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
HEPHL1_chr11_94016354_94119208	94115448	CTCTGCTA others(104): Show CTCTGCTAGTTCTTTCTTGCCTCAGGGCCTTTGCACATGCTGCTTTCTAT GCCTGGAATGCTCTCCCTCCCTAGCTTCCTCATTCCCTCTCTGTATTAGT CGGGGTTCTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	366	0.0027	-111	c.35 others(11): Show c.3555_*3665del	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding		1241		chr11	TogoVar
HINT3_chr6_125951770_125985244	125962201	TATATATA others(104): Show TATATATATACACATATATATATATATATATATACACATATATATATATA CACACATATATATATATATACATACATATATATATACACATATATATATA TATATATCACAC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0078 a0001c0001t0008g0078	1	266	0.0038	-111	c.202 others(17): Show c.202-4676_202-4566del	HINT3	ENSG00000111911.7	transcript	ENST00000229633.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
HLA-DPB1_chr6_33070990_33094696	33092754	TAGAGGAA others(104): Show TAGAGGAACAGGCAGCTATAGGCAGTGCCATTTGTGGCCCAAGTCTGTTT GGACCATTGATCCGGGTGTTCAAGTGCTTCCTTGCCATGACGATGCCAGC AATACCCCTCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0027 a0027	a0027c0023 a0027c0023	a0027c0023t0021 a0027c0023t0021	a0027c0023t0021g0109 a0027c0023t0021g0109	1	454	0.0022	-111	c.62 others(11): Show c.6221_*6331del	HLA-DPB1	ENSG00000223865.11	transcript	ENST00000418931.7	protein_coding		3059		chr6	TogoVar
HMCN2_chr9_130260760_130439123	130277772	CCATCATC others(104): Show CCATCATCATCACCACCACCATCATCATCACCACCACCACCATCATCATC ATCACCACCACCATCATCATCATCACCACCACCACCACCATCATCATCAT CACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0220 a0001c0220	a0001c0220t0001 a0001c0220t0001	a0001c0220t0001g0047 a0001c0220t0001g0047	1	144	0.0069	-111	c.260 others(17): Show c.260-6822_260-6712del	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	1/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HNF4A_chr20_44350699_44437845	44430636	GAGGGCCT others(104): Show GAGGGCCTGCTGGAGAGCATAGGGTCTGGAACACCAGGCTGAGGTCCTGA TCAGCTTCAAGGAGTATGCAGGGAGCTGGGCTTCCAGAAAATGAACACAG CAGTTCTGCAGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0169 a0001c0001t0082g0169	1	320	0.0031	-111	c.97 others(10): Show c.972_*1082del	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	10/10	972		chr20	TogoVar
HRC_chr19_49146198_49160396	49156943	CCCCCTCT others(104): Show CCCCCTCTCTCTGGGTCTCTGTCCCCGTCTCTCTGGGTCTCTGTCCCCCT CTCTCTGGGTCTCTGTCCTCCTCTCTCTCTGGGTCTCTGTTCCCCTCTCT CTGGGTCTCTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	404	0.0025	-111	c.-18 others(11): Show c.-1817_-1707del	HRC	ENSG00000130528.12	transcript	ENST00000252825.9	protein_coding		1548		chr19	TogoVar
HRH3_chr20_62209960_62225278	62213285	TAAGGAGA others(104): Show TAAGGAGAGCGGGGATGGGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAG CAAGGATGGGGGGGAAGGAGAGTGGGGATGGGTGGGGGAAGGAGAGTGGG GATGGGTGGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01255.hp1 HG02145.hp1 others(8): Show HG00735.hp1 HG01255.hp1 HG02145.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02809.hp1 HG03098.hp2 HG03225.hp2 HG03471.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0002t0001g0005 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0002t0001g0005 a0001c0002t0001g0008 a0001c0003t0001g0010	11	156	0.0705	-111	c.26 others(11): Show c.2610_*2720del	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1674		chr20	TogoVar
HSD17B11_chr4_87331515_87396188	87378850	ATATATAA others(104): Show ATATATAAATATATATAAATATATATATATAAATATATATATATAAATAT ATATAAATATATATATATAAATATATATAAATATATATATATATATATTT ATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02818.hp2 HG02886.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0355 a0001c0005t0004g0356 a0001c0005t0004g0360 a0001c0005t0004g0355 a0001c0005t0004g0356 a0001c0005t0004g0360	3	378	0.0079	-111	c.318 others(17): Show c.318+3294_318+3404del	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6			chr4	TogoVar
