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
AGGF1_chr5_77025404_77070234	77042769	CCCCCACC others(138): Show CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCC CCCACCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCGGGGGGCCGACACCC CCACCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCGGGGGGCCGACA	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0111 a0001c0001t0004g0111	1	438	0.0023	-145	c.870 others(17): Show c.870+3055_870+3199del	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
ALG12_chr22_49895229_49923438	49902648	CTGTGTGG others(138): Show CTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATA GTGTGTGCACGTGTGCACTGTGTGTGGATGCATGGTAATGTGCACGTGTG CACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACGGTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp2 HG01884.hp2 HG01361.hp2 HG01884.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0027 a0001c0004t0022g0027	2	348	0.0058	-145	c.10 others(11): Show c.1045_*1189del	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	10/10	1045		chr22	TogoVar
ALG12_chr22_49895229_49923438	49902714	ACTGTGTG others(138): Show ACTGTGTGTGGATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTG TATGCATGGTGTGTGCACGTGTGCACGGTGTGTGGTGTGTATGCATGGTG TGTGCACGTGTGCACTGTGTATGCATAGTGTGTGCACGTGTGCACT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0063 a0002c0003t0063	a0002c0003t0063g0183 a0002c0003t0063g0183	1	348	0.0029	-145	c.97 others(10): Show c.979_*1123del	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	10/10	979		chr22	TogoVar
ARHGAP20_chr11_110572043_110717437	110619172	ATATGCAG others(138): Show ATATGCAGTGAGAGTGTATGCAGTGATAGAGTATATGCAGTGATAGCATA TATGTAGTGATAGAGTGTATGCAGTGATAGAGTGTATGCAGTGATAGAGT GTATGCAGTGATAGAGTATATGCAGTGATAGCATATATGTAGAGTG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0020 a0007c0020t0020	a0007c0020t0020g0149 a0007c0020t0020g0149	1	226	0.0044	-145	c.504 others(17): Show c.504-3723_504-3579del	ARHGAP20	ENSG00000137727.13	transcript	ENST00000683387.1	protein_coding	4/14			chr11	TogoVar
ARHGAP21_chr10_24578614_24728887	24656793	GGGGGGTC others(138): Show GGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0248 a0003c0003t0001g0248	1	352	0.0028	-145	c.268 others(19): Show c.268+10047_268+10191del	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25			chr10	TogoVar
ARHGEF10_chr8_1818926_1963641	1888678	GTGAGGAG others(138): Show GTGAGGAGACACTGAATAGGGTGAGGTTTGTGAGGAGACACTGAATAGGG TGAGGTTTGTGAGGAGACACTGAATAGGGTGAGGTTTGTGAGGAGACACT GAGTGGGGTGAGTATTGTGAGGAGACACTGAGTGGGGTGAGAGTTA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01943.hp1 HG02615.hp1 others(9): Show HG01891.hp1 HG01943.hp1 HG02615.hp1 HG02717.hp1 HG02895.hp2 HG04228.hp1 NA18945.hp1 NA18950.hp2 NA18959.hp2 NA19000.hp2 NA19004.hp2 NA19057.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0011 others(8): Show a0001c0001 a0001c0002 a0001c0011 a0001c0012 a0001c0015 a0001c0019 a0001c0021 a0001c0115 a0001c0118 a0001c0141 a0009c0029	a0001c0001t0012 a0001c0002t0001 a0001c0011t0001 others(9): Show a0001c0001t0012 a0001c0002t0001 a0001c0011t0001 a0001c0012t0001 a0001c0015t0060 a0001c0019t0001 a0001c0021t0006 a0001c0115t0005 a0001c0118t0008 a0001c0141t0007 a0009c0029t0007 a0009c0029t0041	a0001c0001t0012g0207 a0001c0002t0001g0327 a0001c0011t0001g0253 others(9): Show a0001c0001t0012g0207 a0001c0002t0001g0327 a0001c0011t0001g0253 a0001c0012t0001g0236 a0001c0015t0060g0109 a0001c0019t0001g0217 a0001c0021t0006g0128 a0001c0115t0005g0286 a0001c0118t0008g0294 a0001c0141t0007g0099 a0009c0029t0007g0202 a0009c0029t0041g0201	12	363	0.0331	-145	c.118 others(19): Show c.1182+3015_1182+3159del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF18_chr19_7343937_7477478	7367767	ATATATAC others(138): Show ATATATACACATATATATATTTTATATATATATACACATATATATATTTT ATATATATATACACATATATATATTTTATATATATATATACACATATATA TTTTTATATATATATATTTTATATATATTTTTTATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	298	0.0034	-145	c.15+ others(15): Show c.15+4864_16-4899del	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF18_chr19_7343937_7477478	7367769	ATATACAC others(138): Show ATATACACATATATATATTTTATATATATATACACATATATATATTTTAT ATATATATACACATATATATATTTTATATATATATATACACATATATATT TTTATATATATATATTTTATATATATTTTTTATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02647.hp1 HG02723.hp2 others(4): Show HG01261.hp2 HG02647.hp1 HG02723.