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
IL3RA_chrX_1331785_1387689	1360946	C C	CCTCTCTG others(207): Show CCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCC TCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTC TGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTC TCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTC TCTCTCCCTTCCCCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0039 a0001c0001t0010g0039	1	115	0.0087	214	c.759 others(231): Show c.759+2063_759+2064insCTGTCTCTCTCTCCCTTCCCCTCTCTGT CTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCT CTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCT CTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCC CTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
INSIG2_chr2_118083471_118115997	118093956	G G	GGAGAGTT others(207): Show GGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATGATGATG ATGATGATGATGATGATGATGATGATGATGATGATGGAGAGTTCTGTAGC TACTGAACCTTGCTGAAAGCAACCAGATGATGATGATGAGGAGGAGGAGG AGGAGGAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCTAAAAGCAACCA GATGATGATGATGAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0171 a0001c0001t0004g0171	1	440	0.0023	214	c.-13 others(233): Show c.-138-2460_-138-2459insAGTTCTGTAGCTACTGAACCTTGCCA AAAGCAACCAGATGATGATGATGATGATGATGATGATGATGATGATGATG ATGATGGAGAGTTCTGTAGCTACTGAACCTTGCTGAAAGCAACCAGATGA TGATGATGAGGAGGAGGAGGAGGAGGAGGAGGAGAGTTCTGTAGCTACTG AACCTTGCTAAAAGCAACCAGATGATGATGATGATGAG	INSIG2	ENSG00000125629.16	transcript	ENST00000245787.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGA3_chr17_50051110_50095481	50086190	T T	TTATATAT others(207): Show TTATATATATTATACATGTATAATATATATATTAGATTATATATATTATA CATGTATAATATATATATTAGATTATATATATTATACATGTATAATATAT ATATTAGATTATATATATTATACATGTATAATATATATTAGATTATATAT ATTATACATGTATAATATATATATTAGATTATATATATTATACATGTATA ATATATATTAGATTA	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA20300.hp1 HG02717.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0327 a0001c0001t0016g0280 a0001c0001t0002g0327 a0001c0001t0016g0280	2	402	0.0050	214	c.292 others(233): Show c.2920-1547_2920-1546insATTATACATGTATAATATATATATTA GATTATATATATTATACATGTATAATATATATATTAGATTATATATATTA TACATGTATAATATATATATTAGATTATATATATTATACATGTATAATAT ATATTAGATTATATATATTATACATGTATAATATATATATTAGATTATAT ATATTATACATGTATAATATATATTAGATTATATATAT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
KCNMB2_chr3_178531436_178849429	178758232	A A	ATCCAAGA others(207): Show ATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATAT ATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATAT ATATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGAT ATATATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGG ATATATATATATATC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0205 a0001c0001t0003g0205	1	232	0.0043	214	c.-67 others(233): Show c.-67-49105_-67-49104insAGGATATATATATATATATATATATC CAAGAGGATATATATATATATATATATATCCAAGAGGATATATATATATA TATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATA TATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATCTCCAAG	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIAA0930_chr22_45187244_45245894	45228892	T T	TCCCCCCC others(207): Show TCCCCCCCCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACTC ACCTGAGAGATCCCTCTCCACCCCCCAACCACTCACCTGAGAGATCCCTC TCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTTCACCCCCCAA CCACCACTCACCCGAAAGATCCCTCCCCATCCCCCCCCACCACTCACCCG AAAGATCCCTCTCCA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG04115.hp2 HG01168.hp2 HG01169.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0107 a0001c0001t0059 a0001c0001t0107	a0001c0001t0059g0090 a0001c0001t0059g0354 a0001c0001t0107g0091 a0001c0001t0059g0090 a0001c0001t0059g0354 a0001c0001t0107g0091	3	398	0.0075	214	c.64+ others(231): Show c.64+11747_64+11748insTGGAGAGGGATCTTTCGGGTGAGTGGTG GGGGGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGAAG AGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCA GGTGAGTGGTTGGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTTGGGGG GTGGAGAGGGATCTTTCGGGTGAGTGGTGGGGGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF17_chr1_20659014_20723007	20712841	G G	GATATTAT others(207): Show GATATTATCTATATTATAGATATAGATATTATCTATATCTATATTATAGA TAATATCTATAATATAGATATTATCTATATTATAGATAATATCTATAATA TAGATATTATCTATATTATAGATAATATCTATAATATAGATATAGATATT ATCTATATCTATAATATAGATAATATTATCTATATTATAGATATAGATAA TATTATCTATATTAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02886.hp2 HG01099.hp1 HG02886.hp2	a0001 