HSD17B14_chr19_48808018_48841491	48834454	GGGCCTGG others(104): Show GGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCT GGGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAG GAAGGGCTGGGA	G G	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA18942.hp1 NA18994.hp1 HG01975.hp2 NA18942.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0106 a0001c0001t0001g0138 a0001c0001t0001g0068 a0001c0001t0001g0106 a0001c0001t0001g0138	3	391	0.0077	-111	c.128 others(14): Show c.128-207_128-97del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834493	TCTGGACT others(104): Show TCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGG GTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTA GGGCCTGGGGGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG01099.hp2 others(15): Show HG00099.hp1 HG00733.hp1 HG01099.hp2 HG01168.hp2 HG01361.hp2 HG01943.hp1 HG02145.hp1 HG02258.hp1 HG02717.hp1 HG02895.hp2 HG02922.hp2 HG03098.hp2 HG03453.hp2 HG03540.hp1 HG03704.hp1 HG06807.hp1 NA19043.hp1 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0291 others(14): Show a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0302 a0002c0002t0001g0316 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0321 a0002c0002t0001g0323 a0002c0002t0001g0329 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0345 a0002c0002t0001g0366 a0002c0002t0001g0367 a0002c0002t0001g0370	18	362	0.0497	-111	c.128 others(15): Show c.128-246_128-136del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834565	AGCCTGGA others(104): Show AGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCT GGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAG TAGGGCCTGGGG	A A	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA19081.hp2 NA18993.hp1 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0303 a0002c0002t0001g0335 a0002c0002t0001g0303 a0002c0002t0001g0335	2	386	0.0052	-111	c.128 others(15): Show c.128-318_128-208del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834630	AGGGCTGG others(104): Show AGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCC TGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGT CTGAGGGAGGAG	A A	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	318	0.0031	-111	c.128 others(15): Show c.128-383_128-273del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834676	GGCCTGGA others(104): Show GGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGGGA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	369	0.0027	-111	c.128 others(15): Show c.128-429_128-319del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48835186	CTGGGGGC others(104): Show CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGAGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02055.hp2 others(11): Show HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02451.hp2 HG03098.hp1 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03942.hp1 HG04204.hp1 NA18522.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0377 a0001c0001t0001g0378 a0002c0002t0002g0003 others(10): Show a0001c0001t0001g0377 a0001c0001t0001g0378 a0002c0002t0002g0003 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0029	14	390	0.0359	-111	c.127 others(15): Show c.127+508_127+618del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HTR4_chr5_148476547_148659527	148659395	TGTAAGAG others(104): Show TGTAAGAGTCAAATCTACAGCAGAGGGCCATGTTTATCCTTATTTTGCTC TATGTTCTGAAGTGTATGATTATCTCCCAGTCTCCCAAACCCATATCAGA TTAATGAGTGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	308	0.0032	-111	c.-54 others(11): Show c.-5492_-5382del	HTR4	ENSG00000164270.19	transcript	ENST00000377888.8	protein_coding		4869		chr5	TogoVar
IGLON5_chr19_51306644_51335891	51310771	AGCTGGGG others(104): Show AGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTG GACTCCTGGGTCTGAGGGACGAGGGGCTGGGGGCCTGGGCTCCAGGGTCT GAGGGAGGAGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0241 a0001c0009t0006g0241	1	346	0.0029	-111	c.-10 others(10): Show c.-1076_-966del	IGLON5	ENSG00000142549.10	transcript	ENST00000270642.9	protein_coding		872		chr19	TogoVar
IGLON5_chr19_51306644_51335891	51310840	CGAGGGGC others(104): Show CGAGGGGCTGGGGGCCTGGGCTCCAGGGTCTGAGGGAGGAGGGGCTGGGG GCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTG GGTCTGAGGGAG	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02818.hp1 others(1): Show HG02257.hp2 HG02451.hp1 HG02818.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 a0001c0001t0001 a0001c0001t0002 a0001c0001t0025	a0001c0001t0001g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 others(1): Show a0001c0001t0001g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0025g0240	4	172	0.0233	-111	c.-10 others(10): Show c.-1008_-898del	IGLON5	ENSG00000142549.10	transcript	ENST00000270642.9	protein_coding		804		chr19	TogoVar