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp2 NA20300.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0013 a0002c0004 others(1): Show a0001c0001 a0001c0013 a0002c0004 a0009c0012	a0001c0001t0002 a0001c0013t0001 a0002c0004t0004 others(1): Show a0001c0001t0002 a0001c0013t0001 a0002c0004t0004 a0009c0012t0010	a0001c0001t0002g0012 a0001c0001t0002g0070 a0001c0013t0001g0010 others(4): Show a0001c0001t0002g0012 a0001c0001t0002g0070 a0001c0013t0001g0010 a0002c0004t0004g0002 a0009c0012t0010g0003 a0009c0012t0010g0006 a0009c0012t0010g0071	7	298	0.0235	-145	c.15+ others(15): Show c.15+4865_16-4898del	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	2/28			chr19	TogoVar
ARID3A_chr19_921035_980939	950119	TGAACGGA others(138): Show TGAACGGATGGATGAGGCCGTCCCCAGAGTGAACGGATGGATGAGGCCGT CCCCAGAGTGAACGGATGGATGAGGCCGTCCCCAGAGGGAACGGATGGAT GAGGCCGTCCCCAGAGGGAACGGATGGATGAGGCCGTCCCCAGAGG	T T	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0071 a0002c0004t0071	a0002c0004t0071g0001 a0002c0004t0071g0001	1	364	0.0028	-145	c.694 others(17): Show c.694-9944_694-9800del	ARID3A	ENSG00000116017.11	transcript	ENST00000263620.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
ASAP1_chr8_130047104_130448674	130049339	AGGAGAAC others(138): Show AGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACA CATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGG CAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG03669.hp1 HG00597.hp2 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0001 a0002c0011t0001 a0002c0002t0001 a0002c0011t0001	a0002c0002t0001g0146 a0002c0011t0001g0074 a0002c0002t0001g0146 a0002c0011t0001g0074	2	308	0.0065	-145	c.52 others(11): Show c.5247_*5391del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2764		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049433	TGGGGGCA others(138): Show TGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAG AGGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAAC ACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0033 a0002c0002t0002g0033	1	308	0.0033	-145	c.51 others(11): Show c.5153_*5297del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2670		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049580	GGGGCAGA others(138): Show GGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGA GGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACAC ATGGAGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0019 a0003c0010t0019	a0003c0010t0019g0287 a0003c0010t0019g0287	1	308	0.0033	-145	c.50 others(11): Show c.5006_*5150del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2523		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049766	GGGGCAGA others(138): Show GGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGA GGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACAC ATGGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGAACACATGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0001 a0001c0007t0007g0001	1	308	0.0033	-145	c.48 others(11): Show c.4820_*4964del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2337		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049859	AGAACACA others(138): Show AGAACACATGGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGAACACAT GGAGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAG AGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	308	0.0033	-145	c.47 others(11): Show c.4727_*4871del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2244		chr8	TogoVar
