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
TUBGCP5_chr15_22994177_23044569	23043122	CTGCCAGA others(554): Show CTGCCAGAGGTGCTGGGGGGCGGGGGGAACTTCATAACCCCACCTGGCCA GAGGTGCTGGGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGCTGGGG GGATTTCATAACCCAACCTGGCCAGAGGTGCTGGGGGGACATCATAACCT CACCTGGCCAGAGGTGCTAGGGGGATATCATAATCCCACCTGGCCAGAGA TGCTGGGGGGACATCATAACCCCACCTGGCCGGAGGTGCTGGGGGGCGGG GGGAACTTCCTAACCCTACCTGGCCGGAGGTGCTGGGGGTGACTTCATAA ATGTCACCAGGCCAGAGGTGCTGGGGGGGATTTCATAACCACAGCTGGCC AGAGGTGCTGGGGGAGATTTCATAACCCCACCTGGCCAGAGGTGCTAGTG GGACTTCATAATCACACCTGGCCAGAGGTGCCAGGAGGACTTCATAACCA CACCTGGCCAGAGGTGCTGGGGGGACATCATAACCTCACCTGGCCAGAGG TGCTGTGGGGGGGTATTATAACCCCACCTGGCCAGAGGTGCTGGGGGGGT CATAATCCCACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18992.hp2 NA19076.hp1 NA18982.hp1 NA18992.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0010 a0001c0002t0002g0097 a0001c0002t0002g0251 a0001c0001t0001g0010 a0001c0002t0002g0097 a0001c0002t0002g0251	3	347	0.0086	-561	c.-41 others(11): Show c.-4140_-3580del	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3554		chr15	TogoVar
USP49_chr6_41784896_41900375	41897032	GCCTGTAA others(554): Show GCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAC CAGGGAGTTGGAGGTTGCAGTGAGCTGAGATCGTGCCACAGCACTCCAGC CTGGCAACGGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAA GTGTCGCCTGGAAAGGCCTAGGGATCTCTGAGACCCTTTGGGCTGGGGGG ATAGTGGGGTGCCTGAGATCAAAACGATTTTCCTAATAATACTGAGACAT ATCTGCATTGTCACTGTGATGATATTTGCACAATGATACAAAAGTAGCAA TGGGTAAAACTGCTGCCTTAGCACAAATCAAGGCAACTGCACCAAGTTGT GCTAGAGGTCAAGGTATTCTTCACTGCTACAGTAAAAAAACACCTGTTTC AGGCCGGATGGGTGCAGTGGCTCACACCTGTAATCCCAACACTTTGGGAG GCCAAGGCAGGTGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGGCC AACATGGTGAAACCCCTCTCTCTACTAAAAATACAGAAATTAGCTGGGCG TGGTGGCACGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(55): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00733.hp2 HG01070.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01934.hp2 HG02040.hp1 HG02056.hp2 HG02080.hp2 HG02132.hp2 HG02293.hp1 HG02523.hp2 HG02897.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03540.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 NA18940.hp1 NA18945.hp2 NA18948.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18963.hp1 NA18973.hp2 NA18974.hp1 NA18982.hp1 NA18985.hp1 NA18994.hp2 NA19001.hp2 NA19004.hp1 NA19009.hp2 NA19012.hp1 NA19054.hp1 NA19056.hp2 NA19082.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0005c0009	a0001c0001t0001 a0001c0001t0014 a0001c0002t0011 others(6): Show a0001c0001t0001 a0001c0001t0014 a0001c0002t0011 a0001c0003t0002 a0001c0003t0021 a0001c0003t0024 a0001c0003t0026 a0002c0004t0002 a0005c0009t0002	a0001c0001t0001g0221 a0001c0001t0014g0063 a0001c0001t0014g0219 others(55): Show a0001c0001t0001g0221 a0001c0001t0014g0063 a0001c0001t0014g0219 a0001c0001t0014g0220 a0001c0002t0011g0208 a0001c0003t0002g0046 a0001c0003t0002g0047 a0001c0003t0002g0048 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0051 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0002g0166 a0001c0003t0002g0167 a0001c0003t0002g0168 a0001c0003t0002g0172 a0001c0003t0002g0173 a0001c0003t0002g0174 a0001c0003t0002g0175 a0001c0003t0002g0176 a0001c0003t0002g0177 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0182 a0001c0003t0002g0183 a0001c0003t0002g0184 a0001c0003t0002g0185 a0001c0003t0002g0187 a0001c0003t0002g0188 a0001c0003t0002g0189 a0001c0003t0002g0190 a0001c0003t0002g0191 a0001c0003t0002g0192 a0001c0003t0002g0194 a0001c0003t0002g0195 a0001c0003t0002g0196 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0200 a0001c0003t0002g0201 a0001c0003t0002g0202 a0001c0003t0002g0204 a0001c0003t0002g0205 a0001c0003t0002g0206 a0001c0003t0002g0268 a0001c0003t0002g0278 a0001c0003t0021g0165 a0001c0003t0024g0171 a0001c0003t0026g0193 a0002c0004t0002g0169 a0002c0004t0002g0186 a0002c0004t0002g0197 a0002c0004t0002g0203 a0002c0004t0002g0276 a0005c0009t0002g0170	58	382	0.1518	-561	c.-24 others(11): Show c.-2454_-1894del	USP49	ENSG00000164663.15	transcript	ENST00000682992.1	protein_coding		1658		chr6	TogoVar
WRAP73_chr1_3625770_3655103	3643812	CGGCCCCG others(554): Show CGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGACCCA GCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGACCC AGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGACC CAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGAC CCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGA CCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGG ACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGG GACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGG GGACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAG GGGACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAA GGGGACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGA AGGGGATCCAGT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01257.hp1 HG01258.hp1 others(6): Show HG00642.hp2 HG01257.hp1 HG01258.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01981.hp1 HG02148.hp1 HG02273.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0003 a0002c0004t0001g0003	9	380	0.0237	-561	c.339 others(17): Show c.339+2293_339+2853del	WRAP73	ENSG00000116213.16	transcript	ENST00000270708.12	protein_coding	3/11			chr1	TogoVar
WRAP73_chr1_3625770_3655103	3643860	CAGCGGCC others(554): Show CAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGAC CCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGA CCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGG ACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGG GACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGG GGACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAG GGGACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAA GGGGACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGA AGGGGACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGG AAGGGGACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCG GAAGGGGATCCAGTGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTC AGAAGGGGACCT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0049 a0003c0005t0001g0049	1	380	0.0026	-561	c.339 others(17): Show c.339+2245_339+2805del	WRAP73	ENSG00000116213.16	transcript	ENST00000270708.12	protein_coding	3/11			chr1	TogoVar