INO80D_chr2_205988721_206091174	205988765	AAATAAAA others(104): Show AAATAAAATAAAATAAAATAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAAATAAATAAAATAAATAAAATAAAATAAATAAAATAAATAA AATAAATAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0040 a0002c0005t0040	a0002c0005t0040g0325 a0002c0005t0040g0325	1	332	0.0030	-111	c.15 others(13): Show c.15492_*15602del	INO80D	ENSG00000114933.16	transcript	ENST00000403263.6	protein_coding		4955		chr2	TogoVar
INPP5K_chr17_1489577_1521612	1508730	TAGCGTGG others(104): Show TAGCGTGGGGCAGAGGGCGGGGAACAGTCTGCAGACCCAGGCTCACTCGT GGCGGTCAGCTGGGGCAGAGGGCGGGGAACAGTCTGCAGACCCAGGCTCA CTCGTGGGGGTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02723.hp2 others(7): Show HG01109.hp2 HG01884.hp2 HG02723.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03130.hp2 HG03540.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0019 others(1): Show a0001c0001t0008 a0001c0001t0011 a0001c0001t0019 a0001c0001t0026	a0001c0001t0008g0010 a0001c0001t0008g0065 a0001c0001t0011g0063 others(2): Show a0001c0001t0008g0010 a0001c0001t0008g0065 a0001c0001t0011g0063 a0001c0001t0019g0059 a0001c0001t0026g0064	10	417	0.0240	-111	c.554 others(15): Show c.554+337_554+447del	INPP5K	ENSG00000132376.20	transcript	ENST00000421807.7	protein_coding	5/11			chr17	TogoVar
INPP5K_chr17_1489577_1521612	1508755	AGTCTGCA others(104): Show AGTCTGCAGACCCAGGCTCACTCGTGGCGGTCAGCTGGGGCAGAGGGCGG GGAACAGTCTGCAGACCCAGGCTCACTCGTGGGGGTCAGCGTGGGGCAGA GGGCGGGGAACG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00741.hp2 HG01069.hp1 others(42): Show HG00423.hp2 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG01123.hp1 HG01169.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02165.hp1 HG02738.hp2 HG02818.hp1 HG03491.hp1 HG03492.hp1 HG04228.hp1 NA18522.hp2 NA18747.hp2 NA18941.hp1 NA18945.hp2 NA18955.hp1 NA18957.hp2 NA18968.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18987.hp1 NA18994.hp2 NA19002.hp1 NA19011.hp1 NA19055.hp2 NA19064.hp1 NA19065.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19088.hp1 NA20300.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0034 a0001c0001t0038 a0002c0003t0001 a0002c0003t0002	a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0001g0080 others(20): Show a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0191 a0001c0001t0004g0006 a0001c0001t0004g0082 a0001c0001t0004g0136 a0001c0001t0004g0139 a0001c0001t0004g0143 a0001c0001t0004g0199 a0001c0001t0007g0138 a0001c0001t0007g0142 a0001c0001t0009g0011 a0001c0001t0009g0068 a0001c0001t0034g0137 a0001c0001t0038g0144 a0002c0003t0001g0193 a0002c0003t0002g0192	45	417	0.1079	-111	c.554 others(15): Show c.554+312_554+422del	INPP5K	ENSG00000132376.20	transcript	ENST00000421807.7	protein_coding	5/11			chr17	TogoVar
IQCA1_chr2_236319151_236512476	236491135	ATATACAG others(104): Show ATATACAGTATATATATACACACAGTATATATATATATATATATATACAC ACAGTATATATATATATATATATATATACACACAGTATATATATATATAT ATATATACACAG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA20129.hp1 NA20300.hp2 NA18522.hp1 NA20129.hp1 NA20300.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0012 a0001c0001 a0012c0012	a0001c0001t0004 a0001c0001t0007 a0012c0012t0005 a0001c0001t0004 a0001c0001t0007 a0012c0012t0005	a0001c0001t0004g0174 a0001c0001t0007g0025 a0012c0012t0005g0192 a0001c0001t0004g0174 a0001c0001t0007g0025 a0012c0012t0005g0192	3	206	0.0146	-111	c.456 others(17): Show c.456+2522_456+2632del	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	3/18			chr2	TogoVar