ASB1_chr2_238421927_238457250	238453042	ATAACGTG others(138): Show ATAACGTGGCCCAGGACATGCCCTCACACGTAACGTGGCCCAGGACATGC CCTCACACGTAACGTGGCCCAGGACATGCCCTCACACGTAACGTGGCCCA GGACATGCCCTCACACGTAACGTGGCCCAGGATATGCCCTCACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0105 a0001c0001t0038g0105	1	416	0.0024	-145	c.65 others(11): Show c.6532_*6676del	ASB1	ENSG00000065802.12	transcript	ENST00000264607.9	protein_coding		793		chr2	TogoVar
ATP9B_chr18_79064394_79383283	79245974	CGGAGGGC others(138): Show CGGAGGGCACCGCCCTACTGTCTGTGCGGAGGGCACCGCCCTACTGACTG AGGAGGGCACCGCCCTACTGACTGTGCGGAGGGCACCACCCTACTGACTG AGGAGGGCACCACCCTGACTGTGTGGAGGGCACCACCCTACTGACT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0113 a0001c0004t0003g0113	1	298	0.0034	-145	c.110 others(19): Show c.1108-7405_1108-7261del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79246023	GAGGAGGG others(138): Show GAGGAGGGCACCGCCCTACTGACTGTGCGGAGGGCACCACCCTACTGACT GAGGAGGGCACCACCCTGACTGTGTGGAGGGCACCACCCTACTGACTGCG GAGGGCACCGCCCTACTGTCTGTGCGGAGGGCACCGCCCTACTGAC	G G	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0234 a0002c0002t0002g0234	1	298	0.0034	-145	c.110 others(19): Show c.1108-7357_1108-7213del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29			chr18	TogoVar
BRSK2_chr11_1384934_1467689	1431767	CGGGGTCT others(138): Show CGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGC GGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGT CTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0216 a0002c0002t0005g0216	1	360	0.0028	-145	c.92- others(15): Show c.92-4270_92-4126del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1435206	AGAGGAGG others(138): Show AGAGGAGGGGTGCCGGTGGGGGTCTCAGCGGAGGAGGGGTGCCGGTGGGG GTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGC CGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18955.hp2 NA18971.hp1 others(4): Show HG00558.hp1 NA18955.hp2 NA18971.hp1 NA18973.hp2 NA19011.hp2 NA19080.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0001c0003t0026 a0002c0002t0002 a0001c0003t0001 a0001c0003t0026 a0002c0002t0002	a0001c0003t0001g0138 a0001c0003t0001g0335 a0001c0003t0001g0336 others(4): Show a0001c0003t0001g0138 a0001c0003t0001g0335 a0001c0003t0001g0336 a0001c0003t0001g0338 a0001c0003t0026g0054 a0001c0003t0026g0354 a0002c0002t0002g0064	7	360	0.0194	-145	c.92- others(13): Show c.92-808_92-664del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1435232	AGCGGAGG others(138): Show AGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTG GGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGG TGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01496.hp2 HG01943.hp1 others(7): Show HG01361.hp2 HG01496.hp2 HG01943.hp1 HG02055.hp2 HG02080.hp1 HG02486.hp2 HG03130.hp2 NA19010.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0024 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0024 a0001c0001t0059 a0002c0002t0002	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(7): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0130 a0001c0001t0001g0339 a0001c0001t0004g0179 a0001c0001t0004g0314 a0001c0001t0024g0292 a0001c0001t0059g0041 a0002c0002t0002g0140	10	360	0.0278	-145	c.92- others(13): Show c.92-590_92-446del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1435450	CCGGTGGG others(138): Show CCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAG GAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCT CGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18945.hp1 HG00673.hp1 NA18945.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0135 a0001c0003t0001g0331 a0001c0003t0001g0135 a0001c0003t0001g0331	2	360	0.0056	-145	c.92- others(13): Show c.92-568_92-424del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C7orf50_chr7_992006_1143247	1108164	GCACTGGA others(138): Show GCACTGGAGTCCCGCACCCCGGGGGGAAGCAGAGGGGGGCTGTGTCCCGC ACTGGAGTCCCGCACCCCGGGGGGGAAGCAGAGGAGGGCTGTGTCCCGCA CTGGAGTCCCGCACCCCGGGGGGAAGCAGGGGAGGGCTGTGTCCCA	G G	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	326	0.0031	-145	c.129 others(19): Show c.129+18948_129+19092del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CANT1_chr17_78986716_79014764	79004435	AGGGAGAG others(138): Show AGGGAGAGGAGTTAAGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAGG GGAGTTAGGGAGGGGGGAGTTAGGGAGAGGGGGGTTAGGGAGAAGGGAGT TAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGGGGGGAGTTAG	A A	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0067 a0001c0002t0002g0067	1	394	0.0025	-145	c.