a0008 a0001 a0008	a0001c0134 a0008c0012 a0001c0134 a0008c0012	a0001c0134t0001 a0008c0012t0002 a0001c0134t0001 a0008c0012t0002	a0001c0134t0001g0361 a0008c0012t0002g0362 a0001c0134t0001g0361 a0008c0012t0002g0362	2	414	0.0048	214	c.480 others(229): Show c.480+612_480+613insATAATATAGATAATATTATCTATATCTATA ATATAGATAATATTATCTATATTATAGATATAGATAATATCTATATCTAT ATTATAGATATTATCTATAATATAGATAATATCTATATTATAGATATTAT CTATAATATAGATAATATCTATATTATAGATATTATCTATAATATAGATA TAGATAATATCTATATCTATAATATAGATAATAT	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF1A_chr2_240708767_240825219	240780814	A A	ACACACAC others(207): Show ACACACACACAGCTCCACACACACACACACACACAGCTCCACACACACAC ACAGCTACACACACACACACACACAGCTCCACACACACACACACACACAG CTCCACACACACACAGCTCCACACACACACACACACAGCTCCACACACAC ACACACACACACACACACAGCTCCACACACACACACACACACAGCTCCAC ACACACACACAGCTC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0018 a0001c0002t0010g0018	1	330	0.0030	214	c.882 others(231): Show c.882+1775_882+1776insGAGCTGTGTGTGTGTGTGGAGCTGTGTG TGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGGAGC TGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGAGCTGTGTGTGTGTG TGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTAGCTGTGTGTGTGTGTGGA GCTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KLHL18_chr3_47277944_47351816	47316709	A A	ATGTGTGT others(207): Show ATGTGTGTGTATATATACATATATACGTATATATGTATATGTGTGTATAT ATACATATATACGTATATATGTATATGTGTGTATATATACATATATACGT ATATATGTATATGTGTGTATATATACATATATACGTATATATGTATATGT GTGTATATATACATATATACGTATATATGTATATGTGTGTATATACACAT ATATACGTATATATG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	338	0.0030	214	c.130 others(231): Show c.130-2943_130-2942insGTGTGTGTATATATACATATATACGTAT ATATGTATATGTGTGTATATATACATATATACGTATATATGTATATGTGT GTATATATACATATATACGTATATATGTATATGTGTGTATATATACATAT ATACGTATATATGTATATGTGTGTATATATACATATATACGTATATATGT ATATGTGTGTATATACACATATATACGTATATATGT	KLHL18	ENSG00000114648.12	transcript	ENST00000232766.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
KLHL18_chr3_47277944_47351816	47316723	G G	GTGTATAT others(207): Show GTGTATATATACATATATACGTATATATGTATATGTGTGTATATATACAT ATATACGTATATATGTATATGTGTGTATATATACATATATACGTGTATAT GTATATGTGTGTATATATACATATATACGTGTATATGTATATGTGTGTAT ATATACATATATACGTATATATGTATATGTATATATGTGTATATATACAC ATATATACGTATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	338	0.0030	214	c.130 others(231): Show c.130-2927_130-2926insATATATACATATATACGTATATATGTAT ATGTGTGTATATATACATATATACGTATATATGTATATGTGTGTATATAT ACATATATACGTGTATATGTATATGTGTGTATATATACATATATACGTGT ATATGTATATGTGTGTATATATACATATATACGTATATATGTATATGTAT ATATGTGTATATATACACATATATACGTATATATGT	KLHL18	ENSG00000114648.12	transcript	ENST00000232766.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
KLHL23_chr2_169728832_169756878	169749968	T T	TATATGTG others(207): Show TATATGTGTATATATACGTATGTATGTATACATATATGTGTATATATACG TATGTATGTATACATATATGTGTATATATACGTATGTATACATATATGTG TATATATACGTATGTATGTATACATATATGTGTATATATACGTATGTATA CATATATGTGTATATATACGTATGTATGTATACATATATGTGTATATATA CGTTTGTATGTATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0059 a0001c0001t0107g0059	1	400	0.0025	214	c.24 others(223): Show c.240_*241insGTGTATATATACGTATGTATGTATACATATATGTGT ATATATACGTATGTATGTATACATATATGTGTATATATACGTATGTATAC ATATATGTGTATATATACGTATGTATGTATACATATATGTGTATATATAC GTATGTATACATATATGTGTATATATACGTATGTATGTATACATATATGT GTATATATACGTTTGTATGTATACATAT	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	241	INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL23_chr2_169728832_169756878	169750078	A A	ATGTATAC others(207): Show ATGTATACATATATGTGTATATATACGTATGTATACATATATGTGTATAT ATACGTATGTATGTATACATATATGTGTATATATACGTATGTATGTATAC ATATATGTGTATATATACGTATGTATGTATACATATATGTATATATACGT TTGTATGTATACATATATGTGTATATATACGTTTGTATGTATACATATAT GTGTATATATACGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0127 a0001c0001t0127	a0001c0001t0127g0295 a0001c0001t0127g0295	1	400	0.0025	214	c.35 others(223): Show c.351_*352insACATATATGTGTATATATACGTATGTATACATATAT GTGTATATATACGTATGTATGTATACATATATGTGTATATATACGTATGT ATGTATACATATATGTGTATATATACGTATGTATGTATACATATATGTAT ATATACGTTTGTATGTATACATATATGTGTATATATACGTTTGTATGTAT ACATATATGTGTATATATACGTGTGTAT	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	352	INFO_REALIGN_3_PRIME	chr2	TogoVar