KALRN_chr3_124028369_124731325	124628200	CCCCCCCT others(104): Show CCCCCCCTCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCCTCCCTCCCTTC TTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCTT CATTCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01123.hp1 HG01175.hp1 others(13): Show HG00323.hp1 HG01123.hp1 HG01175.hp1 HG01515.hp1 HG01517.hp1 HG02071.hp2 HG02129.hp1 HG02273.hp1 HG03688.hp2 NA18612.hp2 NA18947.hp2 NA18955.hp2 NA19002.hp1 NA19004.hp2 NA19010.hp2 NA19077.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0001c0005 others(7): Show a0001c0002 a0001c0004 a0001c0005 a0001c0010 a0001c0016 a0001c0018 a0001c0025 a0001c0038 a0001c0072 a0004c0013	a0001c0002t0024 a0001c0004t0030 a0001c0005t0001 others(9): Show a0001c0002t0024 a0001c0004t0030 a0001c0005t0001 a0001c0010t0002 a0001c0016t0011 a0001c0016t0025 a0001c0018t0026 a0001c0025t0001 a0001c0025t0002 a0001c0038t0002 a0001c0072t0001 a0004c0013t0002	a0001c0002t0024g0006 a0001c0004t0030g0051 a0001c0005t0001g0030 others(13): Show a0001c0002t0024g0006 a0001c0004t0030g0051 a0001c0005t0001g0030 a0001c0005t0001g0041 a0001c0005t0001g0042 a0001c0010t0002g0012 a0001c0010t0002g0066 a0001c0016t0011g0063 a0001c0016t0025g0004 a0001c0018t0026g0072 a0001c0025t0001g0048 a0001c0025t0002g0034 a0001c0038t0002g0035 a0001c0072t0001g0061 a0004c0013t0002g0001 a0004c0013t0002g0002	16	114	0.1404	-111	c.518 others(19): Show c.5183-4134_5183-4024del	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	34/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCTD16_chr5_144165873_144490686	144454434	AATATATA others(104): Show AATATATACAGAATATTGATTCTTCTTGAAGCCAAATTCTTAAGATTTCC AAATTATAAATTGGCCACATTTCTGGAATTATATCAACATGAAATCGGAA AGATATTTCCTC	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0084 a0001c0001t0009g0084	1	156	0.0064	-111	c.833 others(19): Show c.833-19222_833-19112del	KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
KIF17_chr1_20659014_20723007	20683848	CTGTGCCC others(104): Show CTGTGCCCTTTCTCTAGGATGCCACCCCTGCAGCAAACCTTTTTCAGCTG TCTCCACTTCTGTGAAGGCCCCCCAGCCTTCCCTCCACACCACACTGTGA AAACAGCCAGGA	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0004 a0004	a0004c0103 a0004c0103	a0004c0103t0005 a0004c0103t0005	a0004c0103t0005g0107 a0004c0103t0005g0107	1	412	0.0024	-111	c.223 others(17): Show c.2231+850_2231+960del	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	10/14			chr1	TogoVar
KIF1A_chr2_240708767_240825219	240781018	CTACACAC others(104): Show CTACACACACACACACACAGCTCACACACACACACACACACACACACAGC TCCACACACACACACAGCTCTACACACACACACACAGCTCCACACACACA CACAGCTCCACA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01433.hp1 others(2): Show HG01256.hp2 HG01258.hp1 HG01433.hp1 HG01516.hp2 HG03669.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0021 a0001c0004 a0001c0006 a0001c0021	a0001c0004t0001 a0001c0004t0006 a0001c0006t0005 others(1): Show a0001c0004t0001 a0001c0004t0006 a0001c0006t0005 a0001c0021t0006	a0001c0004t0001g0025 a0001c0004t0006g0023 a0001c0006t0005g0027 others(2): Show a0001c0004t0001g0025 a0001c0004t0006g0023 a0001c0006t0005g0027 a0001c0021t0006g0133 a0001c0021t0006g0136	5	183	0.0273	-111	c.882 others(17): Show c.882+1461_882+1571del	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF26B_chr1_245149985_245714432	245323941	TATGTGGG others(104): Show TATGTGGGTGGTGGGAGGTGGAGGTGGGGTGGGCCCTGCCATGGGTGGTG AGAGGTAGAGTTGGTGTGGACTCTGCCAGGGGTGGTTGGAGGTGGAGGTG GGGTGGACCCTG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG00639.hp2 others(37): Show HG00408.hp2 HG00609.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG01106.hp1 HG01109.hp2 HG01192.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01981.hp1 HG02055.hp1 HG02074.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02486.hp1 HG02559.hp2 HG02698.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp2 HG03710.hp2 NA18971.hp2 NA18999.hp1 NA19002.hp1 NA19043.hp1 NA20129.