Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FAM171A1_chr10_15206643_15376289	15229771	CCATCATC others(143): Show CCATCATCACCATCACCACCATCACCATCATCACCATCACCACCACCATC ACCATCATCATCATCACCACCATCACCATCATCACCATCACCCCCATCAC CATCATCACCATCACCACCATCACCATCATCACCATCACCACCATCACCA A	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00558.hp1 others(61): Show HG00280.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01123.hp1 HG01167.hp2 HG01243.hp1 HG01256.hp1 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03704.hp2 HG04115.hp1 NA18945.hp2 NA18948.hp2 NA18952.hp2 NA18957.hp1 NA18962.hp1 NA18964.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18984.hp2 NA18994.hp1 NA19004.hp2 NA19010.hp2 NA19054.hp2 NA19062.hp1 NA19066.hp1 NA19080.hp2 NA19085.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0001t0019 a0001c0001t0028 a0001c0008t0003 a0001c0008t0027 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005	a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0001g0148 others(61): Show a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0001g0148 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0219 a0001c0001t0001g0238 a0001c0001t0002g0012 a0001c0001t0002g0019 a0001c0001t0002g0024 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0051 a0001c0001t0002g0061 a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0270 a0001c0001t0003g0281 a0001c0001t0003g0295 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0161 a0001c0001t0004g0242 a0001c0001t0005g0186 a0001c0001t0006g0249 a0001c0001t0006g0251 a0001c0001t0006g0274 a0001c0001t0007g0032 a0001c0001t0007g0042 a0001c0001t0015g0259 a0001c0001t0015g0282 a0001c0001t0019g0108 a0001c0001t0028g0290 a0001c0008t0003g0246 a0001c0008t0027g0260 a0002c0002t0001g0159 a0002c0002t0001g0193 a0002c0002t0001g0232 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0003g0287 a0002c0002t0003g0291 a0002c0002t0003g0296 a0002c0002t0005g0171	64	303	0.2112	-150	c.755 others(17): Show c.755-8861_755-8712del	FAM171A1	ENSG00000148468.17	transcript	ENST00000378116.9	protein_coding	5/7			chr10	TogoVar
FEZ1_chr11_125437881_125501265	125493340	AGAAAGAA others(143): Show AGAAAGAAAGAAAGAAAGAGAGAAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAGGAAAGA AGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAG G	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03491.hp2 HG02622.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0011 a0001c0001t0010 a0001c0001t0011	a0001c0001t0010g0005 a0001c0001t0011g0004 a0001c0001t0010g0005 a0001c0001t0011g0004	2	356	0.0056	-150	c.-46 others(17): Show c.-46+2631_-46+2780del	FEZ1	ENSG00000149557.14	transcript	ENST00000278919.8	protein_coding	1/9			chr11	TogoVar
FLT4_chr5_180596506_180654600	180617203	CCTCTGGG others(143): Show CCTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAG CCTCTGGGACACACACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAG ACTCTGGGACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAG A	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp1 HG02809.hp1 others(3): Show HG02257.hp2 HG02572.hp1 HG02809.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0047 a0002c0002 a0005c0015 others(1): Show a0001c0047 a0002c0002 a0005c0015 a0005c0018	a0001c0047t0001 a0002c0002t0013 a0005c0015t0011 others(1): Show a0001c0047t0001 a0002c0002t0013 a0005c0015t0011 a0005c0018t0013	a0001c0047t0001g0173 a0002c0002t0013g0165 a0005c0015t0011g0171 others(3): Show a0001c0047t0001g0173 a0002c0002t0013g0165 a0005c0015t0011g0171 a0005c0015t0011g0172 a0005c0015t0011g0288 a0005c0018t0013g0167	6	388	0.0155	-150	c.300 others(17): Show c.3002-359_3002-210del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	21/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180617610	GACACCCA others(143): Show GACACCCACGTCCTATTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGG GACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGG GACACCCACGTCCTACTCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGG T	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0315 a0002c0003t0007g0315	1	388	0.0026	-150	c.300 others(17): Show c.3002-766_3002-617del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	21/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180618029	CCAGAGCA others(143): Show CCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACGTCCTACT CCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTAT TCCAGAGCACCCTCTCCTGCCCCTCAGCCTCTGGGACACCCACATCCTAT T	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0023 a0002c0012t0023	a0002c0012t0023g0045 a0002c0012t0023g0045	1	388	0.0026	-150	c.300 others(17): Show c.3001+591_3001+740del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	21/29			chr5	TogoVar