LAIR1_chr19_54346384_54369931	54349647	A A	AGGATGGA others(207): Show AGGATGGATGGAAGGAGGACGCAGATCCTGAGGGTGGAGGGATGGAGGAC GCAGATCCTGAGGATGGATGGAGGGAGGATGCAGATCCTGAGGGTGGATG GATGGAGGACGCAGATCCTGAGGATGGATGGAGGGAGGACACAGATCCTG AGGATGGATGGAGGGAGGACGCAGATCCTGAGGGTGAATGGATGGAGGAC GCAGATCCTGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0007 a0002c0002t0004g0007	1	462	0.0022	214	c.56 others(225): Show c.5620_*5621insACCCTCAGGATCTGCGTCCTCCATCCATTCACCC TCAGGATCTGCGTCCTCCCTCCATCCATCCTCAGGATCTGTGTCCTCCCT CCATCCATCCTCAGGATCTGCGTCCTCCATCCATCCACCCTCAGGATCTG CATCCTCCCTCCATCCATCCTCAGGATCTGCGTCCTCCATCCCTCCACCC TCAGGATCTGCGTCCTCCTTCCATCCATCC	LAIR1	ENSG00000167613.16	transcript	ENST00000391742.7	protein_coding		1736		chr19	TogoVar
LAMC1_chr1_183018420_183150592	183149689	C C	CCTCTCCT others(207): Show CCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACA CAGCTCACATCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTC ACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACAC CCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCAC ACAGCTCACACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0257 a0001c0003t0003g0257	1	308	0.0033	214	c.68 others(225): Show c.6899_*6900insCTCTCCTCCTCACACCACAGAGCCCACACCCCTC TCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCT CACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACA CCACACAGCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCT CTCCTCACACACCACACAGCTCACACCCCT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4098		chr1	TogoVar
LAMC1_chr1_183018420_183150592	183149847	T T	TCCTCCTC others(207): Show TCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACACA GCCCACACCCCTCTCCTCACACACCAGACAGCTCACACCCCTCTCCTCCT CACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACA TCCCTCTCCTCACACACCACACAGCTCACACCCCTGTCCTCCTCACACAC CACACAGCCCACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0262 a0001c0003t0003g0262	1	308	0.0033	214	c.70 others(225): Show c.7057_*7058insCCTCCTCACACACCACACAGCTCACACCCCTCTC CTCACACACCACACAGCCCACACCCCTCTCCTCACACACCAGACAGCTCA CACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACAC ACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCTCACACCCCT GTCCTCCTCACACACCACACAGCCCACACC	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4256		chr1	TogoVar
LAT2_chr7_74205006_74234834	74214151	A A	AAAATATA others(207): Show AAAATATATATATATGAAAATATATATAAAAATATATATATATGAAAATA TATATAAAAATATATATATATGAAAATATATATAAAAATATATATATATG AAAATATATATATGAAAATATATATATAAATATATATATATGAAAATATA TATATAAATATATATATATGAAAATATATATATAAATATATATATATGAA AATATATATATAAAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	344	0.0029	214	c.-21 others(231): Show c.-218-670_-218-669insAATATATATATATGAAAATATATATAAA AATATATATATATGAAAATATATATAAAAATATATATATATGAAAATATA TATAAAAATATATATATATGAAAATATATATATGAAAATATATATATAAA TATATATATATGAAAATATATATATAAATATATATATATGAAAATATATA TATAAATATATATATATGAAAATATATATATAAATA	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LCN15_chr9_136754634_136769518	136769485	A A	ACCCCCCC others(207): Show ACCCCCCCATGCACTTCCCCCCCCGCCACCCCGCCACCACCCCATGCACT TCCCCCCCCGCCACCCCGCCACCCCCCCCATGCACTTCCCCCCCGCCACC CCGCCACCACCCCATGCACTTCCCCCCCCCGCCACCCCCGCCACCCCCCC ATGCACTTCCCCCCCGCCACCCCGCCACCACCCCATGCACTGCCCCCCCC CGCCACCCCCGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	356	0.0028	214	c.-49 others(225): Show c.-4998_-4997insGTGGCGGGGGTGGCGGGGGGGGGCAGTGCATGGG GTGGTGGCGGGGTGGCGGGGGGGAAGTGCATGGGGGGGTGGCGGGGGTGG CGGGGGGGGGAAGTGCATGGGGTGGTGGCGGGGTGGCGGGGGGGAAGTGC ATGGGGGGGGTGGCGGGGTGGCGGGGGGGGAAGTGCATGGGGTGGTGGCG GGGTGGCGGGGGGGGAAGTGCATGGGGGGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4968		chr9	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(207): Show CCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCCGGG CCACGTACTTACTACATACCCGGGCCACTTACTTACCTACTACATACCCG GGCCACTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0250 a0001c0008t0001g0250	1	296	0.0034	214	c.368 others(231): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTA GGTAAGTAAGTGGCCCGGGTATGTAGTAAGTACGTGGCCCGGGTATGTAG TAAGTACGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGT AGTAAGTACGTGGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC28_chr15_99246481_99395729	99389386	T T	TTCAAAGC others(207): Show TTCAAAGCCAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCCCTGTCGCCCAGGC TGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGGCGC GCGCCACCACGCCCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0216 a0001c0001t0216	a0001c0001t0216g0022 a0001c0001t0216g0022	1	332	0.0030	214	c.32 others(225): Show c.3299_*3300insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCCCTGTCGCCCAGGC TGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGGCGC GCGCCACCACGCCCGTCAAAGCCAATTTTT	LRRC28	ENSG00000168904.15	transcript	ENST00000301981.8	protein_coding	10/10	3300	INFO_REALIGN_3_PRIME	chr15	TogoVar