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0018	a0001c0001 a0001c0002 a0001c0004 others(15): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0016 a0001c0044 a0001c0046 a0001c0052 a0002c0028 a0002c0029 a0002c0031 a0003c0003 a0004c0011 a0005c0058 a0018c0062	a0001c0001t0002 a0001c0001t0008 a0001c0001t0024 others(33): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0024 a0001c0001t0036 a0001c0001t0038 a0001c0001t0041 a0001c0001t0063 a0001c0001t0066 a0001c0002t0001 a0001c0002t0005 a0001c0002t0019 a0001c0002t0050 a0001c0004t0013 a0001c0004t0088 a0001c0005t0007 a0001c0005t0073 a0001c0007t0008 a0001c0007t0016 a0001c0009t0012 a0001c0009t0051 a0001c0010t0015 a0001c0010t0026 a0001c0016t0045 a0001c0044t0013 a0001c0046t0057 a0001c0052t0046 a0002c0028t0003 a0002c0029t0015 a0002c0031t0076 a0003c0003t0004 a0003c0003t0006 a0003c0003t0022 a0003c0003t0070 a0004c0011t0032 a0005c0058t0079 a0018c0062t0086	a0001c0001t0002g0049 a0001c0001t0008g0119 a0001c0001t0024g0068 others(37): Show a0001c0001t0002g0049 a0001c0001t0008g0119 a0001c0001t0024g0068 a0001c0001t0036g0140 a0001c0001t0038g0107 a0001c0001t0041g0022 a0001c0001t0063g0008 a0001c0001t0066g0009 a0001c0002t0001g0110 a0001c0002t0001g0125 a0001c0002t0005g0017 a0001c0002t0005g0141 a0001c0002t0019g0147 a0001c0002t0050g0102 a0001c0004t0013g0103 a0001c0004t0088g0051 a0001c0005t0007g0024 a0001c0005t0073g0039 a0001c0007t0008g0067 a0001c0007t0016g0055 a0001c0009t0012g0099 a0001c0009t0051g0090 a0001c0010t0015g0070 a0001c0010t0026g0060 a0001c0016t0045g0098 a0001c0044t0013g0106 a0001c0046t0057g0079 a0001c0052t0046g0091 a0002c0028t0003g0011 a0002c0029t0015g0071 a0002c0031t0076g0030 a0003c0003t0004g0112 a0003c0003t0004g0142 a0003c0003t0004g0145 a0003c0003t0006g0117 a0003c0003t0022g0006 a0003c0003t0070g0065 a0004c0011t0032g0136 a0005c0058t0079g0043 a0018c0062t0086g0144	40	156	0.2564	-111	c.466 others(19): Show c.466-42881_466-42771del	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245323953	GGGAGGTG others(104): Show GGGAGGTGGAGGTGGGGTGGGCCCTGCCATGGGTGGTGAGAGGTAGAGTT GGTGTGGACTCTGCCAGGGGTGGTTGGAGGTGGAGGTGGGGTGGACCCTG ATGTGGGTGGTT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG04115.hp2 NA19074.hp2 HG03453.hp2 HG04115.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0002 a0001c0001t0025 a0001c0016t0044 a0001c0001t0002 a0001c0001t0025 a0001c0016t0044	a0001c0001t0002g0020 a0001c0001t0025g0073 a0001c0016t0044g0129 a0001c0001t0002g0020 a0001c0001t0025g0073 a0001c0016t0044g0129	3	143	0.0210	-111	c.466 others(19): Show c.466-42772_466-42662del	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245324062	GTTGGAGG others(104): Show GTTGGAGGTGGAGGTGGGGTGGGCCCTGCCATGGGTGGTGAGAGGTAGAG TTGGTGTGGACTCTGCCAGGGGTGGTTGGAGGTGGAGGTGGGGTGGACCC TGATGTGGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01169.hp1 HG01243.hp1 others(2): Show HG01106.hp2 HG01169.hp1 HG01243.hp1 HG01978.hp2 HG06807.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0011c0036	a0001c0001t0008 a0001c0002t0077 a0001c0005t0010 others(1): Show a0001c0001t0008 a0001c0002t0077 a0001c0005t0010 a0011c0036t0011	a0001c0001t0008g0054 a0001c0002t0077g0063 a0001c0005t0010g0028 others(2): Show a0001c0001t0008g0054 a0001c0002t0077g0063 a0001c0005t0010g0028 a0001c0005t0010g0033 a0011c0036t0011g0137	5	160	0.0313	-111	c.466 others(19): Show c.466-42748_466-42638del	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLHDC4_chr16_87702812_87770986	87704353	CACAGGGA others(104): Show CACAGGGAAGGAGGCGCCTGGGGAGGGTCCTGAACATGACAGGGAAGGAG GCGCCTGGGGAGGGTCCTGAACGTCACGGGGAAGGAGGCGCCTGGGGAGG GTCCTGAACATG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	378	0.0026	-111	c.36 others(11): Show c.3613_*3723del	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding		3458		chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87704390	GACAGGGA others(104): Show GACAGGGAAGGAGGCGCCTGGGGAGGGTCCTGAACGTCACGGGGAAGGAG GCGCCTGGGGAGGGTCCTGAACATGACAGGGAAGGAGGCGCCTGGGGAGG GTCCTGAACGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA19057.hp1 NA18946.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0342 a0002c0002t0001g0343	2	378	0.0053	-111	c.35 others(11): Show c.3576_*3686del	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding		3421		chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87704393	AGGGAAGG others(104): Show AGGGAAGGAGGCGCCTGGGGAGGGTCCTGAACGTCACGGGGAAGGAGGCG CCTGGGGAGGGTCCTGAACATGACAGGGAAGGAGGCGCCTGGGGAGGGTC CTGAACGTCACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01081.hp2 HG02135.hp2 others(35): Show HG00408.hp1 HG01081.hp2 HG02135.hp2 HG02559.hp1 HG02615.hp1 HG02698.hp1 HG02896.hp2 HG03017.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03704.hp2 HG03834.hp2 NA18612.hp2 NA18747.hp2 NA18943.hp1 NA18951.hp1 NA18954.