT others(168): Show TTATATATTATATAATTATATATTATATAATATATTATATATTATATATA ATATATTATATAATATATATTATATAATATATAATATATATTATATATAT TATATAATTATATAATATATATAATATATATTATATAATTATATAATATA TATAATATATATTATATATTATATAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG06807.hp1 HG02647.hp1 HG06807.hp1	a0001 a0001	a0001c0008 a0001c0012 a0001c0008 a0001c0012	a0001c0008t0009 a0001c0012t0007 a0001c0008t0009 a0001c0012t0007	a0001c0008t0009g0152 a0001c0012t0007g0153 a0001c0008t0009g0152 a0001c0012t0007g0153	2	190	0.0105	175	c.738 others(192): Show c.738-1987_738-1986insTTATATAATTATATATTATATAATATAT TATATATTATATATAATATATTATATAATATATATTATATAATATATAAT ATATATTATATATATTATATAATTATATAATATATATAATATATATTATA TAATTATATAATATATATAATATATATTATATATTATATAATATATA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26529344	A A	ATATAATA others(168): Show ATATAATATATATTATATAATTATATAATATATATTATATATTATATAAT ATATATTATTAATAATATATATTATATAATATATAATATATAATATATAA TATAATATATAATATATATAATATATAATATATAATTATATAATATATAT TATATATATTATAATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0099 a0001c0001t0018g0099	1	190	0.0053	175	c.738 others(192): Show c.738-1858_738-1857insAATATATATTATATAATTATATAATATA TATTATATATTATATAATATATATTATTAATAATATATATTATATAATAT ATAATATATAATATATAATATAATATATAATATATATAATATATAATATA TAATTATATAATATATATTATATATATTATAATATATTATATATTAT	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO7_chr2_241183677_241230976	241218103	G G	GCAGCGGG others(168): Show GCAGCGGGGGCGCGCAGGGGCGGAGCGGGGGGCAGCGGGGGCGCGCAGGG GCGGGGCGGGGGCAGCGGGGGCGCGTAGGGGCGGGGCGGGGGGGGCAGCG GGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGAG CGGGGGCAGCGGGGGCGCGCAGGGGC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0163 a0001c0008t0004g0163	1	396	0.0025	175	c.217 others(192): Show c.2179-136_2179-135insCAGCGGGGGCGCGCAGGGGCGGAGCGGG GGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGCAGCGGGGGCGCGTAGG GGCGGGGCGGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAG CGGGGGCGCGCAGGGGCGGAGCGGGGGCAGCGGGGGCGCGCAGGGGC	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24			chr2	TogoVar
AP3S2_chr15_89825599_89898994	89854900	G G	GGGGGGTT others(168): Show GGGGGGTTGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGG CCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03209.hp2 HG02723.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0301 a0001c0001t0016g0302 a0001c0001t0016g0301 a0001c0001t0016g0302	2	312	0.0064	175	c.345 others(194): Show c.345+16574_345+16575insACCTCCCTCCCGGACGGGGCGGCTGG CCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCAACCCCC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AQP2_chr12_49945737_49963878	49962495	A A	ACCAGGAA others(168): Show ACCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAG GCCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAG GCCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAG GCCAGGAAGGCAAGAGCCTCCCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG01074.hp1 others(6): Show HG00280.hp1 HG00323.hp1 HG01074.hp1 HG01099.hp2 HG01175.hp1 HG01515.hp2 HG04115.hp1 HG04228.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0034 a0001c0001t0004 a0001c0001t0034	a0001c0001t0004g0005 a0001c0001t0034g0005 a0001c0001t0004g0005 a0001c0001t0034g0005	9	442	0.0204	175	c.68 others(186): Show c.6887_*6888insCCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGG CAAGAGCCTCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGG CAAGAGCCTCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGG CAAGAGCCTCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAGG	AQP2	ENSG00000167580.8	transcript	ENST00000199280.4	protein_coding		3618		chr12	TogoVar