-14 others(19): Show c.-147+5084_-147+5228del	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CBLC_chr19_44772890_44805652	44801830	GCAGCCCC others(138): Show GCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCC CTCAGACCTAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAG TCCAGACCCCCAACCCCTTCTCCCTCAGACCCAGGAGTCCAGGCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03098.hp1 NA19043.hp2 HG02258.hp1 HG03098.hp1 NA19043.hp2	a0001 a0008 a0001 a0008	a0001c0006 a0001c0009 a0008c0019 a0001c0006 a0001c0009 a0008c0019	a0001c0006t0001 a0001c0009t0001 a0008c0019t0001 a0001c0006t0001 a0001c0009t0001 a0008c0019t0001	a0001c0006t0001g0047 a0001c0009t0001g0073 a0008c0019t0001g0060 a0001c0006t0001g0047 a0001c0009t0001g0073 a0008c0019t0001g0060	3	344	0.0087	-145	c.12 others(11): Show c.1288_*1432del	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding		1179		chr19	TogoVar
CBLC_chr19_44772890_44805652	44801863	GCCCCAGC others(138): Show GCCCCAGCCCCTCCTCCCTCAGACCTAGGAGTCCAGGCCCCAGCCCCTCC TCCCTCAGACCCAGGAGTCCAGACCCCCAACCCCTTCTCCCTCAGACCCA GGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 NA18522.hp1 HG03130.hp2 NA18522.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0052 a0001c0006t0001g0053 a0001c0006t0001g0052 a0001c0006t0001g0053	2	344	0.0058	-145	c.13 others(11): Show c.1321_*1465del	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding		1212		chr19	TogoVar
CCDC85A_chr2_56178990_56391172	56208035	AGTCACAT others(138): Show AGTCACATGTCTGCTTTCAATTCTGAGTTCTTATAAAAATATGTTATATT GTTTCTTAAGGATTGATTTTTACAGTATTCAAGATACCAAATTTCATTAG CCCAGAAGAAACTAAACTAAATTTCTAATTTTATCCATACAATGAG	A A	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	308	0.0033	-145	c.124 others(21): Show c.1240+14631_1240+14775del	CCDC85A	ENSG00000055813.6	transcript	ENST00000407595.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
CDH23_chr10_71391920_71820947	71456402	AGGTGATA others(138): Show AGGTGATAGAACAGACTGTGTCTTCTTGGGGGTCCTTTGGGCTGTAGCCA CTCCCAAGCGGTCCCTGTCTGGGCACATCTGGAGCCTGTGGCAGCCCCGG CTATGGACTGCCCCTCAACACACAGGTGTGGGTATGGGGCGGGGCT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02257.hp1 HG02622.hp1 others(5): Show HG01433.hp2 HG02257.hp1 HG02622.hp1 HG02723.hp2 HG03139.hp1 HG03195.hp1 NA18906.hp1 NA20129.hp2	a0021 a0036 a0039 others(5): Show a0021 a0036 a0039 a0052 a0070 a0071 a0072 a0082	a0021c0148 a0036c0166 a0039c0144 others(5): Show a0021c0148 a0036c0166 a0039c0144 a0052c0160 a0070c0056 a0071c0050 a0072c0041 a0082c0066	a0021c0148t0003 a0036c0166t0001 a0039c0144t0001 others(5): Show a0021c0148t0003 a0036c0166t0001 a0039c0144t0001 a0052c0160t0001 a0070c0056t0001 a0071c0050t0001 a0072c0041t0001 a0082c0066t0007	a0021c0148t0003g0188 a0036c0166t0001g0187 a0039c0144t0001g0181 others(5): Show a0021c0148t0003g0188 a0036c0166t0001g0187 a0039c0144t0001g0181 a0052c0160t0001g0141 a0070c0056t0001g0179 a0071c0050t0001g0180 a0072c0041t0001g0178 a0082c0066t0007g0177	8	196	0.0408	-145	c.145 others(19): Show c.145+10012_145+10156del	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	3/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CENPVL3_chrX_51612020_51623912	51621545	CTTCTTCT others(138): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01106.hp1 HG03098.hp1 others(15): Show HG00280.hp1 HG01106.hp1 HG03098.hp1 HG03195.hp1 HG04204.hp1 NA18939.hp2 NA18940.hp1 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18982.hp1 NA18998.hp2 NA19007.hp1 NA19054.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0011 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0011 a0002c0002t0001 a0002c0002t0005	a0001c0001t0001g0000 a0001c0001t0011g0000 a0002c0002t0001g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0011g0000 a0002c0002t0001g0000 a0002c0002t0005g0000	18	298	0.0604	-145	c.-28 others(11): Show c.-2817_-2673del	CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding		2634		chrX	TogoVar