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18989.hp2 NA19002.hp2 NA19007.hp1 NA19057.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19079.hp1 NA19091.hp1 NA19240.hp1 NA20752.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0002c0002 a0002c0021 others(2): Show a0001c0001 a0002c0002 a0002c0021 a0006c0006 a0008c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0002c0002t0001 a0002c0021t0001 a0006c0006t0001 a0008c0009t0004	a0001c0001t0001g0238 a0001c0001t0001g0366 a0001c0001t0004g0034 others(34): Show a0001c0001t0001g0238 a0001c0001t0001g0366 a0001c0001t0004g0034 a0001c0001t0005g0001 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0101 a0002c0002t0001g0170 a0002c0002t0001g0264 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0345 a0002c0002t0001g0346 a0002c0002t0001g0347 a0002c0002t0001g0348 a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0002t0001g0352 a0002c0002t0001g0353 a0002c0002t0001g0355 a0002c0002t0001g0356 a0002c0002t0001g0358 a0002c0002t0001g0359 a0002c0002t0001g0361 a0002c0002t0001g0362 a0002c0002t0001g0363 a0002c0002t0001g0365 a0002c0021t0001g0329 a0006c0006t0001g0259 a0008c0009t0004g0035 a0008c0009t0004g0036	38	377	0.1008	-111	c.35 others(11): Show c.3573_*3683del	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding		3418		chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87704393	AGGGAAGG others(104): Show AGGGAAGGAGGCGCCTGGGGAGGGTCCTGAACGTCACGGGGAAGGAGGCG CCTGGGGAGGGTCCTGAACATGACAGGGAAGGAGGCGCCTGGGGAGGGTC CTGAACGTCACG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0354 a0002c0002t0001g0354	1	340	0.0029	-111	c.35 others(11): Show c.3574_*3684del	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding		3419		chr16	TogoVar
LMLN_chr3_197955217_198048720	198012662	CCCTAACT others(104): Show CCCTAACTAGTCTGACTTCTCTGTACCCTTCAGAGTCCCCTAACTAGTCT GCCTTCTCTGTACCCTTCAGAGCCCCCTAACTAGTCTGACTTCTCTGTAC CTTTCAGAGCCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03041.hp1 HG03130.hp1 others(2): Show HG02258.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0049 a0001c0001t0008 a0001c0001t0049	a0001c0001t0008g0086 a0001c0001t0008g0087 a0001c0001t0008g0088 others(2): Show a0001c0001t0008g0086 a0001c0001t0008g0087 a0001c0001t0008g0088 a0001c0001t0008g0092 a0001c0001t0049g0091	5	256	0.0195	-111	c.132 others(19): Show c.1320-6556_1320-6446del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198012845	TCCCCTAA others(104): Show TCCCCTAACTAGTCTGACTTCTCTGTACCCTTCAGAGTCCCCTAACTAGT CTGACTTCTCTGTACCCTTCAGAGTCCCCTAACTAGTCTGACTTCTCTGT ACCCTTCAGAGC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG02027.hp2 others(20): Show HG00423.hp2 HG00544.hp2 HG02027.hp2 HG02055.hp1 HG02486.hp2 HG02630.hp1 HG03017.hp1 HG03831.hp2 HG06807.hp1 NA18612.hp1 NA18940.hp2 NA18941.hp1 NA18951.hp1 NA18954.hp1 NA18968.hp2 NA18977.hp1 NA18992.hp2 NA19003.hp2 NA19007.hp1 NA19057.hp2 NA19066.hp2 NA19084.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0001t0034	a0001c0001t0003g0109 a0001c0001t0003g0112 a0001c0001t0003g0113 others(20): Show a0001c0001t0003g0109 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0004g0141 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0016g0048 a0001c0001t0016g0049 a0001c0001t0016g0050 a0001c0001t0034g0051	23	255	0.0902	-111	c.132 others(19): Show c.1320-6273_1320-6163del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198013173	TAGAGCCC others(104): Show TAGAGCCCCCTAACTAGTCTGACTTCTCTGTACCCTTCAGAGCCCCTTAA CTAGTCTGACTTCTCTGTACCCTTCAGAGTCCCCTAACTAGTCTGACTTC TCTGTACCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19043.hp1 HG03041.hp2 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0013 a0002c0002t0006 a0002c0002t0013	a0002c0002t0006g0027 a0002c0002t0013g0063 a0002c0002t0006g0027 a0002c0002t0013g0063	2	244	0.0082	-111	c.132 others(19): Show c.1320-6051_1320-5941del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198014288	TCCCCTAA others(104): Show TCCCCTAACTAGTCTGACTTCTCTCCACCCTTCAGAGCCCCCTAACTAGT CTGACTTCTCTCCACCCATCAGAGCCCCCTAACTAGTCTAACTTCTCTGT ATCCTTCAGAGC	T T	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	239	0.0042	-111	c.132 others(19): Show c.1320-4898_1320-4788del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRBA_chr4_150259435_151020284	150658625	CTCTGCCT others(104): Show CTCTGCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	178	0.0056	-111	c.592 others(21): Show c.5921+24815_5921+24925del	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