MACROD2_chr20_13990516_16058197	14862442	T T	TATATATA others(207): Show TATATATAAATATATATATAAATATATATATAAATATATATAAATATATA TATAAATATATATATAAATATATATAAATATATATATAAATATATATATA AATATATATAAATATATATATAAATATATATATAAATATATATAAATATA TATAAATATATATATAAATATATATATAAATATATATATAAATATATATA AATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	24	0.0417	214	c.418 others(235): Show c.418+177490_418+177491insAATATATATATAAATATATATATA AATATATATAAATATATATATAAATATATATATAAATATATATAAATATA TATATAAATATATATATAAATATATATAAATATATATATAAATATATATA TAAATATATATAAATATATATAAATATATATATAAATATATATATAAATA TATATATAAATATATATAAATATATATATATAAATATATA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAP2K2_chr19_4085321_4129122	4122308	A A	ACCCCCCT others(207): Show ACCCCCCTCACCCCATCTCTCCCCCACAGGGACCCCCTCACCCCATCTCT CCCCCCACAGGGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCC ACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCTCTCTCCCCATA GGGACCCTCCCACCCCATCTCTCCCCCATAGGGACCCTCCCACCCCATCT CTCCCCCACAGGGAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	330	0.0030	214	c.92+ others(229): Show c.92+1475_92+1476insGTCCCTGTGGGGGAGAGATGGGGTGGGAGG GTCCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATGGGGAGAGAGAT GGGGTGGGAGGGTCCCTATGGGGGAGAGATGGGGTGGGAGGGTCCCTATG GGGGAGAGATGGGGTGGGAGGGTCCCTGTGGGGGGAGAGATGGGGTGAGG GGGTCCCTGTGGGGGAGAGATGGGGTGAGGGGGG	MAP2K2	ENSG00000126934.15	transcript	ENST00000262948.10	protein_coding	1/10			chr19	TogoVar
MAP3K13_chr3_185358136_185494094	185453934	G G	GATATATA others(207): Show GATATATATGTGATACATATATATGAGATATATATGTGATACATATATAT GAGATATATATGTGATACATATATATGAGATATATATGTGATGATACATA TATATGAGATATATATGTGATGATACATATATATGAGATATATATGTGAT ACATATATATGAGATATATATGTGATACATATATATGAGATATATATGAT ACATATATATGAGAT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	278	0.0036	214	c.127 others(233): Show c.1278+2548_1278+2549insTGATACATATATATGAGATATATATG TGATACATATATATGAGATATATATGTGATACATATATATGAGATATATA TGTGATGATACATATATATGAGATATATATGTGATGATACATATATATGA GATATATATGTGATACATATATATGAGATATATATGTGATACATATATAT GAGATATATATGATACATATATATGAGATATATATATG	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(207): Show AGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGA GGGGGGAGGGGGGAGGGGGGAGAGGGGAGAGGGGGGAGGGGGGAGGGGGG AGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGG GGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGGAGAGGGG GGAGGGGGGAGAGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	163	0.0061	214	c.525 others(231): Show c.525+8627_525+8628insCCCTCTCCCCCCTCCCCCCTCTCCCCCC CTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCCTCCCCCCTCC CCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCC TCCCCCCTCTCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCTC CCCCCTCCCCCCTCTCCCCCTCTCCCCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(207): Show AGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGA GGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGG AGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAG GGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGGAGAGGGG GGAGGGGGGAGAGGG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	163	0.0061	214	c.525 others(231): Show c.525+8627_525+8628insCCCTCTCCCCCCTCCCCCCTCTCCCCCC CTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCC CCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCC TCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCTC CCCCCTCCCCCCTCTCCCCCTCTCCCCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(207): Show AGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGA GGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGG AGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGG GGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGGAGAGGGG GGAGGGGGGAGAGGG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	163	0.0061	214	c.525 others(231): Show c.525+8627_525+8628insCCCTCTCCCCCCTCCCCCCTCTCCCCCC CTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCCTCCCCCCTCC CCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCC TCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCTC CCCCCTCCCCCCTCTCCCCCTCTCCCCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(207): Show AGGGGGGAGGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAG AGGGGGGAGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGGGGGGAGGGGG GAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGGG GGGGGAGGGGGGGAGAGGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGG GAGGGGGGGAGAGGG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0019 a0019	a0019c0025 a0019c0025	a0019c0025t0004 a0019c0025t0004	a0019c0025t0004g0017 a0019c0025t0004g0017	1	163	0.0061	214	c.525 others(231): Show c.525+8627_525+8628insCCCTCTCCCCCCCTCCCCCCTCCCCCCT CCCCCCTCCCCCCTCCCCCCCTCTCCCCCCCTCCCCCCCCTCCCCCTCCC CCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCT CCCCCCTCCCCCCCTCTCCCCCCTCCCCCTCCCCCCTCTCCCCCCTCTCC CCCCTCCCCCCTCTCCCCCTCTCCCCCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP4K4_chr2_101692707_101899690	101785676	C C	CTTTTCTT others(207): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0203 a0001c0003t0021g0203	1	310	0.0032	214	c.124 others(231): Show c.124-5044_124-5043insTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32			chr2	TogoVar
MCC_chr5_113017106_113493453	113333838	T T	TATATGTA others(207): Show TATATGTATATATGTACATATATGTATATATGTATATATGTATATATGTA CATATATGTATATATGTATATATGTACATATATACATATATGTACATATA TGTATATATGTACACATGTACATATATGTACATATGTACACATGTACATA TATGTACATATGTACATATATGTACATATATGTACATATATGTACATATA TGTACATATATGTAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA18612.hp1 NA18947.hp1 others(1): Show HG00741.hp1 NA18612.hp1 NA18947.hp1 NA20752.hp1	a0002 a0002	a0002c0001 a0002c0002 a0002c0057 a0002c0001 a0002c0002 a0002c0057	a0002c0001t0002 a0002c0002t0001 a0002c0057t0029 a0002c0001t0002 a0002c0002t0001 a0002c0057t0029	a0002c0001t0002g0119 a0002c0002t0001g0120 a0002c0002t0001g0129 others(1): Show a0002c0001t0002g0119 a0002c0002t0001g0120 a0002c0002t0001g0129 a0002c0057t0029g0118	4	160	0.0250	214	c.627 others(231): Show c.627+6680_627+6681insGTACATATATGTACATATATGTACATAT ATGTACATATATGTACATATATGTACATATGTACATATATGTACATGTGT ACATATGTACATATATGTACATGTGTACATATATACATATATGTACATAT ATGTATATATGTACATATATACATATATACATATATGTACATATATACAT ATATACATATATACATATATGTACATATATACATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113333846	T T	TATATGTA others(207): Show TATATGTACATATATGTATATATGTATATATGTATATATGTACATATATG TATATATGTATATATGTACATATATACATATATGTACATATATGTATATA TGTACACATGTACATATATGTACATATGTACACATGTACATATATGTACA TATGTACATATATGTACATATATGTACATATATGTACATATATGTACATA TATGTACATATGTAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0016 a0002c0013t0016	a0002c0013t0016g0151 a0002c0013t0016g0151	1	160	0.0063	214	c.627 others(231): Show c.627+6672_627+6673insGTACATATGTACATATATGTACATATAT GTACATATATGTACATATATGTACATATATGTACATATGTACATATATGT ACATGTGTACATATGTACATATATGTACATGTGTACATATATACATATAT GTACATATATGTATATATGTACATATATACATATATACATATATGTACAT ATATACATATATACATATATACATATATGTACATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MPI_chr15_74885042_74907219	74894107	T T	TGTGTTTT others(207): Show TGTGTTTTCTGAGCCAGGGTCTCTTTCTGTTGCCCCAGGCTGGAGTGCAG TGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATT CTCCTGCATTATTTATTTGACCCAAGCATATTTTTTTCTGTTCAGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTTTCTGAGCCAG	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0130 a0001c0003t0016g0130	1	422	0.0024	214	c.670 others(229): Show c.670+788_670+789insTGTTTTCTGAGCCAGGGTCTCTTTCTGTTG CCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCC TCCCGGGTTCAAGCAATTCTCCTGCATTATTTATTTGACCCAAGCATATT TTTTTCTGTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTTTCTGAGCCAGG	MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYOM2_chr8_2040046_2150456	2086045	C C	CCCCTACT others(207): Show CCCCTACTGTCATGATCTCCACGTGGCCACACACTGTCATGATCTCTGTG TGGCCCCCCACTGTCGTGATCTCTGTGTGGCCCACCGCTGTCGTGATCTC CGCGTGGCCCCTCACTGTCGTGATCTCCGCGTGGCCCCTCACTGTCGTGA TCTCTGTGTGGCCCACCGCTGTCGTGATCTCCGCGTGGCCCCTCACTGTC GTGATCTCCGCGTGG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0005 a0005	a0005c0091 a0005c0091	a0005c0091t0002 a0005c0091t0002	a0005c0091t0002g0339 a0005c0091t0002g0339	1	403	0.0025	214	c.164 others(231): Show c.1644+658_1644+659insTACTGTCATGATCTCCACGTGGCCACAC ACTGTCATGATCTCTGTGTGGCCCCCCACTGTCGTGATCTCTGTGTGGCC CACCGCTGTCGTGATCTCCGCGTGGCCCCTCACTGTCGTGATCTCCGCGT GGCCCCTCACTGTCGTGATCTCTGTGTGGCCCACCGCTGTCGTGATCTCC GCGTGGCCCCTCACTGTCGTGATCTCCGCGTGGCCC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086106	T T	TGTCGTGA others(207): Show TGTCGTGATCTCTGCGTGGCACCCCACTGTCGTGATCTCTGCGTGGCACC CCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGTGTGG CCCCCCACTGTCGTGATCTCTGCGTGGCACCCCACTGTCGTGATCTCTGC GTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCT GCGTGGCACCCCACA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0039 a0002c0015t0001g0039	1	403	0.0025	214	c.164 others(231): Show