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
THEG_chr19_356747_381026	377580	G G	GCCCCACC others(308): Show GCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCT GTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTGTGTGCCCCATCCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCATCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGC CTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0119 a0001c0001t0039g0119	1	370	0.0027	315	c.-16 others(326): Show c.-1611_-1610insGCACAGAGGGGGAGAGGCTGGGTGGGGGCACGGG GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGATGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGGGGGGGAGAGGCTGGATGGGGCACACAGGGGGAGAGGCTGGGTGGG GCACAGAGGGGGAGAGGCTGGGTGGGGCACACAGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACGGGGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1555		chr19	TogoVar
THOP1_chr19_2780503_2820807	2817986	G G	GACTAAGA others(308): Show GACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGA CAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAG CAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAG AACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGT GACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGA CCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGA GCAGGTGACAAGGATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0173 a0001c0003t0006g0173	1	370	0.0027	315	c.47 others(326): Show c.4710_*4711insACTAAGAACAGAGCAGGTGACCAAGGATAACTAA GGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGA TGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTG ACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGA GCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAA GGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGG ATGACTAAGGTCAGAGCAGGTGACAAGGATA	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		2180		chr19	TogoVar
TLCD2_chr17_1697816_1715377	1704863	G G	GCCCGGCC others(308): Show GCCCGGCCAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGT CGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGC CCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG00639.hp2 others(50): Show HG00558.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp2 HG02602.hp1 HG02886.hp1 HG03516.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18952.hp2 NA18966.hp2 NA18969.hp1 NA18971.hp1 NA18975.hp2 NA18980.hp1 NA18987.hp2 NA18998.hp1 NA19003.hp2 NA19007.hp1 NA19011.hp1 NA19055.hp1 NA19058.hp1 NA19070.hp2 NA19072.hp1 NA19079.hp2 NA19086.hp2 NA19088.hp2 NA20300.hp2 NA20805.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0008 a0001c0001 a0001c0002 a0008c0008	a0001c0001t0003 a0001c0001t0009 a0001c0001t0030 others(6): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0030 a0001c0001t0044 a0001c0001t0045 a0001c0001t0097 a0001c0001t0098 a0001c0002t0003 a0008c0008t0003	a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0025 others(28): Show a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0025 a0001c0001t0003g0079 a0001c0001t0003g0100 a0001c0001t0003g0105 a0001c0001t0003g0148 a0001c0001t0003g0154 a0001c0001t0003g0167 a0001c0001t0003g0172 a0001c0001t0003g0182 a0001c0001t0003g0214 a0001c0001t0003g0277 a0001c0001t0009g0007 a0001c0001t0009g0081 a0001c0001t0009g0127 a0001c0001t0009g0211 a0001c0001t0009g0239 a0001c0001t0030g0049 a0001c0001t0044g0073 a0001c0001t0045g0161 a0001c0001t0097g0247 a0001c0001t0098g0248 a0001c0002t0003g0070 a0001c0002t0003g0082 a0001c0002t0003g0110 a0001c0002t0003g0199 a0001c0002t0003g0207 a0001c0002t0003g0212 a0001c0002t0003g0266 a0008c0008t0003g0084	53	451	0.1175	315	c.29 others(326): Show c.2906_*2907insTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGC CGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAATTGGCCGGG	TLCD2	ENSG00000185561.10	transcript	ENST00000330676.8	protein_coding	4/4	2906		chr17	TogoVar