AQP5_chr12_49956872_49970682	49962495	A A	ACCAGGAA others(168): Show ACCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAG GCCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAG GCCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAG GCCAGGAAGGCAAGAGCCTCCCAAGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01074.hp2 others(6): Show HG00280.hp1 HG00323.hp2 HG01074.hp2 HG01099.hp1 HG01175.hp2 HG01515.hp1 HG04115.hp2 HG04228.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0152 others(5): Show a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0002g0061 a0001c0001t0003g0151 a0001c0001t0003g0154 a0001c0001t0006g0153	9	466	0.0193	175	c.363 others(190): Show c.363+152_363+153insGAGCCTCCCAAGGCCAGGAAGGCAAGAGCC TCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGGCAAGAGCC TCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGGCAAGAGCC TCCCAAGGCCAGGAAGGCAAGAGCCTCCCAAGGCCAGGAAGGCAA	AQP5	ENSG00000161798.7	transcript	ENST00000293599.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARHGAP39_chr8_144524179_144690846	144687049	C C	CCCCCGTG others(168): Show CCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACGC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCAC TTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGAC CACGCACTGGCGGCGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	246	0.0041	175	c.-14 others(186): Show c.-1446_-1445insTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGG GTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGC CGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTC ACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1204		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687143	C C	CGAGCACT others(168): Show CGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACC CCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACT GGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTC CCACCCCGTGACCACACACTAGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	246	0.0041	175	c.-15 others(186): Show c.-1540_-1539insACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCT CGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTG GTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAA GTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1298		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687192	C C	CCCCGTGA others(168): Show CCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCAC TTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGAC CACACACTAGCGGCGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	246	0.0041	175	c.-15 others(186): Show c.-1589_-1588insTGGGAAGTGCTCGCCGCTAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTC ACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1347		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687228	C C	CCCCGTGA others(168): Show CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACT TCCCACCCCTGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGAC CACACACTGGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG02145.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0149 a0001c0002t0001g0218 a0001c0001t0001g0149 a0001c0002t0001g0218	2	246	0.0081	175	c.-16 others(186): Show c.-1625_-1624insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCA CTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGT CACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1383		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687228	C C	CCCCGTGA others(168): Show CCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCTGTGAC CACACACTGGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0117 a0001c0002t0001g0117	1	246	0.0041	175	c.-16 others(186): Show c.-1625_-1624insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGG GGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGT CACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1383		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687331	C C	CCACCCCG others(168): Show CCACCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCAC GCACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTAGCAGTGAGC ACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTG ACCACTCATTTACAGCGAGCACTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	246	0.0041	175	c.