FMNL2_chr2_152330174_152654826	152357318	CACGATAA others(143): Show CACGATAAATATTAAATCAGTTTAATGTATCACGATAAATATTAAATCAG TTTAATGTATAACGATAAATATTAAATCAGTTTAATGTATAACGATAAAT ATTAAATCAGTTTAATGTATAACGATAAATATTAAATCAGTTTAATGTAT A	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02738.hp2 HG03834.hp1 others(1): Show HG01981.hp1 HG02738.hp2 HG03834.hp1 NA18969.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0009 a0001c0001 a0001c0005 a0002c0009	a0001c0001t0001 a0001c0001t0016 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0016 a0001c0005t0001 a0002c0009t0003	a0001c0001t0001g0043 a0001c0001t0016g0171 a0001c0005t0001g0062 others(1): Show a0001c0001t0001g0043 a0001c0001t0016g0171 a0001c0005t0001g0062 a0002c0009t0003g0044	4	200	0.0200	-150	c.117 others(19): Show c.117+21628_117+21777del	FMNL2	ENSG00000157827.20	transcript	ENST00000288670.14	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
FMNL2_chr2_152330174_152654826	152357348	CACGATAA others(143): Show CACGATAAATATTAAATCAGTTTAATGTATAACGATAAATATTAAATCAG TTTAATGTATAACGATAAATATTAAATCAGTTTAATGTATAACGATAAAT ATTAAATCAGTTTAATGTATAACGATAAATATTAAATCAGTTTAATGTAT A	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02630.hp2 others(4): Show HG02109.hp1 HG02280.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp2 HG02965.hp1 NA19240.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0001c0005 a0001c0017 others(2): Show a0001c0003 a0001c0005 a0001c0017 a0003c0011 a0004c0008	a0001c0003t0002 a0001c0005t0001 a0001c0017t0007 others(2): Show a0001c0003t0002 a0001c0005t0001 a0001c0017t0007 a0003c0011t0002 a0004c0008t0002	a0001c0003t0002g0110 a0001c0005t0001g0118 a0001c0005t0001g0119 others(4): Show a0001c0003t0002g0110 a0001c0005t0001g0118 a0001c0005t0001g0119 a0001c0005t0001g0122 a0001c0017t0007g0123 a0003c0011t0002g0190 a0004c0008t0002g0100	7	200	0.0350	-150	c.117 others(19): Show c.117+21811_117+21960del	FMNL2	ENSG00000157827.20	transcript	ENST00000288670.14	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
FOXN3_chr14_89151177_89422233	89361054	GCACTACC others(143): Show GCACTACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCACC ACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCAC CTCCAGCACTACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCA C	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0155 a0001c0001t0090g0155	1	230	0.0044	-150	c.544 others(19): Show c.544-10396_544-10247del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361600	ACTACCTC others(143): Show ACTACCTCCACCACCACCACCTCCACCACCACCTCCACCACCACCTCCAC CACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCACCTCCA CCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCACCACCACC T	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	230	0.0044	-150	c.544 others(19): Show c.544-10942_544-10793del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361917	CACCACCA others(143): Show CACCACCACCTCCAGCACCACCTCCACCACTACCACCTCCAGCACCACCT CCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACC TCCACCACTACCACCTCCAGCACCACCACCTCCACCACCACCTCCACCAC T	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0184 a0001c0001t0040g0184	1	230	0.0044	-150	c.544 others(19): Show c.544-11259_544-11110del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361944	CACTACCA others(143): Show CACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCT CCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACC ACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCAC T	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	230	0.0044	-150	c.544 others(19): Show c.544-11286_544-11137del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362305	ACCACCTC others(143): Show ACCACCTCCAGCACCACCTCTACCACCACCACCTCCAGCACCACCACCAC CTCCTCCTCCTCCTCCACCACCACCTCCACCACCACCACCTCCAGCACCA CCACCACCTCCTCCTCCTCCACCACCACCACCACCACCTCCAGCACCAGC T	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0129 a0001c0001t0091g0129	1	230	0.0044	-150	c.544 others(19): Show c.544-11647_544-11498del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FTCD_chr21_46131779_46160579	46134479	CAGGTTTA others(143): Show CAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCA GGTTTAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGG GTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGT G	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0171 a0001c0001t0006g0171	1	230	0.0044	-150	c.23 others(11): Show c.2358_*2507del	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2299		chr21	TogoVar