CHID1_chr11_862859_915810	881457	CTGGGTGG others(138): Show CTGGGTGGTGAGGGAAAGGACGTCGGGCGGTAGGCTGGGTGGTGAGGGAA AGGACCACGTCGGGCGGTAGGCTGGGTGGTGAGGGAAAGGACCACGTCGG GCGGTAGGTTGGGTGGTGAGGGAAAGGACCACGTCGGGCGGTAGGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00733.hp2 HG01070.hp2 others(28): Show HG00140.hp1 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01255.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG02055.hp1 HG02257.hp2 HG02486.hp1 HG02809.hp2 HG02976.hp1 HG03209.hp2 HG03453.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp1 HG04199.hp2 HG04228.hp1 NA18967.hp1 NA19002.hp2 NA19065.hp1 NA19065.hp2 NA19085.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002	a0001c0001t0001g0097 a0001c0001t0001g0162 a0001c0001t0002g0019 others(25): Show a0001c0001t0001g0097 a0001c0001t0001g0162 a0001c0001t0002g0019 a0001c0001t0002g0025 a0001c0001t0002g0043 a0001c0001t0002g0059 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0163 a0001c0001t0002g0190 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0003g0017 a0001c0001t0003g0075 a0002c0002t0002g0155 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0002g0036 a0003c0003t0002g0096 a0003c0003t0002g0154 a0003c0003t0002g0158 a0003c0003t0002g0159 a0003c0003t0002g0160 a0003c0003t0002g0161	31	386	0.0803	-145	c.959 others(17): Show c.959+1546_959+1690del	CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	10/12			chr11	TogoVar
COL23A1_chr5_178232618_178595393	178420393	CCCTCCCC others(138): Show CCCTCCCCTCCCTGAGATGTGACCTCCCTTCTCCCCTCCCCCGCTCTTTC CTCCTCCCCTCCCCACCTCTATCCTCCTCCCCTCCCCCGCTCTTTCCTCC TCCCCTCCCCCCTTTTTCCTCCTCTCCTCCCCCTCCTCACTTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0064	1	236	0.0042	-145	c.362 others(21): Show c.362-113619_362-113475del	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL4A2_chr13_110302284_110518209	110408894	TACACACA others(138): Show TACACACATGCAGATATACACATGCACACACACGTACACACGCACACATA TATACACGGACACATACACATAACGCACATATACACACACATGCACACAC GCACACATACACACACACATACACATGGACACGCGCACACGTTTAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0013 a0001c0011t0013	a0001c0011t0013g0105 a0001c0011t0013g0105	1	372	0.0027	-145	c.181 others(19): Show c.181-15834_181-15690del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COMMD10_chr5_116080025_116298287	116158280	GTCTCCCC others(138): Show GTCTCCCCTCTCCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTC TCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCC CTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	350	0.0029	-145	c.510 others(19): Show c.510+24114_510+24258del	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CPNE7_chr16_89570758_89602246	89587930	CACCCACA others(138): Show CACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCG TGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCC CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	348	0.0029	-145	c.928 others(15): Show c.928-723_928-579del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DIP2C_chr10_269201_694668	417971	GGCTCGGA others(138): Show GGCTCGGATAGGCCTCCCTGTCCACCTGCACCTGTCAGGGCGCGGACAGG CCTCCCTGTCCACCTGTTCCTGTCAGGGCTTCGATAGGCCTCCCTGTTCA CTGCACCTGTCAGGCCTCAGATAGGCATCCCCGTCCACCTGTCGGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	88	0.0114	-145	c.739 others(16): Show c.739+949_739+1093del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DYNC2H1_chr11_103104426_103484863	103180669	AATAAATG others(138): Show AATAAATGTTATTATTAATGATTCTGGGACAACTGGTATGAAGCAGTGTT GTATTGGATAAACCAAGACATGTAGTCTCATAGACATTGAGAAAATACCA TTGGTAAGAAACTCTTTATTCTGAAGGAGCTTAGCATCTTTGGTTG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG06807.hp2 HG03098.hp2 HG06807.hp2	a0017 a0017	a0017c0055 a0017c0056 a0017c0055 a0017c0056	a0017c0055t0001 a0017c0056t0001 a0017c0055t0001 a0017c0056t0001	a0017c0055t0001g0002 a0017c0056t0001g0001 a0017c0055t0001g0002 a0017c0056t0001g0001	2	262	0.0076	-145	c.634 others(18): Show c.6348-1087_6348-943del	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	39/88			chr11	TogoVar