LRRC14B_chr5_186495_201334	200930	GCCCCCAT others(104): Show GCCCCCATCACAGCCAGCCAGCGTCTACACAGCAGGCTGCCCCCATCACA GCCAGCGTCTACACAGCAGGCTGCCCCCATCACAGCCAGCCAGTGTCTAC ACAGCAGGCTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG00733.hp2 others(46): Show HG00140.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01346.hp2 HG01891.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02109.hp1 HG02155.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03486.hp1 HG03669.hp2 HG06807.hp1 NA18906.hp2 NA18970.hp2 NA18985.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0006 a0001c0002t0012 a0001c0002t0027 a0001c0003t0009 a0001c0003t0014	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0033 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0002g0002 a0001c0001t0002g0030 a0001c0001t0003g0001 a0001c0002t0006g0003 a0001c0002t0012g0003 a0001c0002t0027g0015 a0001c0003t0009g0006 a0001c0003t0014g0006	49	468	0.1047	-111	c.55 others(11): Show c.5578_*5688del	LRRC14B	ENSG00000185028.4	transcript	ENST00000328278.4	protein_coding		4597		chr5	TogoVar
LRRC3_chr21_44450510_44467196	44465933	TCACTCTC others(104): Show TCACTCTCCCTGTACACACACGTGCATGCTCACTCTCCTTGTGCACACAC TCCCTGTACACACACACACACGCTCACTCTCCCTGTACACACACATTCTC CCTGTACACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG02451.hp1 HG02486.hp2 others(6): Show HG01496.hp2 HG02451.hp1 HG02486.hp2 HG02717.hp2 HG02809.hp1 HG02976.hp2 HG03041.hp1 HG03516.hp2 NA19043.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0030 a0002c0004t0031 others(1): Show a0002c0004t0012 a0002c0004t0030 a0002c0004t0031 a0002c0004t0032	a0002c0004t0012g0001 a0002c0004t0030g0001 a0002c0004t0031g0001 others(1): Show a0002c0004t0012g0001 a0002c0004t0030g0001 a0002c0004t0031g0001 a0002c0004t0032g0001	9	424	0.0212	-111	c.85 others(11): Show c.8516_*8626del	LRRC3	ENSG00000160233.8	transcript	ENST00000291592.6	protein_coding		3738		chr21	TogoVar
MACROD2_chr20_13990516_16058197	14831923	TGGGGATG others(104): Show TGGGGATGCATTCTGACTATATTGGGTCCCCTTGAGACCAGTGTTGCAAC CAAAAGAAGCAGAGAAGATGTAGTCCCTACCCTCCCGCACCTCGACTTCA TGCCTTTGCGAG	T T	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0023 a0002c0002t0008g0023	1	23	0.0435	-111	c.418 others(21): Show c.418+146965_418+147075del	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17			chr20	TogoVar
MAEA_chr4_1284891_1345137	1317118	TCCCACAC others(104): Show TCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAG ACTCACCTGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGG CTCACCCCAGCC	T T	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	341	0.0029	-111	c.456 others(17): Show c.456+1588_456+1698del	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP4K4_chr2_101692707_101899690	101785683	TCTCTCTC others(104): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0002 a0001c0001t0021g0002	1	308	0.0032	-111	c.124 others(17): Show c.124-5036_124-4926del	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32			chr2	TogoVar
MBOAT7_chr19_54168415_54194580	54172168	CCCTCCTC others(104): Show CCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCGGCTCCTCCTCCCTCA GACCCAGGAGTCCAGGCCCCCGGCTCCTCCTCCCTCAGACCCAGGAGTCC AGGCCCCCGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	174	0.0057	-111	c.17 others(11): Show c.1765_*1875del	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding		1246		chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54174622	GTCCCTCC others(104): Show GTCCCTCCTCCCTCAGACCCAGGAGACCAGACCCCACCTCCCTCCTCCCT CAGATCCAGGAGTCCAGACCCCACTTCCCTCCTCCCTCAGATCCAGGAGA CCAGACCCCACC	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp2 HG01928.hp2 others(7): Show HG00609.hp1 HG00673.hp2 HG01928.hp2 HG02129.hp1 NA18959.hp1 NA18961.hp1 NA18963.hp1 NA19009.hp2 NA19066.hp1 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0002c0004t0001 a0001c0002t0001 a0002c0004t0001	a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0002t0001g0075 others(7): Show a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0002t0001g0075 a0001c0002t0001g0160 a0001c0002t0001g0255 a0001c0002t0001g0273 a0001c0002t0001g0337 a0002c0004t0001g0066 a0002c0004t0001g0079 a0002c0004t0001g0258	10	372	0.0269	-111	c.103 others(17): Show c.1032-302_1032-192del	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	7/7			chr19	TogoVar