-17 others(186): Show c.-1728_-1727insAGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGT GGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCACTG CTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCAC GGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGTG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1486		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687652	C C	CCCCGTGA others(168): Show CCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACGC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCAC TTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGAC CACACACTGGCGGCGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	246	0.0041	175	c.-20 others(186): Show c.-2049_-2048insTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGC CGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTC ACGGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1807		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687829	C C	CCCCGTGA others(168): Show CCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACA TTTACAGTGAGCACTTCCCACCCCTGTGACCACACACTGGCGGCGAGCAC TTCCCACCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGAC CACACATTTACAGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0018 a0001c0001t0007g0018	1	246	0.0041	175	c.-22 others(186): Show c.-2226_-2225insTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGG GTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGC CGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGT CACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1984		chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1849772	T T	TAGAGGGC others(168): Show TAGAGGGCAAATGCTGAGGAGGGCTTGGGCGGCCACGTGGACACAGACAG CAAATGCTGAGGAGGGCGTGGGGCGACCATGTGGACACAGAGGGCAAATG CTGAGGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGG AGGGCGTGGGCCGGCTGCATGGACAC	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18994.hp2 HG02074.hp2 NA18994.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0034 a0001c0001 a0002c0034	a0001c0001t0004 a0002c0034t0004 a0001c0001t0004 a0002c0034t0004	a0001c0001t0004g0141 a0002c0034t0004g0148 a0001c0001t0004g0141 a0002c0034t0004g0148	2	363	0.0055	175	c.37+ others(190): Show c.37+6359_37+6360insTTGGGCGGCCACGTGGACACAGACAGCAAA TGCTGAGGAGGGCGTGGGGCGACCATGTGGACACAGAGGGCAAATGCTGA GGAGGGCGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGG CGTGGGCCGGCTGCATGGACACAGAGGGCAAATGCTGAGGAGGGC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1888189	T T	TTGTGAGG others(168): Show TTGTGAGGAGATGCTGAGTGGGGCTGTAGGTTCTGAGGAGACACTTAGTG GGGCGAGGGTTGCGAGGAGACAGTGAGTGGGGTGAGGGTTGTGAGGAGAC ACTTAGTGGGGCGAGGGTTGCGAGGAGACAGTGAGTGGGGTGAGGGTTGT GAGGAGATGCTGAGTGGGGCTGTAGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0220 a0001c0003t0001g0220	1	363	0.0028	175	c.118 others(194): Show c.1182+2483_1182+2484insGTGAGGAGATGCTGAGTGGGGCTGTA GGTTCTGAGGAGACACTTAGTGGGGCGAGGGTTGCGAGGAGACAGTGAGT GGGGTGAGGGTTGTGAGGAGACACTTAGTGGGGCGAGGGTTGCGAGGAGA CAGTGAGTGGGGTGAGGGTTGTGAGGAGATGCTGAGTGGGGCTGTAGGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF16_chr1_3449665_3486113	3450454	A A	AGTAATTT others(168): Show AGTAATTTTGCATTGGGTGCTGGAGGTCGTAAATGTGTAATTTTGCATTG GGTGCTGGAGGTCGTAAATGTGTAATTTTGCATTGGGTGCTGGAGGTCGT AAATGTGTAATTTTGCATTGGGTGCTGGAGGTCGTAAATGTGTAATTTTG CATTGGGTGCTGGAGGTCGTAAATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01515.hp1 HG02004.hp2 others(15): Show HG00642.hp2 HG01515.hp1 HG02004.hp2 HG02027.hp2 HG02258.hp1 HG02572.