c.1644+718_1644+719insCGTGATCTCTGCGTGGCACCCCACTGTC GTGATCTCTGCGTGGCACCCCACTGTCGTGATCTCTGCGTGGCCCCCCAC TGTTGTGATCTCTGTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCACC CCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGG CCCCACTGTCGTGATCTCTGCGTGGCACCCCACAGT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NAALADL2_chr3_174854334_175815548	175698059	A A	ATGTATGT others(207): Show ATGTATGTATACATATATATGTGTATATATGTATGTATACATATATATGT GTGTATATGTATGTATACATATATATGTGTGTATATGTATGTATACATAT ATATGTGTATATGTATGTATACATACATATGTGTATATATGTATGTATAC ATACATATGTGTATATATGTATGTATACATACATATGTGTATATATGTAT GTATACATACATATG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0025 a0006c0009t0025	a0006c0009t0025g0035 a0006c0009t0025g0035	1	64	0.0156	214	c.189 others(235): Show c.1897-39196_1897-39195insGTATATGTATGTATACATATATAT GTGTGTATATGTATGTATACATATATATGTGTATATGTATGTATACATAC ATATGTGTATATATGTATGTATACATACATATGTGTATATATGTATGTAT ACATACATATGTGTATATATGTATGTATACATACATATGTGTATGTATAC ATATATATGTGTATATATGTATGTATACATATATATGTGT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEU4_chr2_241804193_241822413	241805782	A A	ACCTTCCC others(207): Show ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCTCAGCCCA GGGACCTCTGCAGGCCACCCTCCCTCCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGG CCACCTTCCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	319	0.0031	214	c.-34 others(225): Show c.-3496_-3495insCCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCC CTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCTTCCCTCCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3410		chr2	TogoVar
NLRP8_chr19_55942832_55993629	55993551	C C	CCCCTCCC others(207): Show CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCTCCCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCGTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCCCTCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0012 a0007c0009t0012	a0007c0009t0012g0317 a0007c0009t0012g0317	1	350	0.0029	214	c.56 others(225): Show c.5638_*5639insCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCC CCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCCCTCCCCGTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4923		chr19	TogoVar
NOC4L_chr12_132139457_132157468	132149564	C C	CGCCTCAC others(207): Show CGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTA ATCCCCTCGGTGAGT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0195 a0001c0007t0001g0195	1	294	0.0034	214	c.901 others(229): Show c.901+672_901+673insTCACTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTG CGGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCAC TCACACCACACCCCTAATCCCCTCGGTGAGTGCC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NRROS_chr3_196634694_196667004	196634721	G G	GAGAAGTG others(207): Show GAGAAGTGGGGACTGGGAGAAGTGGGGGCTAGAGAAGTGGGGGCTGGGAG AAGTGGGGGCTAGAGAAGTGGGGGCTGGGAGAAGTGGGGTCTGGAGAAGT GGAGGCTGGAGAATTGGAGGCTGGAGAAGTTGGGGCTGGAGAAGTGGGGA CTGGGAGAAGTGGGGGCTAGAGAAGTGGGGACTGGGAGAAGTGGGGGCTA GAGAAGTGGGGGCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 NA19086.hp2 HG02145.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0186 a0001c0001t0001g0187	2	472	0.0042	214	c.-51 others(225): Show c.-5168_-5167insAGAAGTGGGGACTGGGAGAAGTGGGGGCTAGAGA AGTGGGGGCTGGGAGAAGTGGGGGCTAGAGAAGTGGGGGCTGGGAGAAGT GGGGTCTGGAGAAGTGGAGGCTGGAGAATTGGAGGCTGGAGAAGTTGGGG CTGGAGAAGTGGGGACTGGGAGAAGTGGGGGCTAGAGAAGTGGGGACTGG GAGAAGTGGGGGCTAGAGAAGTGGGGGCTA	NRROS	ENSG00000174004.6	transcript	ENST00000328557.5	protein_coding		4972		chr3	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCTCCCCA others(207): Show TCTCCCCAGAGTGGATTTCTCTTCTCTTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCC CTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0132 a0001c0001t0007g0132	1	326	0.0031	214	c.433 others(231): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAAGAGAAGAGAAATCCACTCTGGGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
OBI1_chr13_78609289_78664155	78659327	A A	AGAAAGAA others(207): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	296	0.0034	214	c.-20 others(223): Show c.-208_-207insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		173		chr13	TogoVar
