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
KCNMB2_chr3_178531436_178849429	178758165	G G	GATATATA others(307): Show GATATATATATATATATATATCCAAGAGGATATATATATATATATATATC CAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATA TATCCAAGAGGATATATATATATATATATATATCCAAGAGGATATATATA TATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATA TATATATATATATATATCCAAGAGGATATATATATATATATATATCCAAG AGGATATATATATATATATATATCCAAGAGGATATATATATATATATATA TCCAAGAGGATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0122 a0001c0001t0004g0122	1	63	0.0159	314	c.-67 others(333): Show c.-67-49162_-67-49161insATATCCAAGAGGATATATATATATAT ATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATAT ATATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGAT ATATATATATATATATATCCAAGAGGATATATATATATATATATATCCAA GAGGATATATATATATATATATATCCAAGAGGATATATATATATATATAT ATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATAT ATATATATCCAAGAGGATATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758165	G G	GATATATA others(307): Show GATATATATATATATATATCCAAGAGGATATATATATATATATATATATC CAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATATA TATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATA TATATATATCCAAGAGGATATATATATATATATATATATCCAAGAGGATA TATATATATATATATATATCCAAGAGGATATATATATATATATATATCCA AGAGGATATATATATATATATATATCCAAGAGGATATATATATATATATA TATCCAAGAGGATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	63	0.0159	314	c.-67 others(333): Show c.-67-49162_-67-49161insATCCAAGAGGATATATATATATATAT ATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATAT ATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATAT ATATATATATATATATCCAAGAGGATATATATATATATATATATATCCAA GAGGATATATATATATATATATATATCCAAGAGGATATATATATATATAT ATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATAT ATATATATATCCAAGAGGATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIAA0825_chr5_94145851_94623604	94608454	T T	TATATATA others(307): Show TATATATATATTATATATATATATTATATATATAATATATATTATATATA TAATATATATATTATATATATAAAATATATATATTATATATATAATATAT ATTATATATATAATATATATATTTTATATATATTATATATAAAATATATA TATTATATATATAATATATATTATATATATAATATATATATTTTATATAT ATAATATATATTATATATATAATATATATATTATATATAATATATATTAT ATATATAAAATATATATAATATATATAATATATATTATATATATAATATA TGTATTATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0050 a0001c0013t0001g0050	1	30	0.0333	314	c.-15 others(335): Show c.-153+10045_-153+10046insTATATATATAATACATATATTATA TATATAATATATATTATATATATTATATATATTTTATATATATAATATAT ATTATATATAATATATATATTATATATATAATATATATTATATATATAAA ATATATATATTATATATATAATATATATTATATATATAATATATATATTT TATATATAATATATATAAAATATATATATTATATATATAATATATATTAT ATATATAATATATATATTTTATATATATAATATATATATTATATATATAA TATATATTATATATATAATATATATATATAATATATATAT	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	1/20			chr5	TogoVar
KIAA0825_chr5_94145851_94623604	94608454	T T	TATATATA others(307): Show TATATATATATTATATATATATATTATATATATAATATATATTATATATA TAATATATATATTATATATATAAAATATATATATTATATATATAATATAT ATTATATATATAATATATATATTTTATATATATTATATATATAAAATATA TATATTATATATATAATATATATTATATATAATATATATATTTTATATAT ATAATATATATTATATATATAATATATATATTATATATAATATATATTAT ATATATAAAATATATATAATATATATAATATATATTATATATATAATATA TGTATTATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG01261.hp1 HG00639.hp2 HG00642.hp2 HG01261.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0002 a0001c0001 a0001c0007 a0003c0002	a0001c0001t0025 a0001c0007t0004 a0003c0002t0002 a0001c0001t0025 a0001c0007t0004 a0003c0002t0002	a0001c0001t0025g0049 a0001c0007t0004g0048 a0003c0002t0002g0047 a0001c0001t0025g0049 a0001c0007t0004g0048 a0003c0002t0002g0047	3	32	0.0938	314	c.-15 others(335): Show c.-153+10045_-153+10046insTATATATATAATACATATATTATA TATATAATATATATTATATATATTATATATATTTTATATATATAATATAT ATTATATATAATATATATATTATATATATAATATATATTATATATATAAA ATATATATATTATATATAATATATATTATATATATAATATATATATTTTA TATATATAATATATATAAAATATATATATTATATATATAATATATATTAT ATATATAATATATATATTTTATATATATAATATATATATTATATATATAA TATATATTATATATATAATATATATATATAATATATATAT	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	1/20			chr5	TogoVar
KIF14_chr1_200546500_200625751	200607057	T T	TAAAAAAC others(307): Show TAAAAAACTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCG GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCTACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00544.hp2 others(76): Show HG00280.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00735.hp1 HG01099.hp2 HG01346.hp2 HG01884.hp1 HG01943.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02074.hp2 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02280.hp1 HG02293.hp1 HG02602.hp1 HG02615.hp1 HG02698.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03225.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18941.hp1 NA18945.hp1 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18963.hp2 NA18965.hp1 NA18971.hp2 NA18982.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA19003.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp2 NA19077.