ZNF516_chr18_76352682_76500242	76392926	GGGGGGAG others(554): Show GGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGT GGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGG GGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAG GGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGC GGGTGGTCAGGT	G G	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0100 a0001c0001t0015g0100	1	343	0.0029	-561	c.181 others(21): Show c.1811-13184_1811-12624del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ARHGAP8_chr22_44747575_44867784	44815359	CTCGGTCT others(553): Show CTCGGTCTCCAGCCCCTCCTGAGATGAGACAAATAAAACCCACCCAAGGC CCCCGCCCTCAATCACATTGTTGGCACAAACTCTGTGGTGTTGGCCCAAG GTTCCCGGTGGGCAAAGACATTACCAGGCCGACTCTCCCAGGAGCTGAGA GGTTTCCACCCAGGAGCAGGTCACCCATGGCCAGCCTTCTCTTTGGAACG TGTGGGGCTTGGACACCCCCAGCCTGCTGAGTTAAGCCTTGATTGCATAG CAACCCAAATAAGCGGCCTAAAGAAAGGCAGCCACAGCCCGGAAATGTGG CGACTTCAGTCAGCTTCTTCCATATTTAGACTTGTTCCTGCTAAAGGATT TCTGCCTCAGTATTGGGAAGCAAGAGCTCAAGGGGCTCGTGAGGCCTGGG AGGCTCTGCCTGGGTCGCATGGGCATCTTGTATTTTCTTCCGTTTTGGCT GTATGCATCAGGCACAAACTGTGTGCACAGAGCCACATGACGGGGGTGGG GTGGGGAAGAGACTGACAGATGTCGTTCTTGCACGGTGGCTCTGGCCCTC CCTGGGTGAGT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0005 a0002c0023t0005	a0002c0023t0005g0071 a0002c0023t0005g0072 a0002c0023t0005g0071 a0002c0023t0005g0072	2	388	0.0052	-560	c.386 others(16): Show c.386+604_386+1163del	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ARRDC5_chr19_4885437_4907896	4885548	AAAAATTA others(553): Show AAAAATTAGCCGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGA GCCGACATTGCACTACTGCACTCCAGCCTGGCAACACAGCAAGACTCTGT CTTAAATAAATAAATCAATAAAGTGTCTTAGTTGGTCCCACCCTATGGAG AGGCTGGGTTTTCCGGAATCTGCTGGAATGTGGCAGGGGTCACTAAATGC AAATGTGTCATGGCTGCAGGGTTGACAGACACCCTGCAGCAAGAGGGAGG GAGGTACCAGTATGTTGCAGTTCGAAGGTGGCTGGAGAAGTATTTCAGGG CCATTCCCCCAAGAAGACAAACCCTGGATCAGTCTTTTTAAAATTTAATT TAATTTTAGTATTATAAAGAAAAATTTAAAAAACAGGCCGGGCGTGGTGG CTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCGGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCT ACTAAAAATAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	410	0.0024	-560	c.49 others(11): Show c.4938_*5497del	ARRDC5	ENSG00000205784.4	transcript	ENST00000650722.2	protein_coding		4888		chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	83004077	GTCCGCGT others(553): Show GTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGA TTCCTGAGCTCGCCCTCCCACTCTCCGCAGTCCGCGTGTGGGATTCCTGA GCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCAC TCTCCGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGC GTGTGGGATTCCTGAGCCCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGG ATTCCTGAGCTCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCTCGC CCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCG CCCTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGCAGTCCG CGTGTGGGATTCCTGAGCTCGCCCTCCCGCCCTCCGCGTGTGGGATTCCT GAGCTCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCTCG CCCTCCCACTCTCTGCAGTCCGCATGTGGGATTCCTGAGCTCGCCCTCCC ACCCTCCGCAC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0019 a0001c0006t0001g0019	1	222	0.0045	-560	c.459 others(16): Show c.459+478_459+1037del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
CDC16_chr13_114229897_114277723	114271125	ATTAGCCA others(553): Show ATTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCCAAGA TTTACCATTCATGTCATTTTTATTTTTAGAAAGTTTGCATGTCATTATCT GCCAAACTACCTATTTCTGAAAGCTATTGGTTTGAACTGTGTAAAACTCA TTTTGTTTATGTCGAATGATTGTACCTAATACATCTGTTCAGATCTGTTC AAATCTATATTACCCTTAAGGTTTTAATATATGGGAAATGGATTTTATTT CATCGTGGCTTTTTTATGCATAAGATTGGTGACTATACCCAATGGGCACA GCACAGTTCTTTTTTTTTGAGATGGAATCTCACTCTGTTGCCCAGGCTGG AGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCATCTCCTGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACCCG CCACCATGCCCGGCTAATTTTTTTGTATTTTTTTTTTTAGTAGAGACTGG GTTTCACCGTG	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18993.hp2 NA18957.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	2	378	0.0053	-560	c.160 others(18): Show c.1604-1028_1604-469del	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
CNN2_chr19_1021608_1044065	1034276	GTGGGTGG others(553): Show GTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGT GTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACC GGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGA CACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTA GACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGG GTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCT GGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGC GTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGT GTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACC GGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGA CACATTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTA GACCGGGAGCA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	387	0.0026	-560	c.390 others(17): Show c.390+1591_391-1284del	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931525	CAGAGGAA others(553): Show CAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0030 a0002c0001t0030	a0002c0001t0030g0192 a0002c0001t0030g0192	1	314	0.0032	-560	c.198 others(17): Show c.198+2126_199-1925del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931541	CGGGGAGA others(553): Show CGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG CGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGG AATGAGTGAGT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0105 a0001c0005t0105	a0001c0005t0105g0062 a0001c0005t0105g0062	1	203	0.0049	-560	c.198 others(17): Show c.198+2110_199-1941del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931589	GGAATGAG others(553): Show GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTG AGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGA GGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0031 a0004c0007t0031	a0004c0007t0031g0212 a0004c0007t0031g0212	1	366	0.0027	-560	c.198 others(17): Show c.198+2062_199-1989del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933305	GAGAGGAA others(553): Show GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02717.hp1 HG03486.hp2 HG00597.hp2 HG02717.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0001 a0001c0008 a0002c0001	a0001c0008t0039 a0001c0008t0097 a0002c0001t0081 a0001c0008t0039 a0001c0008t0097 a0002c0001t0081	a0001c0008t0039g0370 a0001c0008t0097g0371 a0002c0001t0081g0131 a0001c0008t0039g0370 a0001c0008t0097g0371 a0002c0001t0081g0131	3	351	0.0085	-560	c.198 others(15): Show c.198+346_198+905del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DDX51_chr12_132131594_132149319	132135501	CGAGTGTG others(553): Show CGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGT GCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCAC CTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCC CACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTC CTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGA GTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCC GCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCC GAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTG CCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCT CCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCA CGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCC CACCTCCCCGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0047 a0002c0002t0019g0047	1	332	0.0030	-560	c.32 others(11): Show c.3211_*3770del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1092		chr12	TogoVar