OPRM1_chr6_154034240_154137356	154100133	T T	TATATCAT others(207): Show TATATCATAATATATATTATATTATGACATATCATAATATATATTATCAT ATTATGACATATCATAATATATATTATCATATTATGACATATCATAATAT ATATTATCATATTATGACATATCATAATATATATTATCATATTATGACAT ATCATAATATATATTATCATATTATGACATATCATAATATATATTATCAT ATTATGACATATATC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02896.hp2 others(1): Show HG01884.hp2 HG02258.hp2 HG02896.hp2 HG02897.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0021 a0003c0003t0110 a0003c0003t0117 a0001c0001t0021 a0003c0003t0110 a0003c0003t0117	a0001c0001t0021g0005 a0003c0003t0110g0017 a0003c0003t0117g0176 a0001c0001t0021g0005 a0003c0003t0110g0017 a0003c0003t0117g0176	4	268	0.0149	214	c.116 others(233): Show c.1164+8664_1164+8665insTCATAATATATATTATATTATGACAT ATCATAATATATATTATCATATTATGACATATCATAATATATATTATCAT ATTATGACATATCATAATATATATTATCATATTATGACATATCATAATAT ATATTATCATATTATGACATATCATAATATATATTATCATATTATGACAT ATCATAATATATATTATCATATTATGACATATATCATA	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OPTN_chr10_13095163_13143308	13115253	T T	TTATATCT others(207): Show TTATATCTATATTTATATCTATATTTATATATATTTATAAATATAGATAT ATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATATAT ATTTATAAATATAGATATATCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTACATATATATATAAATATAGATATATCTATATATATAT ATTTATAAATATAGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	418	0.0024	214	c.553 others(229): Show c.553-997_553-996insCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATATATATTTATAAATATAGATATATCTATATTTATAT ATATTTATAAATATAGATATATCTATATTTATATATATTTATAAATATAG ATATATCTATATTTACATATATATATAAATATAGATATATCTATATATAT ATATTTATAAATATAGATATATCTATATTTATAT	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OR10G3_chr14_21563520_21585076	21564215	C C	CCGCAGAA others(207): Show CCGCAGAACTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTT AGTAGAGACGGGGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02135.hp1 homoSapiens_chm13v2.hp1 HG02132.hp2 HG02135.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0005 a0001c0005t0003 a0001c0005t0005	a0001c0005t0003g0165 a0001c0005t0005g0037 a0001c0005t0005g0068 a0001c0005t0003g0165 a0001c0005t0005g0037 a0001c0005t0005g0068	3	442	0.0068	214	c.55 others(225): Show c.5587_*5588insAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAGAGTTCTGCG	OR10G3	ENSG00000169208.3	transcript	ENST00000641040.1	protein_coding		4304		chr14	TogoVar
OR1S2_chr11_58198204_58209142	58199861	T T	TGAAAATG others(207): Show TGAAAATGGCAAATTGTTAAAAAATCAAATGATTTTTTAACAAGTGCAGA AACAAAAAGATACTGGTTGCATTGTAACTCATGCAACATCCTTTTTTTTA GAAAAGAAAAACACAGATTTGGCCTTCGCACATTTTTTGCAAAGAACAGA AGGTATTTTTTTCTGTAGTGTGATCACAATGAAAACTTTATTGTCAAAAA AAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	2	426	0.0047	214	c.33 others(225): Show c.3342_*3343insTTTTTTTTTTTTTTTTTTTTGACAATAAAGTTTT CATTGTGATCACACTACAGAAAAAAATACCTTCTGTTCTTTGCAAAAAAT GTGCGAAGGCCAAATCTGTGTTTTTCTTTTCTAAAAAAAAGGATGTTGCA TGAGTTACAATGCAACCAGTATCTTTTTGTTTCTGCACTTGTTAAAAAAT CATTTGATTTTTTAACAATTTGCCATTTTC	OR1S2	ENSG00000197887.6	transcript	ENST00000641683.2	protein_coding		3342		chr11	TogoVar
OSGIN1_chr16_83948240_83971332	83950480	C C	CATGCACA others(207): Show CATGCACACATGAGCACATGTGCAGACATGCACATACATACTGGCACACG TACACACACGCACACATGAGCACGTGCACACATGCACATACATACTGGCA CACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATACT GGCACACGTACACACACGCACACATGAGCACATGTGCACACATGCACATA CATACTGGCACACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0172 a0001c0002t0003g0172	1	350	0.0029	214	c.-29 others(225): Show c.-2923_-2922insATGCACACATGAGCACATGTGCAGACATGCACAT ACATACTGGCACACGTACACACACGCACACATGAGCACGTGCACACATGC ACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACGTACACACACGCACACATGAGCACATGT GCACACATGCACATACATACTGGCACACGT	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2759		chr16	TogoVar
P2RX5_chr17_3668227_3701155	3685648	G G	GCGTCCCC others(207): Show GCGTCCCCCGGCTCTCCCCCCCTCCCGCCCAGCCTCAGAACAGGAGAACG CACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAG CCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGT CCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCC CAGGGACCCTCCCAA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	362	0.0028	214	c.981 others(231): Show c.981+2363_981+2364insTTGGGAGGGTCCCTGGGGGCCCCGCTGT GCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGT CCCTGGGGGCCCAGCTGTGTGTTCTCCTGTTCTGAGGCTGGGCGGGGGGC GGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTC TGAGGCTGGGCGGGAGGGGGGGAGAGCCGGGGGACG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3685648	G G	GCGTCCCC others(207): Show GCGTCCCCCGGCTCTCCCCCCCTCCCGCCCAGCCTCAGAACAGGAGAACG CACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAG CCTGAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGT CCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCC CAGGGACCCTCCCAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	