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA20300.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0020 others(1): Show a0001c0001 a0001c0004 a0001c0020 a0005c0010	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0021 a0001c0001t0024 a0001c0001t0028 a0001c0004t0040 a0001c0020t0001 a0005c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 others(67): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0001t0005g0193 a0001c0001t0011g0306 a0001c0001t0021g0023 a0001c0001t0024g0230 a0001c0001t0028g0049 a0001c0004t0040g0350 a0001c0020t0001g0220 a0005c0010t0001g0236 a0005c0010t0001g0237	79	342	0.2310	314	c.155 others(331): Show c.1555-260_1555-259insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTAGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAGCAGTTTTTT	KIF14	ENSG00000118193.12	transcript	ENST00000367350.5	protein_coding	5/29			chr1	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(307): Show CGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCT GCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGG CGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACG GCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAA CGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGG AACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGTGGGGGCG GGAACGGCGCTGCGG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0029 a0001c0003t0029	a0001c0003t0029g0327 a0001c0003t0029g0327	1	285	0.0035	314	c.317 others(331): Show c.317+1438_317+1439insGCGGGAACGGCGCTGCGGGGCGGGGGGG CGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGG GGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGG GCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGTGGGGGCGGGAACGGCGCTGCGGGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(307): Show CGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGC TGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACG GCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACG GCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAAC GGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGG AACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGTGGGGGCG GGAACGGCGCTGCGG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0029 a0001c0003t0029	a0001c0003t0029g0349 a0001c0003t0029g0349	1	285	0.0035	314	c.317 others(331): Show c.317+1438_317+1439insGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGG GGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGTGGGGGCGGGAACGGCGCTGCGGGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(307): Show CGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGC TGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACG GCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAAC GGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAA CGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGA ACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGTGGGGGCGG GGAACGGCGCTGCGG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0031 a0001c0003t0004g0031	1	285	0.0035	314	c.317 others(331): Show c.317+1438_317+1439insGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGG GGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGC GGGGTGGGGGCGGGGAACGGCGCTGCGGGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(307): Show CGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGC TGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAAC GGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAAC GGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAA CGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGG AACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGTGGGGGCG GGAACGGCGCTGCGG	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0045 a0001c0003t0004g0045	1	285	0.0035	314	c.317 others(331): Show c.317+1438_317+1439insGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGG GGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGG GCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGTGGGGGCGGGAACGGCGCTGCGGGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035469	G G	GGCGGGAA others(307): Show GGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGC GGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGC GGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCT GCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGCGCGGCGGGCTGCGGG GGGGGGCGGGAACGGCGCTGCGGGCGGGGGGGCGGGAACGGCGCTGCGGG GCGGGGGGGGCGGGAACGGCGCTGCGGGGGTGGGGGGCGGGGGAACGGCG CTGCGGGGGGGGGGC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0061 a0001c0003t0004g0061	1	374	0.0027	314	c.317 others(331): Show c.317+1438_317+1439insGCGGGAACGGCGCTGCGGGGCGGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCG GGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGG GGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGC GGGGGCGCGGCGGGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGCGGGG GGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGG GTGGGGGGCGGGGGAACGGCGCTGCGGGGGGGGGGC	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12			chr6	TogoVar