TMC1_chr9_72516608_72843297	72616617	T T	TAAGAACA others(308): Show TAAGAACAGAGCAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG01081.hp2 others(2): Show HG00323.hp1 HG00735.hp2 HG01081.hp2 HG01167.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0012 a0001c0001t0031 a0001c0003t0005 others(1): Show a0001c0001t0012 a0001c0001t0031 a0001c0003t0005 a0001c0003t0030	a0001c0001t0012g0104 a0001c0001t0012g0105 a0001c0001t0031g0155 others(2): Show a0001c0001t0012g0104 a0001c0001t0012g0105 a0001c0001t0031g0155 a0001c0003t0005g0026 a0001c0003t0030g0175	5	182	0.0275	315	c.-19 others(332): Show c.-196+153_-196+154insGCCGGGCGTGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAGAACAGAGCAG	TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr9	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(308): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0233 a0004c0006t0001g0233	1	444	0.0023	315	c.227 others(334): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(308): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0019 a0004c0006t0019	a0004c0006t0019g0026 a0004c0006t0019g0026	1	444	0.0023	315	c.227 others(334): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(308): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	444	0.0023	315	c.227 others(334): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(308): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0009 a0004c0006t0009	a0004c0006t0009g0038 a0004c0006t0009g0038	1	444	0.0023	315	c.227 others(334): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(308): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA19057.hp1 NA20300.hp2 HG00741.hp1 NA19057.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0003 a0001c0005 a0003c0003	a0001c0005t0001 a0003c0003t0001 a0003c0003t0062 a0001c0005t0001 a0003c0003t0001 a0003c0003t0062	a0001c0005t0001g0315 a0003c0003t0001g0349 a0003c0003t0062g0379 a0001c0005t0001g0315 a0003c0003t0001g0349 a0003c0003t0062g0379	3	444	0.0068	315	c.227 others(334): Show c.2277+1336_2277+1650dupCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115639	G G	GGCGAAGG others(308): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0079 a0002c0002t0002g0079	1	444	0.0023	315	c.227 others(334): Show c.2277+1629_2277+1630insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115660	G G	GGCGAAGG others(308): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0354 a0003c0003t0005g0354	1	444	0.0023	315	c.227 others(334): Show c.2277+1608_2277+1609insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115828	G G	GGCGAAGG others(308): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0116 a0002c0002t0002g0116	1	444	0.0023	315	c.227 others(334): Show c.2277+1440_2277+1441insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCCTCC others(308): Show CAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03195.hp1 NA18906.hp2 HG03139.hp2 HG03195.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0030 a0001c0002t0001g0052 a0002c0003t0001g0025 a0001c0002t0001g0030 a0001c0002t0001g0052 a0002c0003t0001g0025	3	94	0.0319	315	c.129 others(336): Show c.1299+34183_1299+34497dupCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM179_chr14_104585864_104609772	104603541	G G	GGCTCACA others(308): Show GGCTCACAGAGGGAGTGGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACA GAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGTTCACAGAGGGAGT GGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACAGAGGGGGTGGGTGGGC TCACAGAGGGAGTGGGTGGGTTCACAGAGGGGGTGGGTGGGTTCACAGAG GGGGTGGGTGGGTTCACAGAGGGGGTGGGTGGGCTCACAGAGGGGGTGGG TGGGTTCACAGAGGGAGTGGGTGGGTTCACAGAGGGGGTGGGTGGGTTCA CAGAGGGGGTGGGTGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02451.hp1 HG01167.hp2 HG01169.