GAA_chr17_80096581_80124881	80120326	CTCCCCTC others(143): Show CTCCCCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTTCCCATGTCA CCTCCCTTCCCCTCCCCACCTCCCCTCCCCTCCACTCCTCACCTACCCTC CCCATGTCACCTCCCCTTCCCTCCCCACCTCCCCTCCCACCCCACCTCCC T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0004 a0006c0009t0004	a0006c0009t0004g0082 a0006c0009t0004g0082	1	416	0.0024	-150	c.99 others(10): Show c.996_*1145del	GAA	ENSG00000171298.14	transcript	ENST00000302262.8	protein_coding		446		chr17	TogoVar
GAL3ST2_chr2_241771822_241809287	241806196	CCCCTCAG others(143): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCC T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0143 a0002c0002t0002g0143	1	314	0.0032	-150	c.20 others(11): Show c.2031_*2180del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1910		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132300162	GAGATAAC others(143): Show GAGATAACTCACTCCCATAACTAACCTGCTCCCACCACACCTAACTCATC CCTGAGATAACCAAGCCACTGCTGAGATAACCCACTCCCATGATAACTAA CCCACTCCCACCACACCTAACCCACCCCTGAGATGACCAAGCCACTCCTG A	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02976.hp1 HG01167.hp1 HG02976.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0074 a0001c0014t0003g0153 a0001c0014t0003g0074 a0001c0014t0003g0153	2	183	0.0109	-150	c.239 others(19): Show c.239-13882_239-13733del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALP_chr19_56171008_56190775	56176108	CCGGGGTG others(143): Show CCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGTCGGCTGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCA GCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCA G	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18612.hp2 NA18981.hp1 others(1): Show HG02040.hp1 NA18612.hp2 NA18981.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0287 others(1): Show a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0002t0001g0285	4	444	0.0090	-150	c.-40 others(14): Show c.-40+75_-40+224del	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176258	GCGGGGTG others(143): Show GCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA CCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA CCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCA C	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	444	0.0023	-150	c.-40 others(15): Show c.-40+236_-40+385del	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALP_chr19_56171008_56190775	56176500	CAGCTGCA others(143): Show CAGCTGCACGGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGC CAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGTGGATGC CAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGTGGATCC A	C C	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	444	0.0023	-150	c.-40 others(15): Show c.-40+447_-39-412del	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GAS6_chr13_113815549_113869076	113830487	GTGGCTCC others(143): Show GTGGCTCCATCCCCTGCAACACCACTCCCCCAGGTGACCTCGCCTCAGGC CACCTGCCCCGGGCCCCTCCTCCCCGTGGCTCCATCCCCTGCAACACCGC TCCCCCAGGTGACCTCGCCTCAGGCCACCTGCCCCGGGCCCCTCCTCCCC A	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02738.hp2 HG02809.hp2 others(7): Show HG01891.hp2 HG02738.hp2 HG02809.hp2 HG03225.hp2 HG04228.hp2 NA18747.hp1 NA18990.hp2 NA19088.hp2 NA21309.hp1 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0007c0014 a0001c0002 a0007c0014	a0001c0002t0001 a0007c0014t0003 a0001c0002t0001 a0007c0014t0003	a0001c0002t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0018 others(7): Show a0001c0002t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0038 a0001c0002t0001g0070 a0001c0002t0001g0086 a0001c0002t0001g0116 a0001c0002t0001g0120 a0001c0002t0001g0138 a0007c0014t0003g0002	10	143	0.0699	-150	c.114 others(19): Show c.1143+1662_1144-1777del	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	10/14			chr13	TogoVar
GCNT3_chr15_59606783_59627723	59611025	TCCCCTCC others(143): Show TCCCCTCCCCCTCCCCCTCCCCTCACCCTCCCCCTCCCCTCGCCCTCCCC CTCCCCTCGCCCTCCCCCTCCCCTTCTCCTCCCCCTCCCCTTCTCCTCCC CCTCCCCTTCTCCTCCCCCTCCCCTTCTCCTCCCCCTCCCCTTCTCCTCC C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0002 a0001c0002t0033g0002	1	428	0.0023	-150	c.-12 others(11): Show c.-1206_-1057del	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		757		chr15	TogoVar