MEP1A_chr6_46788389_46844778	46824958	GATCTATT others(104): Show GATCTATTTAAATATATATAAATTATATATTTAAATAGATCTATTTAAGT ATATATAAATTATATATTTAAATAGATCTATTTAAATATTTATAAATTAT GTATTTAAATAA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01515.hp2 HG01516.hp1 others(1): Show HG00738.hp2 HG01515.hp2 HG01516.hp1 HG03654.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0014 a0003c0003t0003g0101 a0003c0003t0003g0108 a0003c0003t0003g0014 a0003c0003t0003g0101 a0003c0003t0003g0108	4	350	0.0114	-111	c.557 others(15): Show c.557-299_557-189del	MEP1A	ENSG00000112818.11	transcript	ENST00000230588.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
MGAM_chr7_141990879_142111747	142043162	CTATATTA others(104): Show CTATATTATATATACATATAATATCTAAATATAATATATATATTATATAT ACATATAATATCTAAATATAATATATATATTATATATACATATAATATCT AAATATAATATA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0011 a0011	a0011c0026 a0011c0026	a0011c0026t0001 a0011c0026t0001	a0011c0026t0001g0010 a0011c0026t0001g0010	1	218	0.0046	-111	c.249 others(19): Show c.2498+2390_2498+2500del	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142043347	CTATATTA others(104): Show CTATATTATATATACATATAATATCTAAATATAATATCTATATTATATAT ACATATAATATCTAAATATAATATCTATATTATATATACATATAATATCT AAATATAATATA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp2 HG01081.hp2 others(15): Show HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01517.hp1 HG01943.hp2 HG01978.hp2 HG02080.hp2 HG02683.hp2 HG02738.hp1 HG03017.hp2 HG03710.hp2 HG03927.hp2 HG04199.hp1 NA18950.hp2 NA18956.hp2 NA18969.hp1 NA18986.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0042 a0002c0016 a0002c0020	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0042t0001 a0002c0016t0001 a0002c0020t0001	a0001c0001t0001g0012 a0001c0001t0001g0151 a0001c0001t0001g0154 others(15): Show a0001c0001t0001g0012 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0194 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0002t0001g0105 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0178 a0001c0002t0001g0253 a0001c0002t0001g0273 a0001c0006t0001g0113 a0001c0006t0001g0174 a0001c0006t0001g0251 a0001c0042t0001g0035 a0002c0016t0001g0207 a0002c0020t0001g0128	18	283	0.0636	-111	c.249 others(19): Show c.2498+2538_2498+2648del	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MLPH_chr2_237482251_237560322	237544520	GTGGGGGG others(104): Show GTGGGGGGGGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGA CATTGTTTATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTG GTCAGTGGTGAT	G G	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19058.hp1 NA18944.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0037 a0001c0001 a0001c0037	a0001c0001t0002 a0001c0037t0001 a0001c0001t0002 a0001c0037t0001	a0001c0001t0002g0272 a0001c0037t0001g0221 a0001c0001t0002g0272 a0001c0037t0001g0221	2	284	0.0070	-111	c.153 others(19): Show c.1539+1866_1540-1971del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544525	GGGGGACA others(104): Show GGGGGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACATTG TTTATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTCAG TGGTGATTGGGC	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0114 a0003c0003t0001g0114	1	251	0.0040	-111	c.153 others(19): Show c.1539+1867_1540-1970del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MTM1_chrX_150563621_150678143	150583326	TAAATTAT others(104): Show TAAATTATATATATTATATATAATTATAAATATATATAAATTATATATAT TATATATAATATAATATATATAAATTATATATATTATATTATATATAATT ATAAATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	275	0.0036	-111	c.-10 others(17): Show c.-10-9220_-10-9110del	MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chrX	TogoVar

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