KIF26B_chr1_245149985_245714432	245600127	T T	TTCCCGGG others(307): Show TTCCCGGGTTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTATAGAG GGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCCCGACCTCAGATG ATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAGGCTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCACTCTGTCGCCCAGGCTGGAGCGCAGTGGTGCGATCTCAGCTC ACTGCAAGCTCCGCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01978.hp1 NA19002.hp2 HG00639.hp2 HG01978.hp1 NA19002.hp2	a0002 a0005 a0002 a0005	a0002c0025 a0005c0017 a0005c0058 a0002c0025 a0005c0017 a0005c0058	a0002c0025t0056 a0005c0017t0002 a0005c0058t0079 a0002c0025t0056 a0005c0017t0002 a0005c0058t0079	a0002c0025t0056g0057 a0005c0017t0002g0045 a0005c0058t0079g0043 a0002c0025t0056g0057 a0005c0017t0002g0045 a0005c0058t0079g0043	3	78	0.0385	314	c.135 others(333): Show c.1351-2439_1351-2438insACCGATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATT TTTAGTATAGAGGGGGTTTCTCCATGTTGATCAGGCTGGTCTCGACCTCC CGACCTCAGATGATCTCCCGCCTCGGCCTCCCAAAGTGCTAGGATTATAG GCTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGCGCAGTGGTG CGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLF7_chr2_207069137_207170948	207112164	T T	TGGGCAAA others(307): Show TGGGCAAATGCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0137 a0001c0001t0014g0137	1	173	0.0058	314	c.733 others(333): Show c.733+11609_733+11610insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCAACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAGCATTTGCCC	KLF7	ENSG00000118263.16	transcript	ENST00000309446.11	protein_coding	2/3			chr2	TogoVar
KRT81_chr12_52280913_52296534	52291701	T T	TAAAAGAT others(307): Show TAAAAGATGTCAGTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18969.hp2 NA18983.hp1 others(1): Show NA18966.hp2 NA18969.hp2 NA18983.hp1 NA19010.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0004 a0003c0004t0001g0004	4	410	0.0098	314	c.-23 others(323): Show c.-237_-236insTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGT CGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGC CCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCAAGACTGACATCTTTT	KRT81	ENSG00000205426.11	transcript	ENST00000327741.9	protein_coding		168		chr12	TogoVar
KRT86_chr12_52269645_52314163	52291701	T T	TAAAAGAT others(307): Show TAAAAGATGTCAGTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18969.hp1 NA18983.hp1 others(1): Show NA18966.hp1 NA18969.hp1 NA18983.hp1 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0208 a0001c0002t0001g0218 a0001c0002t0001g0043 a0001c0002t0001g0208 a0001c0002t0001g0218	4	378	0.0106	314	c.-4- others(331): Show c.-4-10194_-4-10193insCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGC CGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAGATGTCAGTCTTGG	KRT86	ENSG00000170442.12	transcript	ENST00000423955.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
L1TD1_chr1_62189849_62217328	62192159	T T	TAATTTTT others(307): Show TAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCT GGGACTACAGGCGCGCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0011 a0006c0011t0011	a0006c0011t0011g0271 a0006c0011t0011g0271	1	406	0.0025	314	c.-29 others(325): Show c.-2967_-2966insAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGTGTAGCTGGGACTACAGGCGCGCGCCACCACGCCCAGCTAAT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCC	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding		2689		chr1	TogoVar
L1TD1_chr1_62189849_62217328	62192159	T T	TAATTTTT others(307): Show TAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCT GGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01515.hp2 HG01517.hp2 HG00323.hp1 HG01515.hp2 HG01517.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0011 a0006c0011t0026 a0006c0011t0011 a0006c0011t0026	a0006c0011t0011g0023 a0006c0011t0026g0023 a0006c0011t0011g0023 a0006c0011t0026g0023	3	408	0.0074	314	c.-29 others(325): Show c.-2967_-2966insAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGTGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAAT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCC	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding		2689		chr1	TogoVar
LDAF1_chr16_21153674_21185616	21177331	A A	AGTGATAG others(307): Show AGTGATAGTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT TCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACACCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02896.hp1 HG02897.hp2 HG02615.hp1 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0049 a0001c0001t0005g0177 a0001c0001t0005g0049 a0001c0001t0005g0177	3	386	0.0078	314	c.405 others(331): Show c.405-2131_405-2130insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTTCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACACCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGTGATAGTTTCTT	LDAF1	ENSG00000011638.11	transcript	ENST00000233047.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