DENND5B_chr12_31377226_31596136	31483933	TGGCTCAC others(553): Show TGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCCTGCACCACCATGCCCAGCTAATTTTGTGTTTTT AGTAGAGACGGGGTTTCACCATTTTTGGCCAGGCTGGTCTCAAACTCCTG ACCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG TGTAAGCTACCCGACCCGGCCTCGAGCAATTTTCTTATTCAAGTTCAAAA TGGGTCGTAAAGCAGTGGAGACAACCACAACATCGACAATGCATTTGGCC CAGGGACTGCTAACTAACGCACAGTGCAGTGGTGGTTCAAGAAGTTTTGA AAAGGAGATGGCAGCCTTGGAGATGAGAAGCATAGTGGCTGGCCATCAGA AGTTGACAATGATCAATTGAGAGTAATCACTGAAGCTGACCCTCTTCAGC AACATGAAAAGTTGCTGAAGAACTCAACGTCGACCATTCTATGGCCGTTT GACATGTGAAGCAAATTGGAAAGGTGGAAAAACTCGGTAAGTGGGTGCCT CATGAGCTGAG	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18982.hp2 NA19085.hp1 HG00597.hp2 NA18982.hp2 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0084 a0002c0002t0015g0102 a0002c0002t0015g0103 a0002c0002t0015g0084 a0002c0002t0015g0102 a0002c0002t0015g0103	3	306	0.0098	-560	c.238 others(17): Show c.238-4238_238-3679del	DENND5B	ENSG00000170456.16	transcript	ENST00000389082.10	protein_coding	2/20			chr12	TogoVar
DPH7_chr9_137549444_137583925	137565302	TGGGTGAC others(553): Show TGGGTGACTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCT	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	182	0.0055	-560	c.641 others(15): Show c.641-708_641-149del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567756	TCTGTCTG others(553): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0177 a0001c0006t0001g0177	1	338	0.0030	-560	c.641 others(17): Show c.641-3162_641-2603del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
GIP_chr17_48953554_48973596	48959769	AGGACACA others(553): Show AGGACACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCGGGACACAGG ATGGGCTCAGCTCGGTGGGTAGGGACAGGCAGGCCACAGGATGGGCTCAG CTCTGTGTGTAGGGACAGGCAGGCCACAGGATGGGCTCAGCTCGGTGGGT AGGGACAGGCAGGCCACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGC GGGACACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCAGGCCACAGG ATGGGCTCAGCTCGGTGGGTAGGGACAGGCGGGCCACAGGATGGGCTCAG CTCTGTGTGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTCGGTGGGT AGGGACAGGCGGGACACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGC AGGCCACAGGATGGGCTCAGCTCGGTGGGTAGGGACAGGCGGGACATAGG ATGGGCTCAGCTCTGTGTGTAGGGACAGGCAGGCCACAGGATGGGCTCAG CTCGGTGGGTAGGGACAGGCGGGACACAGGATGGGCTCAGCTCTGTGTGT AGGGACAGGCG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	404	0.0025	-560	c.452 others(16): Show c.452+557_453-1054del	GIP	ENSG00000159224.4	transcript	ENST00000357424.2	protein_coding	5/5			chr17	TogoVar
GOLGA3_chr12_132763914_132833869	132817503	GGTGAACC others(553): Show GGTGAACCCGCACTCCACACCTCCACGCTCTAAGGTGAACCCACCCTCCA CACCTCCACACTCTAACGTGAACCCGCCCTCCACTCCTCCACGCTCTAAG GTGAACTCACCCTCCACACCTCCACGCTCTAAGGTGAACCCCCCCCCCAC ACCTCCACACTCTAAGGTGAACTCACCCTCCACTCCTCCACGCTCTAAGG TGAACCCGCCCTCCACACCTCCACGCTCTAAGGTGAACCCACCCTCCACA CCTCCACGCTCTAAGGTGAACCCGCCCTCCACTCCTCCACGCTCTAAGGT GAACCCGCACTCCACACCTCCACACTCTAACGTGAACCCGCCCTCCACTC CTCCACGCTCTAAGGTGAACTCACCCTCCACACCTCCACGCTCTAAGGTG AACCCCCCCCCCACACCTCCACACTCTAAGGTGAACTCACCCTCCACTCC TCCACGCTCTAAGGTGAACCCCCCCCCACACCTCCACACTCTAAGGTGAA CTCACCCTCCACTCCTCCACGCTCTAAGGTGAACCCACCCTCCACACCTG TACGCTCTAAC	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0076 a0001c0003t0018g0076	1	300	0.0033	-560	c.134 others(16): Show c.134-1251_134-692del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23			chr12	TogoVar
HIC1_chr17_2050103_2068241	2052377	TGCCTGGG others(553): Show TGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCT GGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGA TGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGG GGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGATGGGGTTAGGGGCCTGGGCT GGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGA TGGGGTTAGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02922.hp2 HG03041.hp2 HG02280.hp1 HG02922.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0065 a0001c0002t0001 a0001c0002t0003 a0001c0002t0065	a0001c0002t0001g0001 a0001c0002t0003g0001 a0001c0002t0065g0001 a0001c0002t0001g0001 a0001c0002t0003g0001 a0001c0002t0065g0001	3	368	0.0082	-560	c.-28 others(11): Show c.-2881_-2322del	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding		2725		chr17	TogoVar
HIC1_chr17_2050103_2068241	2052507	GGGGGTTA others(553): Show GGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGATGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGG GGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCT GGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGA TGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGATGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGATGGGGTTAGG GGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00735.hp2 others(38): Show HG00099.hp2 HG00140.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01515.hp2 HG01517.hp2 HG02027.hp2 HG02109.hp1 HG02165.hp1 HG02559.hp2 HG03041.hp1 HG03130.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03704.hp1 HG04199.hp2 NA18941.hp2 NA18943.hp1 NA18948.hp1 NA18957.hp2 NA18961.hp2 NA18979.hp1 NA18984.hp1 NA19030.hp2 NA19063.hp2 NA19064.hp2 NA19070.hp1 NA19072.hp1 NA19081.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0023 a0001c0001t0025 a0001c0001t0031 a0001c0001t0049 a0001c0001t0053 a0001c0001t0064 a0001c0001t0080 a0001c0002t0001 a0002c0003t0020 a0002c0003t0033 a0003c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0002g0002 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0002g0002 a0001c0001t0003g0001 a0001c0001t0003g0013 a0001c0001t0005g0001 a0001c0001t0005g0002 a0001c0001t0006g0001 a0001c0001t0006g0003 a0001c0001t0009g0002 a0001c0001t0010g0003 a0001c0001t0015g0001 a0001c0001t0023g0001 a0001c0001t0025g0002 a0001c0001t0031g0001 a0001c0001t0049g0001 a0001c0001t0053g0002 a0001c0001t0064g0005 a0001c0001t0080g0002 a0001c0002t0001g0001 a0002c0003t0020g0004 a0002c0003t0033g0004 a0003c0006t0001g0001	41	371	0.1105	-560	c.-27 others(11): Show c.-2751_-2192del	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding		2595		chr17	TogoVar