GET4_chr7_871554_901436	876314	CCACGTGT others(143): Show CCACGTGTTGCCTGCGGACCCGCCTCTGGGTCACGTGTTGCCTGCGGACC CGCCTCTGGGTCACGTGTTGCCTGCGGGCCCGCCCCTGGGTCACGTGTTG CCTGCGGACCCGCCCCTGGGTCACGTGTTGCCTGCGGACCCGCCCCTGGG T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02559.hp1 HG02965.hp2 others(10): Show HG02257.hp2 HG02559.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG06807.hp2 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0027 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0027 a0001c0004t0002 a0001c0004t0004	a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0004g0253 others(9): Show a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0004g0253 a0001c0001t0027g0263 a0001c0004t0002g0040 a0001c0004t0002g0255 a0001c0004t0002g0256 a0001c0004t0002g0257 a0001c0004t0002g0262 a0001c0004t0004g0254 a0001c0004t0004g0259 a0001c0004t0004g0260	13	384	0.0339	-150	c.-33 others(9): Show c.-331_-182del	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding		239		chr7	TogoVar
GNG12_chr1_67696475_67838467	67709964	ATATATAT others(143): Show ATATATATAGTTATATATATATAGTTATATATATAGTTATATATATAGTT ATATATATAGTTATATATATATAGTTATATATATAGTTATATATATATAG TTATATATATAGTTATATATATATAGTTATATATATAGTTATATATATAG T	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	274	0.0037	-150	c.-26 others(17): Show c.-26-2402_-26-2253del	GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3			chr1	TogoVar
GRTP1_chr13_113319163_113369130	113346466	AGACCCGG others(143): Show AGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGT GGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCAGGA GGACCTCTGTGGCCGAGAACAGACCCGGGAGGACCTCTGTGCCTGACAGT G	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	288	0.0035	-150	c.466 others(17): Show c.466-1657_466-1508del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347333	CGGGAGGA others(143): Show CGGGAGGACCTCTGTGGCCAAGAACAGATCCGGGAGGACCTCTGAAGCCG AGAGCAGACCCGGGAGGACCTCTGTGGCTGACAGTGGACCCGGGAGGACC TCTGTGGCTGAGAGCAGACCCAGGAGGATCTCTGTGGCCGAGAGCAGACC T	C C	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	288	0.0035	-150	c.466 others(17): Show c.466-2524_466-2375del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GUCY1B1_chr4_155754021_155812811	155788429	CTCTCTGT others(143): Show CTCTCTGTCACCATGTAGCAGGGAAAGCTTCTTGACTTTTAAGTGCACAG TCACCCATGTGACTAGGTTGGGCTCACCTGGATAATCCAGGATAATCTTC CCAACTCAAGGTCCATAACCCTCATCACATCTGCAAAATCCCTTTCACCA T	C C	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	364	0.0028	-150	c.298 others(17): Show c.298-1284_298-1135del	GUCY1B1	ENSG00000061918.14	transcript	ENST00000264424.13	protein_coding	4/13			chr4	TogoVar
GYG2_chrX_2823930_2887818	2844608	GCGTATAT others(143): Show GCGTATATGTGTATACGCACACGCATGCGTATATGTGTATACGCACACGC ATGCGTATATGTGTATACGCACACGCATGCGTATATGTGTATACGCACAC GCATGCGTATATGTGTATACGCACACGCATGCGTATATGTGTATACGCAC A	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03516.hp2 HG02976.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0033 a0002c0002t0003g0034	2	316	0.0063	-150	c.149 others(17): Show c.149+1260_149+1409del	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
HDAC9_chr7_18490749_19007416	18786647	CTCCTTCT others(143): Show CTCCTTCTTTCCTCCCTTCCTCCCTTCCTTCCTTTTTGCTCACATATCCC TTTCTGTGTCCTCGGTTTCTGTTGCATGCGCCTCTTGAGTCTAGCTTTCT TTCCTTCCTTTTCTTTTTTCTCTCTTTCTTTCTTTTCTTTCTTTCTTTCT T	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0138 a0001c0002t0006g0138	1	156	0.0064	-150	c.221 others(19): Show c.2215-6691_2215-6542del	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
IQSEC3_chr12_61767_183455	177126	CCAGGCAG others(143): Show CCAGGCAGGACCCCGTCCCCTGCTCACACAGCTCTTCAAACTTACCAAGG ACAGGCAGGACCCCGTCCCCTGCTCACACAGCTCTTCAAGCTTACCAAGG ACAGGCAGAACCCCGTCCCCTGCTCACACAGCTCTTCAAGCTTACCAAGG A	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0055 a0001c0002t0055	a0001c0002t0055g0256 a0001c0002t0055g0256	1	282	0.0036	-150	c.21 others(11): Show c.2142_*2291del	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	14/14	2142	INFO_REALIGN_3_PRIME	chr12	TogoVar