LINGO2_chr9_27932617_29218601	28960606	G G	GAAATATG others(307): Show GAAATATGTATAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAAT TAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 NA19043.hp1 HG02895.hp2 HG02897.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0006 a0001c0001t0012	a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0012g0005 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0012g0005	3	62	0.0484	314	c.-49 others(335): Show c.-491-12693_-491-12692insTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCCCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCAATTATACATATTT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	1/6			chr9	TogoVar
LRIT2_chr10_84215571_84230544	84223487	G G	GTTAATTG others(307): Show GTTAATTGGGTATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0051 a0004c0004t0004g0051	1	313	0.0032	314	c.893 others(329): Show c.893-808_893-807insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAATACCCAATTAA	LRIT2	ENSG00000204033.10	transcript	ENST00000372113.7	protein_coding	2/2			chr10	TogoVar
LRP2_chr2_169122109_169367534	169179812	T T	TAAAAATC others(307): Show TAAAAATCTATTGCGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0075 a0001c0075	a0001c0075t0001 a0001c0075t0001	a0001c0075t0001g0084 a0001c0075t0001g0084	1	192	0.0052	314	c.101 others(335): Show c.10169+1635_10169+1636insTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCATGAGCCACCGCGCCCGGCCGCAATAGATTTTT	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	52/78			chr2	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCGCTTAC others(307): Show CCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0054 a0002c0003t0054	a0002c0003t0054g0068 a0002c0003t0054g0068	1	6	0.1667	314	c.368 others(331): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC4C_chr11_40109209_41464652	40472454	T T	TAAAGAAG others(307): Show TAAAGAAGTGTTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02622.hp2 HG02717.hp1 others(3): Show HG01261.hp1 HG02622.hp2 HG02717.hp1 HG02965.hp1 HG03540.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0047 others(3): Show a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0002g0016 a0001c0001t0002g0032 a0001c0002t0001g0024	6	30	0.2000	314	c.-26 others(337): Show c.-269-152734_-269-152733insTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTAAACACTTCTTT	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	3/6			chr11	TogoVar
LUC7L_chr16_183990_234449	186119	G G	GGGAACAG others(307): Show GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAG CGACACGGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	310	0.0032	314	c.30 others(325): Show c.3078_*3079insTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTT CCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTT CCCTCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCT GTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2870		chr16	TogoVar
LUC7L_chr16_183990_234449	186374	G G	GGAGGAAC others(307): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGTCACGGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGA GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG AGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	301	0.0033	314	c.28 others(325): Show c.2823_*2824insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCT CCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCGTGACGCTG TTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2615		chr16	TogoVar
LUC7L_chr16_183990_234449	186408	G G	GGAGGAAC others(307): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGAGGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGAGGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAG GGAACAGCGACACGGGGGAGGAACAGCGACACGGAGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	294	0.0034	314	c.27 others(325): Show c.2789_*2790insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCG TGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCCCCGTGTCGCTGTTC CCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2581		chr16	TogoVar
LUC7L_chr16_183990_234449	186680	G G	GGAGGAAC others(307): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGTCACGGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGA GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG AGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	307	0.0033	314	c.25 others(325): Show c.2517_*2518insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCT CCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCGTGACGCTG TTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2309		chr16	TogoVar
LYPD8_chr1_248734415_248760759	248742682	C C	TGCTCTGG others(307): Show TGCTCTGGTGGGGATGTTGGCAGCGGGGAGATTATGCTCTGGTGGGGATG TTGGCAGCCGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCGGGGGAG GTTATGCTCTGGTGGGGATGTTGGCAGCCAGGGAGATTATGCTCTGGTGG GGATGTTGGCAGCGGGGGAGGTTACGCTCTGGTGGGGATGTTGGCAGCCG GGGAGATTACGCTCTGGTGGGGATGTTGGCAGCGGGGGAGATTATGCTCT GGTGGGGATGTTGGCAGCGGGGGAGATTATGCTCTGGTGGGGATGTTGGC AGCCGGGGAGATTAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	325	0.0031	314	c.475 others(331): Show c.475+2460_475+2461insTAATCTCCCCGGCTGCCAACATCCCCAC CAGAGCATAATCTCCCCCGCTGCCAACATCCCCACCAGAGCATAATCTCC CCCGCTGCCAACATCCCCACCAGAGCGTAATCTCCCCGGCTGCCAACATC CCCACCAGAGCGTAACCTCCCCCGCTGCCAACATCCCCACCAGAGCATAA TCTCCCTGGCTGCCAACATCCCCACCAGAGCATAACCTCCCCCGCTGCCA ACATCCCCACCAGAGCATAATCTCCCCGGCTGCCAACATCCCCACCAGAG CATAATCTCCCCGCTGCCAACATCCCCACCAGAGCA	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