MAD1L1_chr7_1810795_2237945	1991285	ACCGCTGG others(553): Show ACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTC ACGAGCACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCT GGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCC ACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAG AGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCC CACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCAC CTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCT GAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGG GTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGC CGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCAC GAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGG CCTCACGAGCG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp2 HG01071.hp1 others(22): Show HG00639.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01175.hp1 HG01361.hp2 HG01975.hp1 HG01978.hp2 HG02040.hp1 HG02080.hp2 HG02132.hp1 HG02165.hp1 HG02273.hp2 HG02523.hp2 HG02572.hp2 HG02698.hp1 HG02965.hp1 HG03139.hp1 HG03579.hp2 NA18522.hp2 NA18954.hp2 NA18981.hp1 NA18999.hp1 NA18999.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0003t0001 a0001c0003t0007 a0002c0005t0001 a0002c0005t0002	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0182 others(22): Show a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0182 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0230 a0001c0001t0002g0055 a0001c0001t0002g0103 a0001c0001t0002g0108 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0122 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0201 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0007g0143 a0001c0003t0001g0072 a0001c0003t0007g0145 a0002c0005t0001g0240 a0002c0005t0002g0121	25	148	0.1689	-560	c.141 others(21): Show c.1416+10220_1417-10745del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
MAPK8IP3_chr16_1701195_1775351	1737306	ATCTGTGT others(553): Show ATCTGTGTGACCGTCCGTGTGAGCATCCGTGTGAGCGTGACCGTCCGTGA GTGTGTGACCGTCCGTGTGAGAGTGTGACCATCCATGTGAGCATCTGTGT GACCGTCCGTGTGAGCGTCCGTGTGAGTGTGTGAGCGTCCGTGTGAGTGT GACCACCCATGTGAGCATCTGTGTGACCGTCCGTGTGAGCGTCCGTGTGA GCGTGTGACCGTCCGTGTGAGTGTGTGACCATTCGTGTGAGAGTGTGACC ATCCATGTGAGCATCTGTGTGACCGTCCGTGAGCATCCGTGTGAGCGTGT GACCGTCCGTGTGTGTGACCATCCATGTGAGCATCCGTGTGACTGTCCGT GTGAGCGTCCGTGTGAGCGTGTGACCGTCCGTGTGTGACCATCCATGTGA GCATCTGTGTGACCGTCCGTGTGAGCATCCGTGTGAGCGTGACCATCCGT GTGTGTGACCATCCGTGTGAGTGACCATCCATGTGAGCATCCATGTGACC GTCCGTGTGAGCGTCCGTGTGAGCGTGACTGTCCGTGTGTGTGACCATCC ATGTGAGCATC	A A	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0252 a0001c0003t0003g0252	1	328	0.0030	-560	c.603 others(17): Show c.603-6024_603-5465del	MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYOM2_chr8_2040046_2150456	2085612	GCGTGGCC others(553): Show GCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGAT CTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTG ATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGT CGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCA CAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCC CACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGC CCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTG GCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTT TGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATC TCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGT GATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTG TTGTGATCTCT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00609.hp2 others(5): Show HG00423.hp1 HG00438.hp2 HG00609.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG02004.hp2 HG02148.hp1	a0001 a0005 a0006 others(2): Show a0001 a0005 a0006 a0019 a0052	a0001c0002 a0005c0005 a0006c0013 others(2): Show a0001c0002 a0005c0005 a0006c0013 a0019c0028 a0052c0126	a0001c0002t0001 a0005c0005t0001 a0006c0013t0001 others(2): Show a0001c0002t0001 a0005c0005t0001 a0006c0013t0001 a0019c0028t0001 a0052c0126t0001	a0001c0002t0001g0009 a0005c0005t0001g0242 a0005c0005t0001g0278 others(5): Show a0001c0002t0001g0009 a0005c0005t0001g0242 a0005c0005t0001g0278 a0005c0005t0001g0290 a0005c0005t0001g0294 a0006c0013t0001g0155 a0019c0028t0001g0186 a0052c0126t0001g0018	8	391	0.0205	-560	c.164 others(17): Show c.1644+223_1644+782del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
OR6B3_chr2_240039571_240058521	240042167	CGTGGGTG others(553): Show CGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGGCATGGACG AAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCA TGGACGAAGGGCCGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAA GAGGCATGGAGGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTG GGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGG GCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGA GGAAGGGCCGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGG CATGGAGGAAGGGCCGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTG AAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCG TGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGACGAA GGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATG GATGAAGGACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG01192.hp2 others(23): Show HG00558.hp2 HG00609.hp2 HG01192.hp2 HG02074.hp1 HG02155.hp2 HG02165.hp1 HG02280.hp2 HG02615.hp1 HG02698.hp1 HG03927.hp1 HG03942.hp2 NA18940.hp2 NA18952.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp2 NA18978.hp2 NA18980.hp2 NA19002.hp2 NA19059.hp2 NA19060.hp2 NA19070.hp2 NA19072.hp2 NA19077.hp1 NA19084.hp1 NA19086.hp2	a0001 a0003 a0015 a0001 a0003 a0015	a0001c0001 a0001c0023 a0003c0005 others(1): Show a0001c0001 a0001c0023 a0003c0005 a0015c0020	a0001c0001t0001 a0001c0023t0001 a0003c0005t0004 others(1): Show a0001c0001t0001 a0001c0023t0001 a0003c0005t0004 a0015c0020t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0025 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0109 a0001c0023t0001g0065 a0003c0005t0004g0006 a0003c0005t0004g0120 a0015c0020t0001g0064	26	442	0.0588	-560	c.23 others(11): Show c.2350_*2909del	OR6B3	ENSG00000178586.7	transcript	ENST00000641019.2	protein_coding		2403		chr2	TogoVar