EXD3_chr9_137301896_137428162	137394146	TTTCCCTA others(138): Show TTTCCCTAACCCTGGCCTCCCAGCCTCTGCTTCCCTAACCCCAGCCTCCC AGCCTCCGCTTCCCTAACCCCGGCCTCCCAGCCTCCGCTTCCCTAACCCC GGCCTCCCAGCCTCCGCTTCCCTAACCCCGGCCTCCCAGCCTCCGC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0001 a0008c0020t0001	a0008c0020t0001g0005 a0008c0020t0001g0005	1	82	0.0122	-145	c.55+ others(15): Show c.55+1012_55+1156del	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	2/21			chr9	TogoVar
FAM149A_chr4_186099704_186180337	186173407	CAGTGGCA others(138): Show CAGTGGCACGATCTCGGCTCACTACAACCTCCACCTCCTGGGCTCAAGCG ATTCTCCTGCTTCAGCCTCCTGGGTAGCTAGGATTACAGGTGCATGCCAC CACACCCAGCTAAATTTTTTTTGTATTTTTAGTAGAGGCAGGGTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0065 a0013c0027t0065	a0013c0027t0065g0198 a0013c0027t0065g0198	1	390	0.0026	-145	c.14 others(11): Show c.1421_*1565del	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	14/14	1421		chr4	TogoVar
FGD6_chr12_95071749_95222467	95148848	TTATATAT others(138): Show TTATATATATTATATAAGATATAGCATATATTATATATATTATATAAGAT ATAGCATATATTATATATATTATATAAGATATAGCATATATTATATATAT TATATAAGATATAGCATATATTATATATATTATATAAGATATAGCA	T T	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0062 a0001c0003t0002g0062	1	384	0.0026	-145	c.268 others(19): Show c.2685+3818_2685+3962del	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20			chr12	TogoVar
FMR1NB_chrX_147976337_148031665	148016096	GATTTTTT others(138): Show GATTTTTTTCTGATGTAAGTATAGCTACTCCTTCCCTTTCTTGGTTTCCA TTGGTATGGAATGTCTTTTTTCATTCCTTTATTTTCAGTCTATATGTGTC TTTATAGGTGAAGTGTGTTTCTTCATATAGTTTTGTTTTGAAATAT	G G	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03098.hp1 HG02273.hp2 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0150 a0002c0002t0001g0025 a0001c0001t0001g0150 a0002c0002t0001g0025	2	275	0.0073	-145	c.632 others(17): Show c.632+7417_632+7561del	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
FOXD4L1_chr2_113493665_113506150	113496562	TTTCCGTT others(138): Show TTTCCGTTATCTCCTGTTCCCGCCTTTGACATGCCCCCATCAATGTGGGT TTCCGTTATCTCCTGTTCCCGCCTTTGACATGCCCCCATCAATGTGGGTT TCCGTTATCTCCTGTTCCCGCCTTTGACATGCCCCCTCAATGTGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0002 a0000c0002t0002	a0000c0002t0002g0000 a0000c0002t0002g0000	1	326	0.0031	-145	c.-26 others(11): Show c.-2694_-2550del	FOXD4L1	ENSG00000184492.7	transcript	ENST00000306507.7	protein_coding		2102		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806123	TCCCCCCT others(138): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG02559.hp1 HG02717.hp2 HG00733.hp2 HG02559.hp1 HG02717.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0001 a0002c0002t0002 a0004c0004t0001	a0002c0002t0002g0021 a0002c0002t0002g0125 a0004c0004t0001g0126 a0002c0002t0002g0021 a0002c0002t0002g0125 a0004c0004t0001g0126	3	314	0.0096	-145	c.19 others(11): Show c.1958_*2102del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1837		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132231065	GTGCCACA others(138): Show GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTACT GCCACACACTCCATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCCTAC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0067 a0001c0015t0001g0067	1	183	0.0055	-145	c.107 others(21): Show c.1077+16700_1077+16844del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GATA5_chr20_62458497_62480995	62476954	CTTTCTTT others(138): Show CTTTCTTTCTTTTTTCTTTCTCGGAGCACACCGGGTGGACCCAGGCTTGG CGGCCATGAAAGTTCTTTTTTCTTTCTTCCTTCCTTTCTTTCTTTCTTTC TTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02809.hp1 HG01243.hp2 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0217 a0001c0002t0003g0222 a0001c0002t0001g0217 a0001c0002t0003g0222	2	382	0.0052	-145	c.-11 others(11): Show c.-1191_-1047del	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		960		chr20	TogoVar