KCNMB2_chr3_178531436_178849429	178759910	ATATATAT others(143): Show ATATATATATATCCAAGAGGATATATCTATATATATATATATCCAAGAGG ATATATATATATATATATATATCCAAGAGGATATATATATATATATATAT CCAAGAGGATATATCTATATATATATATATATATATCCAAGAGGATATAT C	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	232	0.0043	-150	c.-67 others(19): Show c.-67-47421_-67-47272del	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KLHL17_chr1_955584_970719	964624	GGGGGCGC others(143): Show GGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGT CCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGA TGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGG A	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02647.hp1 NA18963.hp2 HG01433.hp1 HG02647.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0005 a0001c0005t0005 a0001c0001t0005 a0001c0005t0005	a0001c0001t0005g0024 a0001c0005t0005g0024 a0001c0001t0005g0024 a0001c0005t0005g0024	3	432	0.0069	-150	c.170 others(16): Show c.1700+99_1701-185del	KLHL17	ENSG00000187961.15	transcript	ENST00000338591.8	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
LDHAL6A_chr11_18450856_18484601	18467899	ATATATAT others(143): Show ATATATATATATATATATATACACACACATATATATATACACACACATAT ATATATACGTATATATATACGTATATATATACGTATATATATGCATATAT ATACGTATATATATACATATATATACGTATATATATATACATATATATAC G	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp1 HG00738.hp2 others(29): Show HG00544.hp1 HG00673.hp1 HG00738.hp2 HG01515.hp1 HG01517.hp1 HG02083.hp1 HG02602.hp1 HG02683.hp1 HG03239.hp1 HG03688.hp2 HG03942.hp2 HG04228.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18956.hp1 NA18961.hp1 NA18969.hp2 NA18979.hp1 NA18980.hp1 NA18984.hp2 NA18985.hp1 NA18988.hp2 NA18993.hp1 NA18995.hp1 NA19010.hp1 NA19055.hp1 NA19066.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0020	a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0016 others(21): Show a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0127 a0001c0001t0002g0137 a0001c0001t0002g0144 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0163 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0238 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0009g0007 a0001c0001t0009g0178 a0001c0001t0010g0009 a0001c0001t0010g0154 a0001c0001t0010g0186 a0001c0001t0020g0273	32	420	0.0762	-150	c.418 others(17): Show c.418+2102_418+2251del	LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
LINS1_chr15_100561924_100607184	100582544	GTCTACAC others(143): Show GTCTACACTATGGCCCACTAGCCTAGTCTTGGTCTTATACTGGGTCTTCC ATCTACAACATGGCCCACTAGCCTAGTCTTGGTCTTACACTGGGTCTTCC ATCTACACTATGGCCCACTAGCCTAGTCTTGGTCTTATACTGGGTCTTCC A	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0010 a0006c0007t0010	a0006c0007t0010g0079 a0006c0007t0010g0079	1	430	0.0023	-150	c.-10 others(19): Show c.-103-1749_-103-1600del	LINS1	ENSG00000140471.17	transcript	ENST00000314742.13	protein_coding	1/6			chr15	TogoVar
LIPG_chr18_49557057_49604185	49579001	GGGGAGAG others(143): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG A	G G	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0205 a0001c0001t0027g0205	1	384	0.0026	-150	c.794 others(17): Show c.794-2326_794-2177del	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LMF1_chr16_848634_975984	961866	CACAGACT others(143): Show CACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGG GATCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACCACCCA G	C C	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	294	0.0034	-150	c.194 others(17): Show c.194-7350_194-7201del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89421120	CTGAGACA others(143): Show CTGAGACACGAAGGGTCAGTGTGTGATGACGGAGTCAGGGATGGGACCAT CACCCGTCCATGTCTGGGGGTGGGGGTGAGACACGAAGGGTCGGTGTGTG ATGACGGAGTCAGGGATGGGACCATCACCCGTCCATGTCTGGGGGTGGGG G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0063 a0001c0001t0000g0063	1	366	0.0027	-150	c.-29 others(11): Show c.-2978_-2829del	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding		2829		chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89421137	AGTGTGTG others(143): Show AGTGTGTGATGACGGAGTCAGGGATGGGACCATCACCCGTCCATGTCTGG GGGTGGGGGTGAGACACGAAGGGTCGGTGTGTGATGACGGAGTCAGGGAT GGGACCATCACCCGTCCATGTCTGGGGGTGGGGGTGAGACACGAAGGGTC G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03453.hp2 NA19005.hp2 others(1): Show HG03041.hp1 HG03453.hp2 NA19005.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0002 a0001c0001t0000g0020 a0001c0001t0000g0021 others(1): Show a0001c0001t0000g0002 a0001c0001t0000g0020 a0001c0001t0000g0021 a0001c0001t0000g0022	4	366	0.0109	-150	c.-29 others(11): Show c.-2995_-2846del	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding		2846		chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89421265	TGGGGGTG others(143): Show TGGGGGTGAGACACGAAGGGTCGGTGTGTGATGACGGAGTCAGGGATGGG ACCATCACCCGTCCATGTCTGGGGGTGGGGGTGAGACACGAAGGGTCGGT GTGTGATGACGGAGTCAGGGATGGGACCATCACCCGTCCATGTCTGGGGG C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00423.hp2 others(152): Show HG00099.hp1 HG00140.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18952.hp1 NA18959.