PDGFC_chr4_156755454_156976799	156759562	CATGGTCA others(553): Show CATGGTCAATGCACCTGGAGACAGGGATGCACCGAGGGACCAAACCACGG TCAATGCACCTGGAGACAGGGATGCACCGAGGGTAACCAAACCACGTTCA ATGCGCCTGGAGACAGGGATGCACCGAGGGTAACCAAACCACGGTCAATG CACCTGGAGACAGGGATACACCGAGGGTAACCAAACCATAGTCAATGCAC CTGGAGACAGGGATGCACCGAGGGTAACCAAACCATGGTCAATGCACCTG GAGACAGGGATGCACCGAGGGACCAAACCACGGTCAATGCACCTAGAGAC AGGGATACACCGAGGGTAACCAAACCATAGTCAATGCACCTGGAGACAGG GATACACCGAGGGTAACCAAACCATAGTCAATGCACCTGGAGACAGGGAT GCACCGAGGGTAACCAAACCACGTTCAATGCGCCTGGAGACAGGGATGCA CCGAGGGTAACCAAACCACGGTCAATGCACCTGGAGACAGGGATACACCG AGGGTAACCAAACCATAGTCAATGCACCTGGAGACAGGGATGCACCGAGG GTAACCAAACG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG03540.hp1 NA21309.hp2 HG02896.hp1 HG03540.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0002 a0001c0001t0023	a0001c0001t0002g0087 a0001c0001t0002g0178 a0001c0001t0023g0013 a0001c0001t0002g0087 a0001c0001t0002g0178 a0001c0001t0023g0013	3	206	0.0146	-560	c.29 others(11): Show c.2968_*3527del	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding		891		chr4	TogoVar
PLEKHG4B_chr5_87168_194966	165998	CCTCTGAC others(553): Show CCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCAGGGCTCAC ACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGA GCTCACACTAATGCTCTGACGGGACGGGGCTCACACTAATGCTCTGACGG GGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTC TGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGGGCTCACACTA ATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTC ACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCG GGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGAC GGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGC TCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAG TAATCTTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGC TCACACTAATG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0047 a0001c0001t0004g0047	1	161	0.0062	-560	c.347 others(19): Show c.3476+2484_3477-2749del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB31_chr18_9703301_9867551	9815290	ACTGTCCT others(553): Show ACTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCC TGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATGCGTG TAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCC ATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCAT CCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATGCGTGTAGATGCTGT CCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGT GTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGAT GCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCC TGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTG TAGATGCTGTCCTCCATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCC ATCCCTGAGTGTCATCCGTGTAGATGCTGTCCTCCATCCCTGAGTGTCAT CCGTGGAGATG	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	189	0.0053	-560	c.380 others(15): Show c.380+163_380+722del	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
SLC7A1_chr13_29504414_29600688	29557969	GTGGGGGG others(553): Show GTGGGGGGAGTGAATGTGAATGAGGGGGAGTGAATGCGAATGAGGGGGAA AGTGAATGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGTATG GGGGGAGTGAATGTGAGTGGGGGGAGTGAATGTGAGTAGGGGGGAGTGAA TGTGAGTGAGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGA GGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGTGA ATGTGAGTGAGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTG AGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTGAGTGAGGGGGAGT GAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTGAA TGAGGGGGAGAGAATGTGAGTGAGGTGGAGAGAATGTGAGTGAGGGGGAG TGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAG TGAGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGA GAGAATGTGAA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01496.hp1 HG01943.hp1 others(23): Show HG01074.hp2 HG01496.hp1 HG01943.hp1 HG01952.hp2 HG02055.hp1 HG02155.hp1 HG02280.hp1 HG02572.hp2 HG02735.hp1 HG02886.hp1 HG02976.hp1 HG03098.hp1 HG03453.hp2 HG03579.hp1 HG03704.hp1 HG03942.hp2 HG04184.hp2 NA18522.hp1 NA18948.hp1 NA18970.hp2 NA18998.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19066.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0005 a0001c0003t0010 others(1): Show a0001c0003t0001 a0001c0003t0005 a0001c0003t0010 a0001c0003t0033	a0001c0003t0001g0072 a0001c0003t0005g0008 a0001c0003t0005g0082 others(22): Show a0001c0003t0001g0072 a0001c0003t0005g0008 a0001c0003t0005g0082 a0001c0003t0005g0083 a0001c0003t0005g0113 a0001c0003t0005g0152 a0001c0003t0005g0210 a0001c0003t0005g0211 a0001c0003t0005g0212 a0001c0003t0005g0214 a0001c0003t0005g0222 a0001c0003t0005g0224 a0001c0003t0005g0225 a0001c0003t0005g0231 a0001c0003t0005g0234 a0001c0003t0005g0237 a0001c0003t0010g0095 a0001c0003t0010g0223 a0001c0003t0010g0226 a0001c0003t0010g0227 a0001c0003t0010g0228 a0001c0003t0010g0229 a0001c0003t0010g0230 a0001c0003t0010g0232 a0001c0003t0033g0062	26	328	0.0793	-560	c.-11 others(19): Show c.-114-4669_-114-4110del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
TPD52L2_chr20_63860270_63896538	63879763	TCCCATCC others(553): Show TCCCATCCCCACTCTTAGGGCACAAATGCAGGTGCAGCTTTCCCATCCCC ACTCTTAGGGCACAAATGCAGGTGCAGCTTCCCCATCCCCACTCTTAGGG CACAAATGCAGGTGCAGCTTCCCCATCCCCACTCTTAGGGCACAAATGCA GGTGCAGCTTCCCCATCCCCACTCTTTAGGCACAAATGCAGGTGCAGCTT CCCCATCCCCACTCTTTAGGCACAAATGCAGGTGCAGCTTCCCCATCCCC ACTCTTAGGGCACAAATGCAGGTGCAGCTTCCCCATCCCCACTCTTTAGG CACAAATGCAGGTGCAGCTTCCCCATCCCCACTCTTTAGGCACAAATGCA GGTGCAGCTTTCCCATCCCCACTCTTAGGGCACAAATGCAGGTGCAGCTT CCCCATCCCCACTCTTTAGGCACAAATGCAGGTGCAGCTTCCCCATCCCC ACTCTTAGGGCACAAATGCAGGTGCAGCTTCCCCATCCCCACTCTTAGGG CACAAATGCAGGTGCAGCTTCCCCATCCCCACTCTTTAGGCACAAATGCA GGTGCAGCTTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01928.hp1 HG01934.hp2 others(1): Show HG00741.hp2 HG01928.hp1 HG01934.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0194 a0001c0001t0002g0277 a0001c0001t0002g0009 a0001c0001t0002g0194 a0001c0001t0002g0277	4	366	0.0109	-560	c.375 others(17): Show c.375-2916_375-2357del	TPD52L2	ENSG00000101150.18	transcript	ENST00000346249.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
ZNF835_chr19_56656980_56676757	56669497	AGGGGCCT others(553): Show AGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGTCTAC CAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCT CCATTAGCATAAATGTACTTGGGGGCCTACCAGGAGTCCTCCATTAGCAT AAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTT GGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGTCTAC CAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCT CCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCTCCATTAGCAT AAATGTACTTGGGGGCCTACCAGGAGTCCTCCATTAGCATAAATGTACTT GGGGGCCTATCAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTAT CAGGAGTCCTCCATTAGCATAAATGTACTTGGGGGCCTATCAGGAGTCCT CCATTAGCATAAATGTACTTGGGGGCCTACCAGGAGTCCTCCATTAGCAT AAATGTACTTG	A A	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0105 a0004c0005t0006g0105	1	420	0.0024	-560	c.-48 others(17): Show c.-48+1519_-48+2078del	ZNF835	ENSG00000127903.14	transcript	ENST00000537055.4	protein_coding	1/1			chr19	TogoVar