GLB1L3_chr11_134271379_134324564	134308212	CACCATCA others(138): Show CACCATCACCATCACCACCACCACCATCACCATCACCACCATCACCACCA CCACCACCACCACCACCACCAAATACCACCACCACCACCACCACCACCAC TACCACCACCATCACCATCACCATCACCATCATCACCATCACCACT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0224 a0002c0004t0001g0224	1	422	0.0024	-145	c.961 others(17): Show c.961+1009_961+1153del	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GNA11_chr19_3089362_3128999	3090490	GCCTGCCT others(138): Show GCCTGCCTTGGCCTCCCAAAGTGCTGGGATGACAGGCGTGAGCCACCGTG CCCAGCAAATTTTATTTTTACTTTTGTAGGGTGTGTACGTGGGGGTCTTG CTATGCTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAGTCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0151 a0001c0001t0034g0151	1	425	0.0024	-145	c.-41 others(11): Show c.-4161_-4017del	GNA11	ENSG00000088256.9	transcript	ENST00000078429.9	protein_coding		3871		chr19	TogoVar
GTPBP6_chrX_299759_323796	322198	CAAAAAAA others(138): Show CAAAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTG GTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG TTTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 NA18522.hp1 HG03195.hp2 NA18522.hp1	a0010 a0017 a0010 a0017	a0010c0029 a0017c0028 a0010c0029 a0017c0028	a0010c0029t0005 a0017c0028t0005 a0010c0029t0005 a0017c0028t0005	a0010c0029t0005g0077 a0017c0028t0005g0078 a0010c0029t0005g0077 a0017c0028t0005g0078	2	155	0.0129	-145	c.-35 others(11): Show c.-3556_-3412del	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3403		chrX	TogoVar
HBQ1_chr16_175459_186179	186034	AGGAATAC others(138): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00609.hp2 others(74): Show HG00408.hp1 HG00423.hp1 HG00609.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01255.hp2 HG01256.hp2 HG01496.hp1 HG01993.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02809.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG04184.hp1 HG04204.hp2 NA18940.hp2 NA18943.hp2 NA18948.hp2 NA18953.hp1 NA18954.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18978.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19006.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19068.hp2 NA19078.hp1 NA19085.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0007t0002 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0002 others(5): Show a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0003g0001 a0001c0007t0002g0001 a0004c0005t0001g0001	77	384	0.2005	-145	c.49 others(11): Show c.4927_*5071del	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4856		chr16	TogoVar
HLA-DPB1_chr6_33070990_33094696	33092837	GCCATGAC others(138): Show GCCATGACGATGCCAGCAATACCCCTCTGAGAGGAACAGGCAGCTATAGG CAGTGCCATTTGTGGCCCAAGTCTGTTTGGACCATTGATCCGGGTGTTCA AGTGCTTCCTTGCCATGACGATGCCAGCAATACCCCTCTGAGCACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0028 a0002c0017t0001g0028	1	455	0.0022	-145	c.63 others(11): Show c.6304_*6448del	HLA-DPB1	ENSG00000223865.11	transcript	ENST00000418931.7	protein_coding		3142		chr6	TogoVar
IFT52_chr20_43585937_43652299	43650439	TCTACTAA others(138): Show TCTACTAAAAATACAAAAATTAGCCTGGCGTGGCGGGCGCCTGTAATCCC AGCTACTCAGGAGACTGAGGTGGGAAAATTGCTTGAACCCGGGAAGTGGA GGTAGCAGTGAGTCGAGATCATGCCATTGCACTCCAGCCTGGGTAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	300	0.0033	-145	c.34 others(11): Show c.3457_*3601del	IFT52	ENSG00000101052.13	transcript	ENST00000373030.8	protein_coding		3141		chr20	TogoVar
IGLON5_chr19_51306644_51335891	51311090	TCTGAGGG others(138): Show TCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGGGGGCCTGGGCTCCAGGGTCTGAGAGAGGAGGGGCTGGGCCTGG ACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 NA19010.hp2 HG00423.hp1 NA19010.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0052 a0001c0003t0001g0052	2	418	0.0048	-145	c.-75 others(9): Show c.-757_-613del	IGLON5	ENSG00000142549.10	transcript	ENST00000270642.9	protein_coding		553		chr19	TogoVar

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