MAN2B2_chr4_6570189_6628362	6579135	C C	CCATCACC others(307): Show CCATCACCACCACCACCCTTCACCACCATCACCACCACCACCATCACCAC CACCATCACCATCACCACCACCATCACCACCACCACCACCATCACCACCA CCACCACCACCACCATCACCATCACCACCACCATCACCATCACCACCACC ACCACTACCCTTCACCATCACCACCACCACCACCATCACCATCACCACCA CCATCCACCATCACCACCACCCTTCACCATCACCACCACCCTTCACCACC ACAATGACCATCACTACCACTACCATCACCACCACCACCACGATGACCAT CACTACCACTACCAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0023 a0023	a0023c0066 a0023c0066	a0023c0066t0002 a0023c0066t0002	a0023c0066t0002g0206 a0023c0066t0002g0206	1	342	0.0029	314	c.391 others(329): Show c.391+639_391+640insTCACCACCACCACCCTTCACCACCATCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCATCACCACCAC CACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCACCA TCACCATCACCACCACCACCACTACCCTTCACCATCACCACCACCACCAC CATCACCATCACCACCACCATCCACCATCACCACCACCCTTCACCATCAC CACCACCCTTCACCACCACAATGACCATCACTACCACTACCATCACCACC ACCACCACGATGACCATCACTACCACTACCATCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K21_chr1_233322724_233390148	233383384	T T	TAAAAGCT others(307): Show TAAAAGCTTTACTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAA AAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0053 a0002c0002t0053	a0002c0002t0053g0019 a0002c0002t0053g0019	1	268	0.0037	314	c.68 others(323): Show c.687_*688insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAA AAAAAAAAAAAAAAAAAAGCTTTACTGA	MAP3K21	ENSG00000143674.11	transcript	ENST00000366624.8	protein_coding	10/10	688	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K3_chr17_63617417_63701305	63654315	A A	ACAGTACG others(307): Show ACAGTACGTGACCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGGCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0151 a0001c0003t0003g0152	2	113	0.0177	314	c.267 others(331): Show c.267+1677_267+1678insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGGCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCAGTACGTGACCTTTTTT	MAP3K3	ENSG00000198909.8	transcript	ENST00000361733.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAP3K3_chr17_63617417_63701305	63654315	A A	ACAGTACG others(307): Show ACAGTACGTGACCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGGCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0027 a0001c0003t0003g0027	1	112	0.0089	314	c.267 others(331): Show c.267+1677_267+1678insTTTTTTTTTTTTTTTTGAGACGGAGTCT TGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGGCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCAGTACGTGACCTTTTTT	MAP3K3	ENSG00000198909.8	transcript	ENST00000361733.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
MARCHF1_chr4_163519718_164389019	163894956	T T	TATATATA others(307): Show TATATATATATGCATGTGATGCATATATATATATGCATGTGATGCATATA TATATATGCATGTGATGCATATATATATGCATGTGATGCATATATATATA TGCATGTGATGCATATATATATATGCATGTGATGCATATATATATATGCA TGTGATGCATATATATATATGCATGTGATGCATATATATATATGCATGTG ATGCATATATATATATGCATGTGATGCATATATATATATGCATGTGATGC ATATATATATGCATGTGATGCATATATATATATGCATGTGATGCATATAT ATATGCATGTGATGC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0062 a0001c0001t0010g0062	1	79	0.0127	314	c.-38 others(333): Show c.-38-40788_-38-40787insGCATCACATGCATATATATATGCATC ACATGCATATATATATATGCATCACATGCATATATATATGCATCACATGC ATATATATATATGCATCACATGCATATATATATATGCATCACATGCATAT ATATATATGCATCACATGCATATATATATATGCATCACATGCATATATAT ATATGCATCACATGCATATATATATATGCATCACATGCATATATATATAT GCATCACATGCATATATATATGCATCACATGCATATATATATATGCATCA CATGCATATATATATATGCATCACATGCATATATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164124111	C C	CAAAAGAA others(307): Show CAAAAGAAGACATACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0101 a0001c0001t0025g0101	1	94	0.0106	314	c.-32 others(335): Show c.-322-12450_-322-12449insTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTGTATGTCTTCTTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF6_chr5_10348695_10445388	10422715	T T	TAAAGAAA others(307): Show TAAAGAAATGGGAACATTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02559.hp2 HG02622.hp1 others(2): Show HG01358.hp2 HG02559.hp2 HG02622.hp1 HG02647.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0018 a0001c0002t0004 a0001c0002t0018	a0001c0002t0004g0108 a0001c0002t0004g0111 a0001c0002t0004g0112 others(2): Show a0001c0002t0004g0108 a0001c0002t0004g0111 a0001c0002t0004g0112 a0001c0002t0004g0123 a0001c0002t0018g0122	5	267	0.0187	314	c.228 others(333): Show c.2284-1002_2284-1001insAGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAGAAATGGGAACATTG	MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	22/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