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19062.hp2 NA19063.hp1 NA19066.hp2 NA19067.hp2 NA19076.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0005 a0001c0001t0000g0007 a0001c0001t0000g0008 others(152): Show a0001c0001t0000g0005 a0001c0001t0000g0007 a0001c0001t0000g0008 a0001c0001t0000g0013 a0001c0001t0000g0014 a0001c0001t0000g0015 a0001c0001t0000g0016 a0001c0001t0000g0017 a0001c0001t0000g0018 a0001c0001t0000g0019 a0001c0001t0000g0023 a0001c0001t0000g0024 a0001c0001t0000g0025 a0001c0001t0000g0026 a0001c0001t0000g0027 a0001c0001t0000g0028 a0001c0001t0000g0030 a0001c0001t0000g0033 a0001c0001t0000g0034 a0001c0001t0000g0035 a0001c0001t0000g0036 a0001c0001t0000g0038 a0001c0001t0000g0039 a0001c0001t0000g0041 a0001c0001t0000g0042 a0001c0001t0000g0043 a0001c0001t0000g0044 a0001c0001t0000g0045 a0001c0001t0000g0046 a0001c0001t0000g0047 a0001c0001t0000g0049 a0001c0001t0000g0050 a0001c0001t0000g0051 a0001c0001t0000g0052 a0001c0001t0000g0053 a0001c0001t0000g0054 a0001c0001t0000g0055 a0001c0001t0000g0056 a0001c0001t0000g0058 a0001c0001t0000g0059 a0001c0001t0000g0064 a0001c0001t0000g0065 a0001c0001t0000g0066 a0001c0001t0000g0067 a0001c0001t0000g0071 a0001c0001t0000g0079 a0001c0001t0000g0080 a0001c0001t0000g0081 a0001c0001t0000g0082 a0001c0001t0000g0084 a0001c0001t0000g0090 a0001c0001t0000g0095 a0001c0001t0000g0096 a0001c0001t0000g0097 a0001c0001t0000g0098 a0001c0001t0000g0099 a0001c0001t0000g0100 a0001c0001t0000g0101 a0001c0001t0000g0106 a0001c0001t0000g0108 a0001c0001t0000g0109 a0001c0001t0000g0110 a0001c0001t0000g0116 a0001c0001t0000g0120 a0001c0001t0000g0121 a0001c0001t0000g0122 a0001c0001t0000g0123 a0001c0001t0000g0124 a0001c0001t0000g0125 a0001c0001t0000g0126 a0001c0001t0000g0127 a0001c0001t0000g0128 a0001c0001t0000g0130 a0001c0001t0000g0131 a0001c0001t0000g0132 a0001c0001t0000g0133 a0001c0001t0000g0134 a0001c0001t0000g0135 a0001c0001t0000g0136 a0001c0001t0000g0138 a0001c0001t0000g0141 a0001c0001t0000g0142 a0001c0001t0000g0144 a0001c0001t0000g0146 a0001c0001t0000g0147 a0001c0001t0000g0148 a0001c0001t0000g0149 a0001c0001t0000g0150 a0001c0001t0000g0151 a0001c0001t0000g0152 a0001c0001t0000g0153 a0001c0001t0000g0154 a0001c0001t0000g0155 a0001c0001t0000g0156 a0001c0001t0000g0157 a0001c0001t0000g0158 a0001c0001t0000g0159 a0001c0001t0000g0161 a0001c0001t0000g0162 a0001c0001t0000g0163 a0001c0001t0000g0164 a0001c0001t0000g0166 a0001c0001t0000g0168 a0001c0001t0000g0169 a0001c0001t0000g0170 a0001c0001t0000g0171 a0001c0001t0000g0172 a0001c0001t0000g0173 a0001c0001t0000g0174 a0001c0001t0000g0175 a0001c0001t0000g0176 a0001c0001t0000g0177 a0001c0001t0000g0178 a0001c0001t0000g0179 a0001c0001t0000g0180 a0001c0001t0000g0181 a0001c0001t0000g0183 a0001c0001t0000g0184 a0001c0001t0000g0185 a0001c0001t0000g0186 a0001c0001t0000g0187 a0001c0001t0000g0188 a0001c0001t0000g0189 a0001c0001t0000g0190 a0001c0001t0000g0191 a0001c0001t0000g0192 a0001c0001t0000g0193 a0001c0001t0000g0194 a0001c0001t0000g0195 a0001c0001t0000g0196 a0001c0001t0000g0198 a0001c0001t0000g0199 a0001c0001t0000g0200 a0001c0001t0000g0201 a0001c0001t0000g0202 a0001c0001t0000g0203 a0001c0001t0000g0204 a0001c0001t0000g0205 a0001c0001t0000g0206 a0001c0001t0000g0207 a0001c0001t0000g0208 a0001c0001t0000g0209 a0001c0001t0000g0210 a0001c0001t0000g0212 a0001c0001t0000g0213 a0001c0001t0000g0214 a0001c0001t0000g0216 a0001c0001t0000g0217 a0001c0001t0000g0219 a0001c0001t0000g0221 a0001c0001t0000g0222 a0001c0001t0000g0223 a0001c0001t0000g0224 a0001c0001t0000g0337 a0001c0001t0000g0342	155	366	0.4235	-150	c.-31 others(11): Show c.-3123_-2974del	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding		2974		chr16	TogoVar
LRRC47_chr1_3773559_3801498	3800438	CGCCTGGG others(143): Show CGCCTGGGTCTCTGTGCCATCTCGACCTAACGCAGGTCGCTCTGTGGTGC CGCCTGGGTCTCTGTGCCATCTGGACCTAACACAGGTCACTCTGTGGTGC CGCCTGGGTCTCTGTGCCATCTGGACCTAACGCAGGTCACTCTGTGGTGC T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(79): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02074.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18943.hp2 NA19043.