CACNG7_chr19_53904278_53948950	53920695	CTTGCTCC others(552): Show CTTGCTCCAGGTCTGGTCATTGGTGGAGCTGTCCCAGGCTGGTCATTGGT GGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATT GGTGGACTTGCCCCAGGCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGT ATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGTCT GGTCATTGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTGGACTTGCCCCA GGCTGGTCATTGGTGGACTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCC CAGGCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGC CCCAGGCCTGGTCATTGGTGGACTTGCCCCAGGTCTGGTCATTGGTGGAG TTGTCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGT GGAGTTGCCCCAGGCTGGTCATTGGTGGACTTGCCCCAGGCTGGTCATTG GTGGAGTTGTCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTC ATTGGTGGAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp2 HG00738.hp1 others(27): Show HG00099.hp1 HG00621.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01516.hp1 HG01975.hp2 HG02055.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp2 HG02976.hp1 HG03834.hp1 HG04115.hp1 HG04199.hp2 NA18747.hp1 NA18950.hp1 NA18959.hp2 NA18975.hp1 NA19000.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19079.hp2 NA19090.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0010 a0001c0001t0001g0173 a0001c0001t0001g0241 others(26): Show a0001c0001t0001g0010 a0001c0001t0001g0173 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0307 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0332 a0001c0001t0002g0179 a0001c0001t0002g0260 a0001c0001t0002g0278 a0001c0001t0002g0308 a0001c0001t0002g0322 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0005g0064	30	349	0.0860	-559	c.424 others(17): Show c.424+5195_424+5753del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDK5RAP1_chr20_33353839_33406519	33382899	GGCCAGGC others(552): Show GGCCAGGCACAGTGGCTCACACCTGTAATCCTAGCCCTTTGGGAGGCTGA GCCGGGTGAATCACCTGAGGTCAGGAGTTTGAGACTAAGCCTGGCCAACA TGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGTGTAGTGG TGCACACCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACT TGAACCTGGGAGGCGGAGGTTGCGGTGAGCCAAGATTGTGCCATTGCACT CCAGCCTGGGCAAAAAGAGCGAAACTCCATCTCAAAAATAAATAAATAAA TAAATAATAAAAAGATTTTTAAATGTTTAAAAAAGAAAATATCCTTATTT TTTAGAGATGCATACTGAAGGATGAAACAACATGCTCTACTTTGAAATAC GTTTTCAATAAGAAAAAAATAAATGAGGCCAGGCGTAGTGGGCTCACACC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTTGAGATCA GGAGTTTGAGACCAGCCTAACATGGTGAAACCCCGTCTCTATTAAAAATA CAAAAATTAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	356	0.0028	-559	c.876 others(17): Show c.876+2192_876+2750del	CDK5RAP1	ENSG00000101391.21	transcript	ENST00000346416.7	protein_coding	7/13			chr20	TogoVar
DLGAP2_chr8_732628_1713476	1388108	TGGGGAGG others(552): Show TGGGGAGGCTCTGGTTCAGGTGTCAGGGCTGTGAGAGGCAGAGGCAGTGG GTGGGGAGGCACTGGTTCAGGTGTCAGGGCTGTGAGAGGCAGAGACCGTG GATGAGGAGGCGCTGGTTCAGGTGTCAGGGCTGTAAGAGGCAGAGGCCGT GGATGAGGAGGCGCTGGTTCAGGTGTCAGGGCTGTGAGAGGCAGATGCCG TGGATGAGGAGGTGCTGGTTCAAGTGTCAGGGCTGTGAGAGGCAGAGGCC ATGGATGAGGAGGCGCTGGTTCAGGTGTCAGGGCTGTGAGAGCAGAGGCC GTGGATGGGGAGGCGCTGGTTCAAGTGTCAGGGCTGTGAGAGGCAGATGC CGTGGATGAGGAAGCGCTGGTTCAAGTGTCAGGGCTGTGAGAGGCAGAGG CCGTGGATGAGGAGGCGCTGGTTCAGGTGTCAGGGCTTTGAGAGGCAGAG GCAGTGGGTGGGGAGGCACTGGTTCAGGTGTCAGGGCTGTGAGAGCAGAG GCCGTGGATGGGGAGGCTCTGGTTCAGGTGTCAGGGCTGTGAGAGGCAGA CGCCGTGGAA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01496.hp1 HG01891.hp1 others(7): Show HG01071.hp2 HG01496.hp1 HG01891.hp1 HG02071.hp1 HG02074.hp2 HG02698.hp2 HG02818.hp1 HG03492.hp2 HG03710.hp1 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0002c0004	a0001c0002t0002 a0001c0002t0009 a0001c0002t0010 others(7): Show a0001c0002t0002 a0001c0002t0009 a0001c0002t0010 a0001c0002t0027 a0001c0003t0024 a0002c0001t0003 a0002c0001t0011 a0002c0004t0003 a0002c0004t0018 a0002c0004t0026	a0001c0002t0002g0022 a0001c0002t0009g0039 a0001c0002t0010g0008 others(7): Show a0001c0002t0002g0022 a0001c0002t0009g0039 a0001c0002t0010g0008 a0001c0002t0027g0023 a0001c0003t0024g0003 a0002c0001t0003g0021 a0002c0001t0011g0002 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0004t0026g0016	10	40	0.2500	-559	c.107 others(21): Show c.107-113256_107-112698del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
GNG2_chr14_51855612_51974795	51911625	CCTCTAAC others(552): Show CCTCTAACTCTTGGGCTCATGTAATCCTCCCACCTCAGCCTCCTGGGTAG CTAAGACTACAGGTGTATGCCACCAAGCCTGGCTAATTTTTTAAAAAAAC ATTTATAGAGACAGGGTCTCACTATATTTCCCAGACCGGTCTCCAAACTC CTAGCCTCCAGTGATCTGCCTACTTTGGCCTCCCAAAGCACTGGGATTAC AGGCGTGAGCCACCATGCCCATCCTGATAGCCTTTTCTTATGTTTTTTTT TTTTGTTGTTATTGTTAGATTAAAGGAGTTGAATCATGAAAAGGGCTTTA TATAAAGTAATTGCTTAGTAAATGAAAAAAAGTATAGCTAATAGTGTCAG GCACTGTTCTAGGTACTTTACATATATTATTTACTCTTCACAAGCTCCCA GGAAATATGTGGTGGTGTTATCATCCCCACTTTCAAGATGAGGAAATGGA GGCACACAGGTTAAGTAACTTGCCCAGCATCACCTATTGAGTAAATGGCA GAACTGAGACTCAAACTTGGGCAGTGTGGCCCAGAGCCCAAGCTCTTGAC CACTTTGCTG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00558.hp1 others(57): Show HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG01891.hp2 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03516.hp1 HG03688.hp2 HG04228.hp1 NA18941.hp2 NA18950.hp2 NA18955.hp2 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18971.hp1 NA18972.hp1 NA18974.hp2 NA18988.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp1 NA18999.hp1 NA19002.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19054.hp1 NA19057.hp2 NA19068.hp1 NA19072.hp2 NA19082.hp1 NA19085.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0067 a0001c0002t0044	a0001c0001t0001g0057 a0001c0001t0001g0075 a0001c0001t0001g0113 others(57): Show a0001c0001t0001g0057 a0001c0001t0001g0075 a0001c0001t0001g0113 a0001c0001t0001g0135 a0001c0001t0001g0168 a0001c0001t0001g0240 a0001c0001t0001g0263 a0001c0001t0001g0271 a0001c0001t0001g0289 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0153 a0001c0001t0002g0236 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0312 a0001c0001t0002g0318 a0001c0001t0002g0327 a0001c0001t0002g0330 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0005g0013 a0001c0001t0005g0129 a0001c0001t0005g0300 a0001c0001t0005g0331 a0001c0001t0007g0044 a0001c0001t0007g0046 a0001c0001t0009g0042 a0001c0001t0011g0235 a0001c0001t0012g0163 a0001c0001t0012g0189 a0001c0001t0012g0246 a0001c0001t0012g0278 a0001c0001t0012g0337 a0001c0001t0013g0361 a0001c0001t0015g0132 a0001c0001t0015g0136 a0001c0001t0015g0138 a0001c0001t0015g0139 a0001c0001t0016g0045 a0001c0001t0019g0051 a0001c0001t0020g0154 a0001c0001t0020g0277 a0001c0001t0021g0362 a0001c0001t0022g0274 a0001c0001t0024g0058 a0001c0001t0024g0059 a0001c0001t0024g0063 a0001c0001t0034g0364 a0001c0001t0035g0378 a0001c0001t0036g0053 a0001c0001t0067g0065 a0001c0002t0044g0133	60	378	0.1587	-559	c.-30 others(19): Show c.-30+33970_-30+34528del	GNG2	ENSG00000186469.9	transcript	ENST00000556766.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr14	TogoVar