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02896.hp2 HG02970.hp2 HG03139.hp2 HG03579.hp1 NA18906.hp1 NA18980.hp2 NA18995.hp1 NA19080.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0012 a0003c0004 others(2): Show a0001c0001 a0002c0012 a0003c0004 a0003c0006 a0004c0010	a0001c0001t0001 a0002c0012t0001 a0003c0004t0002 others(3): Show a0001c0001t0001 a0002c0012t0001 a0003c0004t0002 a0003c0006t0002 a0003c0006t0015 a0004c0010t0002	a0001c0001t0001g0108 a0002c0012t0001g0090 a0003c0004t0002g0007 others(11): Show a0001c0001t0001g0108 a0002c0012t0001g0090 a0003c0004t0002g0007 a0003c0004t0002g0072 a0003c0004t0002g0082 a0003c0006t0002g0001 a0003c0006t0002g0062 a0003c0006t0002g0063 a0003c0006t0002g0065 a0003c0006t0015g0064 a0004c0010t0002g0057 a0004c0010t0002g0058 a0004c0010t0002g0059 a0004c0010t0002g0060	18	334	0.0539	175	c.-43 others(186): Show c.-4377_-4376insGTAATTTTGCATTGGGTGCTGGAGGTCGTAAATG TGTAATTTTGCATTGGGTGCTGGAGGTCGTAAATGTGTAATTTTGCATTG GGTGCTGGAGGTCGTAAATGTGTAATTTTGCATTGGGTGCTGGAGGTCGT AAATGTGTAATTTTGCATTGGGTGCTGGAGGTCGTAAATGT	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding		4210		chr1	TogoVar
ARHGEF16_chr1_3449665_3486113	3450539	G G	GGTGCTGG others(168): Show GGTGCTGGAGGTCGTAAATGTGTAATTTTGCATTGGGTGCTGGAGGTCGT AAATGTGTAATTTTGCATTGGGTGCTGGAGGTCGTAAATGTGTAATTTTG CATTGGGTGCTGGAGGTCGTAAATGTGTAATTTTGCATTGGGTGCTGGAG GTCGTAAATGTGTAATTTTGCATTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01081.hp1 HG01361.hp1 others(12): Show HG01070.hp1 HG01081.hp1 HG01361.hp1 HG02135.hp2 NA18946.hp1 NA18954.hp1 NA18961.hp2 NA18970.hp2 NA18986.hp2 NA18989.hp1 NA18991.hp1 NA18994.hp2 NA19003.hp1 NA19079.hp2 NA19090.hp1	a0003 a0003	a0003c0004 a0003c0015 a0003c0026 a0003c0004 a0003c0015 a0003c0026	a0003c0004t0002 a0003c0015t0002 a0003c0026t0001 a0003c0004t0002 a0003c0015t0002 a0003c0026t0001	a0003c0004t0002g0066 a0003c0004t0002g0067 a0003c0004t0002g0068 others(12): Show a0003c0004t0002g0066 a0003c0004t0002g0067 a0003c0004t0002g0068 a0003c0004t0002g0071 a0003c0004t0002g0073 a0003c0004t0002g0074 a0003c0004t0002g0075 a0003c0004t0002g0076 a0003c0004t0002g0077 a0003c0004t0002g0078 a0003c0004t0002g0080 a0003c0004t0002g0081 a0003c0015t0002g0069 a0003c0015t0002g0079 a0003c0026t0001g0070	15	334	0.0449	175	c.-42 others(186): Show c.-4292_-4291insGTGCTGGAGGTCGTAAATGTGTAATTTTGCATTG GGTGCTGGAGGTCGTAAATGTGTAATTTTGCATTGGGTGCTGGAGGTCGT AAATGTGTAATTTTGCATTGGGTGCTGGAGGTCGTAAATGTGTAATTTTG CATTGGGTGCTGGAGGTCGTAAATGTGTAATTTTGCATTGA	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding		4125		chr1	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(168): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCCC CCCTCCCCCCTCCCCTCCCCCTCCCCATCCCCCCTCCCCCTCCCCCCTCT CCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0006 a0003c0006t0001g0006	1	264	0.0038	175	c.102 others(192): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTC CCCCCTCCCCCTCCCCATCCCCCCTCCCCCCTCCCCTCCCCCTCCCCATC CCCCCTCCCCCTCCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(168): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCTC CCCCTCCCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCC CTCCCCCTCCCCCCTCCCCCTCCCTCCCCCGCCCCTCCCCCTCCCCCTCT CCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02080.hp1 HG02015.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0168 a0001c0001t0001g0069 a0001c0001t0001g0168	2	264	0.0076	175	c.102 others(192): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCTCCCCCTCCCCCCCCCTCCCCCTCCCCCTCC CCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCC CGCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(168): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCC CTCCCCCTCCCCCCTCCCCCTCCCTCCCCCGCCCCTCCCCCTCCCCCTCT CCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG02015.hp2 others(8): Show HG00140.hp2 HG00438.hp1 HG02015.hp2 HG02572.hp1 HG03491.hp1 HG03710.hp1 NA18612.hp2 NA18942.hp1 NA18962.hp2 NA19070.hp2 NA20752.