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0003c0015 a0004c0012	a0001c0001t0003 a0001c0001t0009 a0001c0001t0014 others(12): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0023 a0001c0001t0028 a0001c0001t0031 a0001c0003t0005 a0001c0003t0011 a0001c0004t0007 a0001c0004t0017 a0001c0007t0003 a0003c0015t0009 a0004c0012t0007	a0001c0001t0003g0018 a0001c0001t0003g0048 a0001c0001t0003g0049 others(50): Show a0001c0001t0003g0018 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0149 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0170 a0001c0001t0003g0178 a0001c0001t0003g0180 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0009g0169 a0001c0001t0009g0175 a0001c0001t0009g0179 a0001c0001t0014g0182 a0001c0001t0015g0047 a0001c0001t0018g0042 a0001c0001t0023g0150 a0001c0001t0028g0142 a0001c0001t0031g0152 a0001c0003t0005g0013 a0001c0003t0005g0025 a0001c0003t0005g0026 a0001c0003t0005g0043 a0001c0003t0005g0046 a0001c0003t0005g0059 a0001c0003t0005g0143 a0001c0003t0005g0145 a0001c0003t0005g0146 a0001c0003t0005g0147 a0001c0003t0005g0162 a0001c0003t0005g0163 a0001c0003t0005g0164 a0001c0003t0011g0144 a0001c0003t0011g0148 a0001c0003t0011g0154 a0001c0004t0007g0009 a0001c0004t0007g0051 a0001c0004t0007g0053 a0001c0004t0007g0054 a0001c0004t0007g0172 a0001c0004t0007g0173 a0001c0004t0007g0174 a0001c0004t0007g0177 a0001c0004t0007g0181 a0001c0004t0017g0052 a0001c0007t0003g0045 a0001c0007t0003g0168 a0003c0015t0009g0165 a0004c0012t0007g0171	82	412	0.1990	-150	c.-41 others(11): Show c.-4112_-3963del	LRRC47	ENSG00000130764.10	transcript	ENST00000378251.3	protein_coding		3941		chr1	TogoVar
LSP1_chr11_1848084_1897263	1875060	CCTGGGTC others(143): Show CCTGGGTCCCAGCTCGGCCATGGGGGCTTCGGCATGTAAAGCCCATGGGG GGCAGAGCCTCCGGCCCCTGCCAGCTTCTGGCTGTCTGTGTCGCCCCCAG CACTGGGCTGGTGCCGTGGAGGGAGGCTCCGCCCTCCCCCCCATCAACCC G	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp2 HG03130.hp2 others(1): Show HG02451.hp2 HG02886.hp2 HG03130.hp2 HG03540.hp2	a0003 a0006 a0003 a0006	a0003c0004 a0006c0014 a0003c0004 a0006c0014	a0003c0004t0001 a0003c0004t0003 a0006c0014t0003 a0003c0004t0001 a0003c0004t0003 a0006c0014t0003	a0003c0004t0001g0195 a0003c0004t0003g0187 a0003c0004t0003g0196 others(1): Show a0003c0004t0001g0195 a0003c0004t0003g0187 a0003c0004t0003g0196 a0006c0014t0003g0199	4	360	0.0111	-150	c.54- others(15): Show c.54-5023_54-4874del	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
LY6E_chr8_143013529_143027409	143014684	TGTGTGAG others(143): Show TGTGTGAGGAGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTCCCGTGTGAG GAGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTGCTGTGTGAGGAGGAGGA GGGAGTCCTGTGTGAGGAGGAGGGAGTGCCGTGTGAGGAGGAGGGAGTCC C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	377	0.0027	-150	c.-39 others(11): Show c.-3959_-3810del	LY6E	ENSG00000160932.11	transcript	ENST00000292494.11	protein_coding		3844		chr8	TogoVar
LY6E_chr8_143013529_143027409	143015570	GGAGGAGG others(143): Show GGAGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTCCTGTGTGAGGAGGAGG GAGTCCCGTGTGAGGAGGAGGAGGGAGTCCTGTGTGAGGAGGAAGGAGTC CCATGTGAGGAGGAGGAGGGAGTCCTGTGTGAGGAGGAGGGAGTGCTGTG T	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02015.hp1 others(15): Show HG01884.hp2 HG01891.hp2 HG02015.hp1 HG02083.hp2 HG02145.hp1 HG02257.hp1 HG02622.hp1 HG02717.hp1 HG02735.hp2 HG02965.hp1 HG02976.hp2 HG03139.hp2 HG03453.hp1 HG03579.hp2 HG03688.hp1 HG03927.hp2 HG04199.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0032 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0032 a0001c0001t0001g0035	18	377	0.0478	-150	c.-30 others(11): Show c.-3073_-2924del	LY6E	ENSG00000160932.11	transcript	ENST00000292494.11	protein_coding		2958		chr8	TogoVar
MAP2K5_chr15_67537703_67812114	67609495	ATAGATTC others(143): Show ATAGATTCTGTAGACCTATTCTATAGGTCTGTAGATTCTGTAGACCTATT CTATAGGTCTGTAGATTCTGTAGACCTATTCTATAGGTCTGTAGATTCTG TAGACCTATTCTATAGGTCTGTAGATTCTGTAGACCTATTCTATAGGTCT G	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01123.hp1 HG01891.hp1 others(2): Show HG00597.hp1 HG01123.hp1 HG01891.hp1 NA18967.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0005 others(2): Show a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0005 a0001c0001t0003g0017 a0001c0001t0004g0231	5	278	0.0180	-150	c.545 others(17): Show c.545+8806_545+8955del	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