IDI1_chr10_1034419_1054119	1047011	CTGTCTAC others(552): Show CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCC AGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACAC CACACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCA CTGTCTACACCACACAGCCCAGCTGCTCCACTGTCTACTGTCTACACCAC ACAGCCCAGCTGCTCCACTGTCTACACCACACAGCCCAGCTGCTCCACTG TCTGGTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00733.hp1 HG01081.hp2 others(46): Show HG00423.hp2 HG00733.hp1 HG01081.hp2 HG01346.hp1 HG01515.hp2 HG01884.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02523.hp2 HG02615.hp1 HG02647.hp1 HG02735.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03669.hp1 HG03704.hp1 HG04204.hp1 NA18951.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18978.hp2 NA18980.hp2 NA18983.hp2 NA18986.hp1 NA18990.hp2 NA18992.hp1 NA19012.hp1 NA19070.hp1 NA19090.hp1 NA20129.hp2 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0006c0007t0002	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(16): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0072 a0001c0001t0002g0002 a0001c0001t0002g0064 a0001c0001t0007g0077 a0001c0001t0008g0058 a0001c0001t0013g0060 a0001c0001t0014g0094 a0006c0007t0002g0067	49	436	0.1124	-559	c.140 others(17): Show c.140+1294_140+1852del	IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding	1/4			chr10	TogoVar
MYOM2_chr8_2040046_2150456	2085619	CCCCCACA others(552): Show CCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCG TGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTT TGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATC TCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGT GATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTT GTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCAC TGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCCCCC ACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCC CCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGT GGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCT TTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTTGTGAT CTCTGCGTGG	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0016 a0016	a0016c0057 a0016c0057	a0016c0057t0001 a0016c0057t0001	a0016c0057t0001g0156 a0016c0057t0001g0156	1	386	0.0026	-559	c.164 others(17): Show c.1644+236_1644+794del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NXPE3_chr3_101774211_101833231	101802363	ATCCCAGC others(552): Show ATCCCAGCACTTTGGGAGGCTGAAACGGGAGGATCGCTTGAGCCCAGGAG TTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTATTTTATGTAAA GAAAAAAATAATCCAAGAACAGGGCTGGTAGGGCTGGTAGTCAGGCTGGT GTTTTATCTTTGTATCTAATGAACTGAAACTTTAAAAAGTAACATAATAA CAGTTTTTAAAATCATTTGAACCTACTGATTAAAAAACTATGAATATGGC AACATTGCTGGGTTGACTTAATAAGCATAGGAAGTCAGGAATACCACAGA AAACTATATTTTTTAAGCTAAATAGTTGTTGAAATTATTGCAGTATTGTG TTCAAATTTCTATTTCAAATGTAAGCTTAAAATATTTTCAGCATGATGAG AAATACATGGAATAATGTGCAGAAAGGAATATGGAACCAGTATGAATTAA AATTTGTGTTTTCTTCAACATTCCATAACATCACTAAGAAATAAAAAATT ATAAAAGCTACATGGTTAAAAAGTACCATGCTGGCCAAGCGTGGTGGCTC ATGACTGTAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp1 HG03139.hp1 others(2): Show HG02055.hp1 HG02965.hp1 HG03139.hp1 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0039 a0001c0001t0015 a0001c0001t0039	a0001c0001t0015g0003 a0001c0001t0015g0004 a0001c0001t0039g0040 a0001c0001t0015g0003 a0001c0001t0015g0004 a0001c0001t0039g0040	5	378	0.0132	-559	c.848 others(15): Show c.848+397_848+955del	NXPE3	ENSG00000144815.18	transcript	ENST00000273347.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
OAS3_chr12_112933474_112978251	112933858	TCCTGGGC others(552): Show TCCTGGGCTACAGAGCGAAACTGTCAAAAAAAAAAAAAAAAAAAGGCACA AAAACAAGCAGAGGCTGGACCAGATGTGGCCCATGGGCCATAGTTTGCCA GTTTCTTCCAACATTTCATTAAGAAAAATTTCCAAGCAAACAGCCACATT GAAAGAATTTTGCAGTGAACACTCATATACTCACCACATAGATTTTACAA TTAACGTTTTATTGCACTTGCTTGATTGCATATCTACAATTTCTTCATCC TTCTATCCATCCATGAATCCATCTTATTCTTTTGATGCATCAGAAGATTC TTTTTCTGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTCGGGA AGCCAAGGCCGTTGGATCACCTGAGGTCAGGAGTTCGAGACCACCCTGGC CAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGACA TGGTGGCACACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATTGCTTAAACCTGGGAGGCAGAAGTTGCAGTGAGCCGAGACCACACTGC TGCACTCCAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0011 a0006c0010t0011	a0006c0010t0011g0023 a0006c0010t0011g0023	1	368	0.0027	-559	c.-46 others(11): Show c.-4672_-4114del	OAS3	ENSG00000111331.14	transcript	ENST00000228928.12	protein_coding		4615		chr12	TogoVar
PCMT1_chr6_149744741_149816419	149762543	TCTATGAT others(552): Show TCTATGATATATATATATCTATGATATATATATCTATGATATATATATCT ATGATATATATATCTATGATATATATATATCTATGATATATATATATCTA TGATATATATATGATATATATATCTATGATATATATATATCTATGATATA TATATATCTATGATATATATATCTATGATATATATATCTATGATATATAT ATATCTATGATATATATACCTATGATATATATATACCTATGATATATATA CCTATGATATATATATCTATGATAATCTATGATATATATGATATATATAT CTATGATATATATCTATGATATATATATCTATGATATATATGTTATATAT ATCTATGATATATATCTATGATATATATATCTATGATATATATGATATAT ATATCTATGATATGTATATCTATGATATATATGATATATATATCTATGAT ATATATGATATATATATCTATGATATATATGATATATCTATGATATCTAT GATATGTATATCTATGATATATATATCTATGATATGTATATCTATGATAT ATATGATATA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	324	0.0031	-559	c.56- others(15): Show c.56-8618_56-8060del	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7			chr6	TogoVar