MARK1_chr1_220523136_220669461	220576004	T T	TCTCCCTC others(307): Show TCTCCCTCCCTCCCCCTCCCTCCCTCCCTCCTTCCCCCCTCCCCCCTTTC CCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCCTCCTTC CCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTTCCTCCCTCCCTCCCT CCCTCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTCCCTCCT ACTTCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTCCTTCCC TCTTCCTTCCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCTTCT TTCCTTCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	3	0.3333	314	c.52- others(329): Show c.52-3337_52-3336insCCTCCCTCCCTCCCTCCTTCCCCCCTCCCC CCTTTCCCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCC TCCTTCCCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTTCCTCCCTCC CTCCCTCCCTCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTC CCTCCTACTTCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTC CTTCCCTCTTCCTTCCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTT TCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTCCC	MARK1	ENSG00000116141.17	transcript	ENST00000366917.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
MARK1_chr1_220523136_220669461	220576004	T T	TCTCCCTC others(307): Show TCTCCCTCCCTCCCCCTCCCTCCCTCCCTCCTTCCCCCCTCCCCCCTTTC CCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCCTCCTTC CCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTTCCTCCCTCCCTCCCT CCCTCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTCCCTCCT ACTTCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTCCTTCCC TCTTCCTTCCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCTTCT TTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(138): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02080.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18964.hp2 NA18965.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18977.hp2 NA18980.hp2 NA18982.hp2 NA18985.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19011.hp2 NA19057.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0003t0001 a0001c0005t0001 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(135): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0150 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0260 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0114 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0004g0224 a0001c0001t0006g0076 a0001c0001t0006g0077 a0001c0001t0007g0254 a0001c0001t0008g0261 a0001c0001t0012g0149 a0001c0001t0013g0048 a0001c0001t0014g0037 a0001c0003t0001g0238 a0001c0003t0001g0239 a0001c0005t0001g0044 a0002c0002t0001g0010 a0002c0002t0001g0013	141	143	0.9860	314	c.52- others(329): Show c.52-3337_52-3336insCCTCCCTCCCTCCCTCCTTCCCCCCTCCCC CCTTTCCCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCC TCCTTCCCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTTCCTCCCTCC CTCCCTCCCTCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTC CCTCCTACTTCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTC CTTCCCTCTTCCTTCCTTCTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTT TCTTCTTTCCTTCCTTCCTTCCTCCCTCCCTCCC	MARK1	ENSG00000116141.17	transcript	ENST00000366917.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
MARK1_chr1_220523136_220669461	220576004	T T	TCTCCCTC others(307): Show TCTCCCTCCCTCCCCCTCCCTCCCTCCCTCCTTCCCCCCTCCCCCCTTTC CCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCCTCCTTC CCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTTCCTCCCTCCCTCCCT CCCTCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTCCCTCCT ACTTCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTCCTTCCC TCTTCCTTCCTTTTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTTCTTCT TTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00438.hp2 others(11): Show HG00280.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG01934.hp1 HG02074.hp2 HG02155.hp2 HG02602.hp2 NA18943.hp1 NA18953.hp2 NA18957.hp1 NA18998.hp1 NA19003.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0051 a0001c0001t0001g0053 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065	14	16	0.8750	314	c.52- others(329): Show c.52-3337_52-3336insCCTCCCTCCCTCCCTCCTTCCCCCCTCCCC CCTTTCCCCCTTCCCTCCTTCCCTCCTTCCCACCTCCTTTCCTCCTTCCC TCCTTCCCTCCTCCTTCTCCCCTTCCTGTCCTTCCTTCCTTCCTCCCTCC CTCCCTCCCTCCTTCCCTCCTTCCCTCCTCTTTCTCTCCTTTCCTCCTTC CCTCCTACTTCTCTCCTTCCTTCCCTCCTCCTTCTCTCCTTCCTTCCCTC CTTCCCTCTTCCTTCCTTTTTTCCTTCCTTCCTTCCCTCCCTCCTTCCTT TCTTCTTTCCTTCCTTCCTTCCTCCCTCCCTCCC	MARK1	ENSG00000116141.17	transcript	ENST00000366917.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