362	0.0028	214	c.981 others(231): Show c.981+2363_981+2364insTTGGGAGGGTCCCTGGGGGCCCCGCTGT GCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGT CCCTGGGGGCCCCGCTGTGTGTTCTCCTGTTCTCAGGCTGGGCGGGGGGC GGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTC TGAGGCTGGGCGGGAGGGGGGGAGAGCCGGGGGACG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3685648	G G	GCGTCCCC others(207): Show GCGTCCCCCGGCTCTCCCCCCCTCCCGCCCAGCCTCAGAACAGGAGAACG CACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAG CCTGAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGT CCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCC CAGGGACCCTCCCAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01993.hp1 HG02148.hp1 others(1): Show HG01934.hp2 HG01993.hp1 HG02148.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0266 a0001c0001t0002g0255 a0001c0001t0002g0271 others(1): Show a0001c0001t0001g0266 a0001c0001t0002g0255 a0001c0001t0002g0271 a0001c0001t0002g0272	4	362	0.0111	214	c.981 others(231): Show c.981+2363_981+2364insTTGGGAGGGTCCCTGGGGGCCCAGCTGT GCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGT CCCTGGGGGCCCCGCTGTGTGTTCTCCTGTTCTCAGGCTGGGCGGGGGGC GGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTC TGAGGCTGGGCGGGAGGGGGGGAGAGCCGGGGGACG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PABIR2_chrX_134764566_134802205	134788146	T T	TACGTTAT others(207): Show TACGTTATATATGTGTAATATATACACGTTATATGTGTAATATATACACG TTATATATGTGTAATATATACACGTTATATATGTGTAATATATACACGTT ATATATGTGTAATATATACACGTTATATATGTGTAATATATACACGTTAT ATATGTGTAATATATACACGTTATATATGTGTAATATATACACGTTATAT ATGTGTAATATATAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19240.hp1 HG03453.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0040 a0001c0001t0007g0039 a0001c0001t0001g0040 a0001c0001t0007g0039	2	217	0.0092	214	c.435 others(229): Show c.435+583_435+584insGTATATATTACACATATATAACGTGTATAT ATTACACATATATAACGTGTATATATTACACATATATAACGTGTATATAT TACACATATATAACGTGTATATATTACACATATATAACGTGTATATATTA CACATATATAACGTGTATATATTACACATATATAACGTGTATATATTACA CATATAACGTGTATATATTACACATATATAACGT	PABIR2	ENSG00000156504.17	transcript	ENST00000343004.10	protein_coding	6/9			chrX	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(207): Show TCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCTC CTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCCCTCCCCTCC CCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCC TCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCC CCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19030.hp2 HG03486.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0306 a0001c0001t0002g0188 a0001c0001t0002g0306	2	308	0.0065	214	c.226 others(233): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCTTCCTC CCCTCCCCCTCCTCTCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCC CCCTCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCAC TCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PASD1_chrX_151558675_151681739	151562909	G G	GGGGGGGC others(207): Show GGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAGCTGGGG CGGGGGGCGGGGGGGGGCGGGGGGGGGCGGGGGGGCGGGGGGGGGCGGGG GGGGCGGGGGGGCGGGGGGGCGGGGGGCGGGGGGGCGGGGGGGGGGCGGG GGGGCGGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGGCGGG GGGGGCGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0122 a0001c0002t0006g0122	1	221	0.0045	214	c.-95 others(223): Show c.-958_-957insGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGG GGGGCAGCTGGGGCGGGGGGCGGGGGGGGGCGGGGGGGGGCGGGGGGGCG GGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGCGGGGGGGCG GGGGGGGGGCGGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGG GCGGGGGGGCGGGGGGGGCGGGGGGGGC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		765		chrX	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(207): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCA CTTCCCCTCCCTCTCCCCTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCC CCACTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCC CCTCCCCACTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0001 a0002c0018t0001	a0002c0018t0001g0018 a0002c0018t0001g0018	1	336	0.0030	214	c.-37 others(225): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGA GGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAGG GGATGGGGGAGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGGGG GAGGGGGAGGGCAGGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGGAGGGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar

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