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0005c0008 a0008c0011 a0001c0001 a0005c0008 a0008c0011	a0001c0001t0001 a0001c0001t0003 a0005c0008t0012 others(1): Show a0001c0001t0001 a0001c0001t0003 a0005c0008t0012 a0008c0011t0008	a0001c0001t0001g0035 a0001c0001t0001g0146 a0001c0001t0001g0150 others(8): Show a0001c0001t0001g0035 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0165 a0001c0001t0001g0224 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0003g0246 a0001c0001t0003g0251 a0005c0008t0012g0136 a0008c0011t0008g0205	11	264	0.0417	175	c.102 others(192): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCC CGCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASCC1_chr10_72091032_72221276	72198311	G G	GGAGGGGG others(168): Show GGAGGGGGAAGGAGATGGGGGAGGGCAGACGGGAGGGGGGACGGGGAGGG AAGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGAGGGGAGGGGGAGGGGA GGGGGAGGAGAGGGGGATGGGAGGGGGACGGGGAGGGGACGGGGAGGGGA GGGGAGATGGGAGGGGAGGGGAGGGT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02896.hp2 HG02698.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0020 a0001c0001t0002g0129 a0001c0001t0001g0020 a0001c0001t0002g0129	2	216	0.0093	175	c.311 others(192): Show c.311-1323_311-1322insACCCTCCCCTCCCCTCCCATCTCCCCTC CCCTCCCCGTCCCCTCCCCGTCCCCCTCCCATCCCCCTCTCCTCCCCCTC CCCTCCCCCTCCCCTCCCATCCCCCTCCCCTCCTCTTCCCTCCCCCTTCC CTCCCCGTCCCCCCTCCCGTCTGCCCTCCCCCATCTCCTTCCCCCTC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ATF1_chr12_50759101_50826162	50823520	T T	TTTATATA others(168): Show TTTATATATTATATATATAATCTATATTATATATAATATAGATTATATAT ATAATATAGATTATATATATAATCTATATTATATATAATATAGATTATAT AATCTATATTATATATATAATCTATATTATATATAATCTATATTATATAT ATAATCTATATTATATATAATATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02723.hp1 others(1): Show HG01891.hp1 HG02055.hp2 HG02723.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0035 others(1): Show a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0035 a0001c0001t0005g0316	4	382	0.0105	175	c.37 others(186): Show c.3741_*3742insTTATATATTATATATATAATCTATATTATATATA ATATAGATTATATATATAATATAGATTATATATATAATCTATATTATATA TAATATAGATTATATAATCTATATTATATATATAATCTATATTATATATA ATCTATATTATATATATAATCTATATTATATATAATATAGA	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2359		chr12	TogoVar
ATF1_chr12_50759101_50826162	50823520	T T	TTTATATA others(168): Show TTTATATATTATATATATAATCTATATTATATATAATATAGATTATATAT ATAATCTATATTATATATAATATAGATTATATATATAATATAGATTATAT ATATAATCTATATTATATATAATATAGATTATATAATCTATATTATATAT ATAATCTATATTATATATAATATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0361 a0001c0001t0003g0361	1	382	0.0026	175	c.37 others(186): Show c.3741_*3742insTTATATATTATATATATAATCTATATTATATATA ATATAGATTATATATATAATCTATATTATATATAATATAGATTATATATA TAATATAGATTATATATATAATCTATATTATATATAATATAGATTATATA ATCTATATTATATATATAATCTATATTATATATAATATAGA	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2359		chr12	TogoVar
B4GALT1_chr9_33105642_33172336	33126610	T T	TGTTAACC others(168): Show TGTTAACCATAGTTAACCATTGTTAACATTGTTAACTATTGTTAACATTG TTAACTATTGTTAACCATAGTTAACCATTGTTAACATTGTTAACTATTGT TAACCATAGTTAACCATTGTTAACATTGTTAACTATGGTTAACCATAGTT AACCATTGTTAACATTGTTAACTATG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	366	0.0027	175	c.649 others(192): Show c.649-6005_649-6004insCATAGTTAACAATGTTAACAATGGTTAA CTATGGTTAACCATAGTTAACAATGTTAACAATGGTTAACTATGGTTAAC AATAGTTAACAATGTTAACAATGGTTAACTATGGTTAACAATAGTTAACA ATGTTAACAATAGTTAACAATGTTAACAATGGTTAACTATGGTTAAC	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	2/5			chr9	TogoVar