MBNL2_chr13_97217333_97399120	97285762	T T	TTTATCAA others(307): Show TTTATCAACTGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0198 a0001c0001t0004g0198	1	251	0.0040	314	c.174 others(331): Show c.174+9365_174+9366insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTTATCAACTGCT	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBP_chr18_76973833_77137783	77044931	G G	GCCGGGCG others(307): Show GCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG04204.hp2 HG02015.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0047 a0001c0002t0006 a0001c0001t0047 a0001c0002t0006	a0001c0001t0047g0332 a0001c0002t0006g0292 a0001c0001t0047g0332 a0001c0002t0006g0292	2	310	0.0065	314	c.139 others(333): Show c.139+21366_139+21367insTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTG GCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCT CCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77044931	G G	GCCGGGCG others(307): Show GCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG03041.hp1 others(2): Show HG01891.hp1 HG02055.hp1 HG03041.hp1 HG03139.hp1 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0009 a0001c0001t0032 a0001c0001t0044 others(2): Show a0001c0001t0009 a0001c0001t0032 a0001c0001t0044 a0001c0002t0001 a0003c0004t0011	a0001c0001t0009g0214 a0001c0001t0032g0172 a0001c0001t0044g0298 others(2): Show a0001c0001t0009g0214 a0001c0001t0032g0172 a0001c0001t0044g0298 a0001c0002t0001g0170 a0003c0004t0011g0162	5	313	0.0160	314	c.139 others(333): Show c.139+21366_139+21367insTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCACCCAGGTCGGACTGCGGACTGCAGTG GCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCT CCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MCHR2_chr6_99913519_99999223	99959609	T T	TAAAACAA others(307): Show TAAAACAATACAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGCGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCTGCCTGGGCGACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	185	0.0054	314	c.-27 others(331): Show c.-27-3436_-27-3435insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTGTCGCCCAGGCAGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCGCCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTCCTGTATTGTTTT	MCHR2	ENSG00000152034.11	transcript	ENST00000281806.7	protein_coding	1/5			chr6	TogoVar
MCHR2_chr6_99913519_99999223	99959609	T T	TAAAACAA others(307): Show TAAAACAATACAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGAGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCTGCCTGGGCGACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG03195.hp2 others(3): Show HG02145.hp1 HG02145.hp2 HG03195.hp2 HG03710.hp1 HG04115.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 others(2): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0028 a0001c0002t0006	a0001c0001t0006g0242 a0001c0001t0009g0075 a0001c0001t0011g0280 others(3): Show a0001c0001t0006g0242 a0001c0001t0009g0075 a0001c0001t0011g0280 a0001c0001t0028g0198 a0001c0002t0006g0180 a0001c0002t0006g0240	6	190	0.0316	314	c.-27 others(331): Show c.-27-3436_-27-3435insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTGTCGCCCAGGCAGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCTGCCACCTCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTCCTGTATTGTTTT	MCHR2	ENSG00000152034.11	transcript	ENST00000281806.7	protein_coding	1/5			chr6	TogoVar
MCHR2_chr6_99913519_99999223	99959609	T T	TAAAACAA others(307): Show TAAAACAATACAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCTGCCTGGGCGACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG01106.hp2 others(12): Show HG00438.hp1 HG00438.hp2 HG01106.hp2 HG01975.hp2 HG02135.hp1 HG02486.hp1 HG03017.hp1 HG03516.hp1 HG03927.hp2 HG06807.hp1 NA18979.hp2 NA18992.hp2 NA19012.hp2 NA19058.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0030 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0030 a0001c0001t0031	a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0098 others(12): Show a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0151 a0001c0001t0001g0194 a0001c0001t0005g0069 a0001c0001t0030g0227 a0001c0001t0031g0243	15	199	0.0754	314	c.-27 others(331): Show c.-27-3436_-27-3435insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTGTCGCCCAGGCAGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTCCTGTATTGTTTT	MCHR2	ENSG00000152034.11	transcript	ENST00000281806.7	protein_coding	1/5			chr6	TogoVar
MEGF6_chr1_3482951_3616508	3590825	A A	AGGGCCCT others(307): Show AGGGCCCTCTAAAGAGTGAGCGTCTGTCCTGCACAGGGCCCTCTAAAGAG TGAGCGTCTGTCCTGCACAGGGGCCGTGTAAAGAGTGAGCGTCTGTCCTG CACAGGGGCCCTCTAAAGAGTGAGCGTCTGTCCTGCACAGGGGCCGTGTA AAGAGTGAGCGTCTGTCCTGCACAGGGGCCCTCTAAAGAGTGAGCGTCTG TCCTGCACAGGGGCCGTGTAAAGAGTGAGCGTCTGTCCTGCACAGGGGCC CTCTAAAGAGTGAGCGTCTGTCCTGCACAGGGGCCGTGTAAAGAGTGAGC GTCTGTCCTGCACAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02602.hp2 NA18944.hp1 others(6): Show HG00323.hp1 HG02602.hp2 NA18944.hp1 NA18999.hp2 NA19007.hp2 NA19057.hp2 NA19065.hp1 NA19067.hp1 NA19091.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0011 a0014 a0016 a0096	a0001c0007 a0002c0002 a0004c0004 others(4): Show a0001c0007 a0002c0002 a0004c0004 a0011c0011 a0014c0012 a0016c0014 a0096c0059	a0001c0007t0020 a0002c0002t0001 a0004c0004t0021 others(4): Show a0001c0007t0020 a0002c0002t0001 a0004c0004t0021 a0011c0011t0001 a0014c0012t0002 a0016c0014t0001 a0096c0059t0003	a0001c0007t0020g0281 a0002c0002t0001g0076 a0004c0004t0021g0057 others(6): Show a0001c0007t0020g0281 a0002c0002t0001g0076 a0004c0004t0021g0057 a0011c0011t0001g0067 a0011c0011t0001g0078 a0014c0012t0002g0207 a0016c0014t0001g0073 a0016c0014t0001g0074 a0096c0059t0003g0079	9	290	0.0310	314	c.376 others(331): Show c.376+4512_376+4513insCTGTGCAGGACAGACGCTCACTCTTTAC ACGGCCCCTGTGCAGGACAGACGCTCACTCTTTAGAGGGCCCCTGTGCAG GACAGACGCTCACTCTTTACACGGCCCCTGTGCAGGACAGACGCTCACTC TTTAGAGGGCCCCTGTGCAGGACAGACGCTCACTCTTTACACGGCCCCTG TGCAGGACAGACGCTCACTCTTTAGAGGGCCCCTGTGCAGGACAGACGCT CACTCTTTACACGGCCCCTGTGCAGGACAGACGCTCACTCTTTAGAGGGC CCTGTGCAGGACAGACGCTCACTCTTTAGAGGGCCC	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