SDHA_chr5_213320_262082	261523	GCATTACC others(552): Show GCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTACCGTGTGAGCTC CGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCAT TACCGTGTGAGCTCCGCCTCCCCACAGAGCATTACCGTGTGAGCTCCGCC TCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACC GTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCGCCCCCC GCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGACAGAGCATTACCGTGT GAGCTCCGCCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTC AGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAG CTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAG CATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCC GCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATT ACCGTGTGAG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	264	0.0038	-559	c.51 others(11): Show c.5104_*5662del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4442		chr5	TogoVar
SKI_chr1_2223319_2315213	2281476	CGAGAGGA others(552): Show CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAGG ACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGGACAGGCG GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGG AGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTT CAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAG AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAG GACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGC GGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGCG GAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCT TCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA GAGGACGCCC	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0252 a0001c0001t0003g0252	1	297	0.0034	-559	c.970 others(19): Show c.970-21497_970-20939del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
TEX29_chr13_111315642_111349248	111340888	TCTGTGCT others(552): Show TCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGC TTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGA TGAAAATAATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAAT CATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACC CCTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTT AGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGC ACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTG CTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTG ATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACA TCATAACCCATGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAAC CCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTT TAGTGAGCAC	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02257.hp1 HG01167.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0063 a0001c0002t0001g0163 a0001c0001t0001g0063 a0001c0002t0001g0163	2	338	0.0059	-559	c.239 others(16): Show c.239+956_240-1310del	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5			chr13	TogoVar
UBE2V2_chr8_48003431_48069708	48055361	AGCTAATT others(552): Show AGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCA GGCTGGTCTTGAACTCCTGATTTCAGGCGATCCACCCACCTCAGCCTACC AAAGTGCTGGGATTACAAGTGTGAGCCATTGCGCCTGCTGTTAGTTTCTA AAATAAATATCACTCTAAAATTATTTTTCTTTTCTACTTTCAAACACTTT TATGGTGATATAATTCACATACCATACAATTCACCCATTTAAAGGGTAAA ATTCAAGGGTTTTTAGTATTCACAACATTGTGGAATCACTGCCATGACCC AGGTTTGGAACATTTTTGTTCTTCCCAAAGCAAATCTGTGCCCATCAGTT GTCATTTCCCATCCCATCTCCCTTAGACCTAAACAACCATTAATCCACTT TCTGTCTTTTTTTTTTTTTTTTGAGGCAGAGTCTCACTCTGTCGCCCAGG CTGGAGTGCAATGGCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCATG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACCACACGGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	240	0.0042	-559	c.292 others(17): Show c.292-5281_292-4723del	UBE2V2	ENSG00000169139.12	transcript	ENST00000523111.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZNF516_chr18_76352682_76500242	76392673	AGGTGGAT others(552): Show AGGTGGATGGGAAGGCAGGTGACCAGGTGGGGGAAAGGTGGATGGGAAGG CAGGTGACCAGGTGGGGGAAAGGTGGATGGGAAGGCAGGTGACCAGGTGG GGGAAAGGTGGATGGGAAGGCAGGTGGCCAGGTGGGGGAAAGGCAGGTAG TCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTG GGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAGGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0062 a0018c0023t0062	a0018c0023t0062g0104 a0018c0023t0062g0104	1	333	0.0030	-559	c.181 others(21): Show c.1811-12929_1811-12371del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393752	GGGTGGTC others(552): Show GGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTC AGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAGGGCA	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0116 a0003c0007t0116	a0003c0007t0116g0182 a0003c0007t0116g0182	1	296	0.0034	-559	c.181 others(21): Show c.1811-14007_1811-13449del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
AHRR_chr5_316714_443285	357592	GGAGTGGA others(551): Show GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCGT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCG AGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGA AGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTC AGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGTCC ACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCA GTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAG TGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAG AGCGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0004 a0003c0004t0004g0004	1	171	0.0058	-558	c.244 others(17): Show c.244+3755_244+4312del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	357888	AGGAAGAG others(551): Show AGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGC AGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGA GTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCC CTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCG CGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCGTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGG AGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGA AGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGTCCACCCGGGCAGTC AGCGACTGG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0254 a0001c0001t0012g0254	1	187	0.0053	-558	c.244 others(17): Show c.244+4039_244+4596del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	358012	GGGAAGAG others(551): Show GGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGC AGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGA GTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCC CTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCG CGAGTGGAGGCCGTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCT CAGACACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGGG AGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGA AGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTC AGCGACTGA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	165	0.0061	-558	c.244 others(17): Show c.244+4127_244+4684del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar

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