BFSP2_chr3_133395056_133480208	133425980	G G	GAGGGGGG others(168): Show GAGGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAAGG GGAGGGGAAGGGGAAGGGGAAGGGGAGGGGAAGGGGAGGGGGAGGGGAGG GGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGAAGGCAGGGC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	276	0.0036	175	c.490 others(194): Show c.490-21336_490-21335insGGGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGAAGGGGAGGGGAAGGGGAAGGGGAAGGGGAGG GGAAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGG GAGGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAAGGCAGGGCA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425980	G G	GGAGGGGG others(168): Show GGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGAGAGGGGAGGGGAA GGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGAGGGGAGGG AAGGGGAGGGGAGGGGAAGGGGAGGGGGAGGGGAAGGGGAGGGGAGGGGG AGGGGGAGGGGAGGGGAAGGCAGGGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0150 a0001c0002t0001g0150	1	276	0.0036	175	c.490 others(194): Show c.490-21337_490-21336insGAGGGGGAGGGGGAGGGGAGGGGGGA GGGGAGGGGAGAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGA GGGGAGGGGGAGGGAGGGGAGGGAAGGGGAGGGGAGGGGAAGGGGAGGGG GAGGGGAAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAAGGCAGGGC	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6			chr3	TogoVar
C18orf63_chr18_74310839_74364189	74361934	A A	AATTATAT others(168): Show AATTATATATTTACGTATAATATAATTTATAATTATATATTTACGTATAA TATAATTTATAATTATATATTTATGTATAATATAATTTATAATTATATAC GTACAATATAATTTATATTATATATGTATATAATATAATTTATAATTATA TATTTATATATAATATAATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG03209.hp2 HG03579.hp1 others(1): Show HG02451.hp1 HG03209.hp2 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0018 a0001c0001t0014 a0001c0001t0018	a0001c0001t0014g0038 a0001c0001t0014g0114 a0001c0001t0018g0061 a0001c0001t0014g0038 a0001c0001t0014g0114 a0001c0001t0018g0061	4	372	0.0108	175	c.54 others(186): Show c.5487_*5488insATTATATATTTACGTATAATATAATTTATAATTA TATATTTACGTATAATATAATTTATAATTATATATTTATGTATAATATAA TTTATAATTATATACGTACAATATAATTTATATTATATATGTATATAATA TAATTTATAATTATATATTTATATATAATATAATTTATATT	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2746		chr18	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(168): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCGGCTGGCCGACCCCCCCCCCCTCCCCCCGCCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA19012.hp2 HG01192.hp2 NA19012.hp2	a0034 a0035 a0034 a0035	a0034c0048 a0035c0044 a0034c0048 a0035c0044	a0034c0048t0001 a0035c0044t0001 a0034c0048t0001 a0035c0044t0001	a0034c0048t0001g0165 a0035c0044t0001g0217 a0034c0048t0001g0165 a0035c0044t0001g0217	2	326	0.0061	175	c.144 others(192): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCTCC CCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539826	C C	CGCCCCTC others(168): Show CGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCCCCCCC CGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG03540.hp2 HG01167.hp2 HG01169.hp2 HG03540.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0009 a0006c0005t0002g0010 a0006c0005t0002g0011 a0006c0005t0002g0009 a0006c0005t0002g0010 a0006c0005t0002g0011	3	326	0.0092	175	c.144 others(192): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCCCC CCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C5AR1_chr19_47304861_47327066	47305966	A A	ATTTTTTT others(168): Show ATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCCGCGCCCGGCTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	376	0.0027	175	c.-39 others(186): Show c.-3930_-3929insTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCCGCGCCCGGCTAAT	C5AR1	ENSG00000197405.8	transcript	ENST00000355085.4	protein_coding		3894		chr19	TogoVar