MEGF6_chr1_3482951_3616508	3583612	GCAGCCAC others(143): Show GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACA ACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCACAGCCACCA GACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCC A	G G	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02273.hp1 HG02622.hp2 others(9): Show HG01952.hp1 HG02273.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02896.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 NA21309.hp1	a0001 a0003 a0008 others(6): Show a0001 a0003 a0008 a0013 a0027 a0028 a0039 a0064 a0085	a0001c0001 a0001c0007 a0003c0003 others(7): Show a0001c0001 a0001c0007 a0003c0003 a0008c0040 a0013c0020 a0027c0036 a0028c0039 a0039c0056 a0064c0113 a0085c0055	a0001c0001t0001 a0001c0007t0010 a0003c0003t0001 others(8): Show a0001c0001t0001 a0001c0007t0010 a0003c0003t0001 a0008c0040t0011 a0008c0040t0059 a0013c0020t0028 a0027c0036t0027 a0028c0039t0031 a0039c0056t0062 a0064c0113t0056 a0085c0055t0005	a0001c0001t0001g0183 a0001c0007t0010g0203 a0003c0003t0001g0107 others(9): Show a0001c0001t0001g0183 a0001c0007t0010g0203 a0003c0003t0001g0107 a0008c0040t0011g0206 a0008c0040t0059g0277 a0013c0020t0028g0019 a0013c0020t0028g0205 a0027c0036t0027g0204 a0028c0039t0031g0286 a0039c0056t0062g0268 a0064c0113t0056g0279 a0085c0055t0005g0239	12	292	0.0411	-150	c.377 others(17): Show c.377-3833_377-3684del	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MPPED1_chr22_43407014_43512848	43496190	GAGGTAGT others(143): Show GAGGTAGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGT GGTGGTGGAGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGG AGGTGGTGGTGGAGGTAGTGGTGGCGGAGATGGTGGTGATGGAGGTGGTG A	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	250	0.0040	-150	c.633 others(17): Show c.633-2044_633-1895del	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496699	GGTGGTGG others(143): Show GGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGAAGTGGTGGTGGTGGAGG TAGTGGTGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTG GCGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT A	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02630.hp2 HG04184.hp2 others(3): Show HG01243.hp2 HG02630.hp2 HG04184.hp2 NA18945.hp2 NA18966.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 others(2): Show a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007	a0001c0001t0004g0007 a0001c0001t0007g0208 a0001c0001t0007g0209 others(3): Show a0001c0001t0004g0007 a0001c0001t0007g0208 a0001c0001t0007g0209 a0001c0002t0001g0155 a0001c0002t0005g0027 a0001c0002t0007g0105	6	250	0.0240	-150	c.633 others(17): Show c.633-1525_633-1376del	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRNIP_chr5_179832276_179863817	179849561	TGACCATG others(143): Show TGACCATGGGTCCTGCTATGGCACAGGCAGATGCTACGAGACGGAATTTG AGAGCATGGATCCTGCAATGACACAGGCAGATGGTAAGAGATGGAATTTG TGACCATGGGTCCTGCTATGGCACAGGCAGATGGTAAGAAACAGAATTTG A	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0144 a0001c0002t0001g0144	1	444	0.0023	-150	c.127 others(17): Show c.127-1645_127-1496del	MRNIP	ENSG00000161010.16	transcript	ENST00000292586.11	protein_coding	2/6			chr5	TogoVar
MSLN_chr16_755734_773862	767879	AGGAGGAG others(143): Show AGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCA CGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGG GGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGA G	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0043 a0007c0016t0001g0043	1	388	0.0026	-150	c.159 others(17): Show c.1596+412_1597-348del	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MUC4_chr3_195741771_195816929	195777240	TCATACCT others(143): Show TCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACATCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACACCCTTACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAC C	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01975.hp1 HG02976.hp1 others(2): Show HG01884.hp1 HG01975.hp1 HG02976.hp1 HG03579.hp1 NA18906.hp2	a0066 a0070 a0073 others(2): Show a0066 a0070 a0073 a0080 a0104	a0066c0177 a0070c0174 a0073c0176 others(2): Show a0066c0177 a0070c0174 a0073c0176 a0080c0170 a0104c0030	a0066c0177t0004 a0070c0174t0002 a0073c0176t0005 others(2): Show a0066c0177t0004 a0070c0174t0002 a0073c0176t0005 a0080c0170t0005 a0104c0030t0005	a0066c0177t0004g0226 a0070c0174t0002g0211 a0073c0176t0005g0228 others(2): Show a0066c0177t0004g0226 a0070c0174t0002g0211 a0073c0176t0005g0228 a0080c0170t0005g0240 a0104c0030t0005g0232	5	249	0.0201	-150	c.129 others(20): Show c.12943+913_12943+1062del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MYDGF_chr19_4652545_4675342	4672068	CATATATT others(143): Show CATATATTCATATATACTTATATATTCATATATTCATATATACTTATATA TTCATATATATGAATATATATTCATATATTCATATATATGAATATATATT CATATATTCATATATACTTATATATATATTCATATATTCATATATACTTA T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0093 a0002c0002t0002g0093	1	410	0.0024	-150	c.-18 others(11): Show c.-1884_-1735del	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding		1727		chr19	TogoVar

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