METRNL_chr17_83074609_83100122	83090443	C C	CCCGCCCC others(307): Show CCCGCCCCACACACACACCCCCCGCCCCACACACACACACACCCCCCCCC ACACACACCCCGCCCCGCCCCAGGGTGGGAGCCACACACCCCCGCCCTGC CCCAGGGTGGGAGCCACACACACCCCCGCCCCACACACACACACCCCCGC CCCGCCCCAGGGTGGGAGCCACACACACCCCCGCCCCACACACACACACC CCCGCCCCACACACACACACCCCCGCCCCACACACACACACCCCCGCCCC GCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTG GGAGCCACACACACA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19055.hp1 NA18995.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	2	362	0.0055	314	c.557 others(331): Show c.557-2722_557-2721insGCCCCACACACACACCCCCCGCCCCACA CACACACACACCCCCCCCCACACACACCCCGCCCCGCCCCAGGGTGGGAG CCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACCCCCGCCC CACACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACCCC CGCCCCACACACACACACCCCCGCCCCACACACACACACCCCCGCCCCAC ACACACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCC CACCCCCCGCCCCAGGGTGGGAGCCACACACACACC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76952974	G G	GCTAATTT others(307): Show GCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGC TCTTTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTCAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01106.hp1 HG01978.hp1 others(3): Show HG01069.hp2 HG01106.hp1 HG01978.hp1 HG03540.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0056 others(1): Show a0001c0001 a0001c0005 a0001c0056 a0002c0002	a0001c0001t0008 a0001c0005t0008 a0001c0056t0008 others(2): Show a0001c0001t0008 a0001c0005t0008 a0001c0056t0008 a0002c0002t0008 a0002c0002t0016	a0001c0001t0008g0106 a0001c0005t0008g0263 a0001c0056t0008g0107 others(3): Show a0001c0001t0008g0106 a0001c0005t0008g0263 a0001c0056t0008g0107 a0002c0002t0008g0012 a0002c0002t0008g0047 a0002c0002t0016g0097	6	249	0.0241	314	c.41 others(325): Show c.4136_*4137insCTAATTTTTGTATTTTTTTTTTTTTTTTTTTTTT GAGACAGAGTCTCGCTCTTTTGCCCAGGCTGGAGTGCAGTGGCGCGATCT CTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAAT TTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding		2582		chr17	TogoVar
MLKL_chr16_74666855_74705862	74687794	A A	AAGTAGCT others(307): Show AAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCTGGCTATTTTTTTTT GCGATGGAGTCTTGCTCTGTCAAGCAGGCTGGAGTGCAGTGGCGTGATCT CAGGTCACTGCAAGCTCTGCCTCTCAGGTTCACACCATTCTCCTGCCTCA GCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCTGGCTATT TTTTTTTGCGATGGAGTCTTGCTCTGTCAAGCAGGCTGGAGTGCAGTGGC GTGATCTCAGGTCACTGCAAGCTCTGCCTCTCAGGTTCACACCATTCTCC TGCCTCAGCCTCCTG	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	436	0.0023	314	c.723 others(331): Show c.723-2212_723-2211insCAGGAGGCTGAGGCAGGAGAATGGTGTG AACCTGAGAGGCAGAGCTTGCAGTGACCTGAGATCACGCCACTGCACTCC AGCCTGCTTGACAGAGCAAGACTCCATCGCAAAAAAAAATAGCCAGGCGT GGTGGCAGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAA TGGTGTGAACCTGAGAGGCAGAGCTTGCAGTGACCTGAGATCACGCCACT GCACTCCAGCCTGCTTGACAGAGCAAGACTCCATCGCAAAAAAAAATAGC CAGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACT	MLKL	ENSG00000168404.13	transcript	ENST00000308807.12	protein_coding	4/10			chr16	TogoVar
MMP26_chr11_4699784_4997429	4902306	C C	CTAGAATT others(307): Show CTAGAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGACTACA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03130.hp2 HG02886.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0190 a0001c0001t0001g0081 a0001c0001t0001g0190	2	202	0.0099	314	c.-14 others(335): Show c.-144-85751_-144-85750insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGACTACATAGAATTTCTT	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MOB1A_chr2_74147528_74183879	74176275	C C	CAAAAAAA others(307): Show CAAAAAAAAAAAAAAAAAAAAAAAAAGGCCAGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0197 a0001c0001t0016g0197	1	199	0.0050	314	c.14+ others(329): Show c.14+2385_14+2386insTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCTGGCCTTTTTTTTTTTTTTTTTTTTTTTTT	MOB1A	ENSG00000114978.18	transcript	ENST00000396049.5	protein_coding	1/5			chr2	TogoVar
MOB1A_chr2_74147528_74183879	74176275	C C	CAAAAAAA others(307): Show CAAAAAAAAAAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0196 a0001c0001t0010g0196	1	199	0.0050	314	c.14+ others(329): Show c.14+2385_14+2386insTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTTT	MOB1A	ENSG00000114978.18	transcript	ENST00000396049.5	protein_coding	1/5			chr2	TogoVar

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