C5AR1_chr19_47304861_47327066	47305966	A A	ATTTTTTT others(168): Show ATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCG GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCGCGCCCGGCTAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01099.hp1 HG01175.hp2 others(15): Show HG00597.hp2 HG01099.hp1 HG01175.hp2 HG01517.hp1 HG02056.hp1 NA18948.hp2 NA18951.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18962.hp1 NA18967.hp1 NA18995.hp2 NA19006.hp1 NA19060.hp2 NA19082.hp1 NA19082.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0003c0006t0001 a0001c0001t0001 a0001c0001t0003 a0003c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0061 a0003c0006t0001g0036	18	376	0.0479	175	c.-39 others(186): Show c.-3930_-3929insTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT	C5AR1	ENSG00000197405.8	transcript	ENST00000355085.4	protein_coding		3894		chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(168): Show TTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTCTTTCTTTC TTTCTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCTCTCTCTCT CTCTCTCTCTCTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	218	0.0046	175	c.573 others(194): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAGAGAGAGAGAG AGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAAA GAAAGAAAGAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221234	C C	CTTTCTTT others(168): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTT TCTTTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTTTCT TTCTTTCTTTCTTTCTTTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0034 a0034	a0034c0081 a0034c0081	a0034c0081t0019 a0034c0081t0019	a0034c0081t0019g0152 a0034c0081t0019g0152	1	218	0.0046	175	c.573 others(194): Show c.5731+3432_5731+3433insAGAAAGAAAAAGAAAGAAAGAAAGAA AGAAAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGA AAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNB4_chr2_151827771_152104044	152074603	T T	TCTCCACC others(168): Show TCTCCACCATCACCATCACCCCCTCACCATTACCACCTCCACCATCACCA TCACCCCCTCACCATTACCACCTCCACCATCACCATCACCCCCTCACCAT TACCACCTCCACCATCACCATCACCCCCTCACCATTACCACCTCTATCAT CACCATCACCCCCTCACCATTACCAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02647.hp2 HG03041.hp2 others(1): Show HG01256.hp1 HG02647.hp2 HG03041.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0110 a0001c0002t0002g0069 a0001c0002t0002g0070 others(1): Show a0001c0001t0001g0110 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0200	4	230	0.0174	175	c.147 others(194): Show c.147+23726_147+23727insGTGGTAATGGTGAGGGGGTGATGGTG ATGATAGAGGTGGTAATGGTGAGGGGGTGATGGTGATGGTGGAGGTGGTA ATGGTGAGGGGGTGATGGTGATGGTGGAGGTGGTAATGGTGAGGGGGTGA TGGTGATGGTGGAGGTGGTAATGGTGAGGGGGTGATGGTGATGGTGGAG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CACNB4_chr2_151827771_152104044	152074603	T T	TCTCCACC others(168): Show TCTCCACCATCACCATCACCCCCTCACCATTACCACCTCCACCATCACCA TCACCCCCTCACCATTACCACCTCTATCATCACCATCACCCCCTCACCAT TACCACCTCCACCATCACCATCACCCCCTCACCATTACCACCTCTATCAT CACCATCACCCCCTCACCATTACCAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02083.hp2 NA19002.hp2 others(1): Show HG00323.hp1 HG02083.hp2 NA19002.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0002 a0001c0002t0003 a0001c0001t0007 a0001c0002t0002 a0001c0002t0003	a0001c0001t0007g0006 a0001c0002t0002g0174 a0001c0002t0002g0188 others(1): Show a0001c0001t0007g0006 a0001c0002t0002g0174 a0001c0002t0002g0188 a0001c0002t0003g0186	4	230	0.0174	175	c.147 others(194): Show c.147+23726_147+23727insGTGGTAATGGTGAGGGGGTGATGGTG ATGATAGAGGTGGTAATGGTGAGGGGGTGATGGTGATGGTGGAGGTGGTA ATGGTGAGGGGGTGATGGTGATGATAGAGGTGGTAATGGTGAGGGGGTGA TGGTGATGGTGGAGGTGGTAATGGTGAGGGGGTGATGGTGATGGTGGAG	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
CALCOCO2_chr17_48826035_48870245	48857974	C C	CAATAGAA others(168): Show CAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	328	0.0031	175	c.100 others(194): Show c.1008+1859_1008+1860insTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar

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