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0029 a0001c0002t0003 a0001c0002t0029	a0001c0002t0003g0038 a0001c0002t0029g0099 a0001c0002t0003g0038 a0001c0002t0029g0099	3	407	0.0074	315	c.305 others(330): Show c.305+895_305+896insTCACCCACCCCCTCTGTGAACCCACCCACC CCCTCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCACCCCCTCTGT GAGCCCACCCACCCCCTCTGTGAACCCACCCACCCCCTCTGTGAACCCAC CCACCCCCTCTGTGAACCCACCCACTCCCTCTGTGAGCCCACCCACCCCC TCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCACTCCCTCTGTGAA CCCACCCACCCCCTCTGTGAGCCCACCCACCCCCTCTGTGAACCCACCCA CTCCCTCTGTGAACCCACCCACTCCCTCTGTGAGC	TMEM179	ENSG00000258986.7	transcript	ENST00000556573.6	protein_coding	1/3			chr14	TogoVar
TMEM179_chr14_104585864_104609772	104603541	G G	GGCTCACA others(308): Show GGCTCACAGAGGGAGTGGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACA GAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGTTCACAGAGGGAGT GGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACAGAGGGGGTGGGTGGGC TCACAGAGGGGGTGGGTGGGTTCACAGAGGGGGTGGGTGGGTTCACAGAG GGGGTGGGTGGGTTCACAGAGGGGGTGGGTGGGCTCACAGAGGGGGTGGG TGGGTTCACAGAGGGAGTGGGTGGGTTCACAGAGGGGGTGGGTGGGTTCA CAGAGGGGGTGGGTGA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0093 a0001c0002t0003g0093	1	407	0.0025	315	c.305 others(330): Show c.305+895_305+896insTCACCCACCCCCTCTGTGAACCCACCCACC CCCTCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCACCCCCTCTGT GAGCCCACCCACCCCCTCTGTGAACCCACCCACCCCCTCTGTGAACCCAC CCACCCCCTCTGTGAACCCACCCACCCCCTCTGTGAGCCCACCCACCCCC TCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCACTCCCTCTGTGAA CCCACCCACCCCCTCTGTGAGCCCACCCACCCCCTCTGTGAACCCACCCA CTCCCTCTGTGAACCCACCCACTCCCTCTGTGAGC	TMEM179	ENSG00000258986.7	transcript	ENST00000556573.6	protein_coding	1/3			chr14	TogoVar
TMTC1_chr12_29495840_29788942	29726411	G G	GCCATCTC others(308): Show GCCATCTCCCAATCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	276	0.0036	315	c.938 others(334): Show c.938+25254_938+25255insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAGATTGGGAGATGG	TMTC1	ENSG00000133687.16	transcript	ENST00000539277.6	protein_coding	5/17			chr12	TogoVar
TNKS_chr8_9550912_9787346	9606150	T T	TTTTTTTA others(308): Show TTTTTTTATTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCATTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTG GCCAAGAGTTATTTTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02258.hp1 HG02451.hp2 others(3): Show HG01192.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG03453.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0006 a0001c0007t0012 a0001c0002t0006 a0001c0007t0012	a0001c0002t0006g0113 a0001c0002t0006g0117 a0001c0007t0012g0114 others(3): Show a0001c0002t0006g0113 a0001c0002t0006g0117 a0001c0007t0012g0114 a0001c0007t0012g0115 a0001c0007t0012g0116 a0001c0007t0012g0118	6	272	0.0221	315	c.899 others(332): Show c.899-9431_899-9430insTTTTTATTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCATT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCTGGCCAAGAGTTATTTTGT	TNKS	ENSG00000173273.17	transcript	ENST00000310430.11	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr8	TogoVar
TNKS_chr8_9550912_9787346	9606150	T T	TTTTTTTA others(308): Show TTTTTTTATTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCATTGCAAGCTCCGTCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTG GCCAAGAGTTATTTTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG01099.hp2 others(26): Show HG00280.hp2 HG00733.hp2 HG01099.hp2 HG01109.hp2 HG02074.hp2 HG02602.hp2 HG02897.hp2 HG03017.hp1 HG03139.hp1 HG03491.hp1 HG03540.hp1 HG03654.hp2 HG03710.hp1 HG03927.hp1 HG04115.hp1 HG04228.hp2 NA18947.hp2 NA18953.hp2 NA18956.hp2 NA18957.hp2 NA18961.hp2 NA18963.hp1 NA18986.hp2 NA19005.hp2 NA19043.hp1 NA19057.hp2 NA19064.hp1 NA19070.hp1 NA19079.hp1	a0001 a0001	a0001c0003 a0001c0011 a0001c0015 others(1): Show a0001c0003 a0001c0011 a0001c0015 a0001c0018	a0001c0003t0003 a0001c0003t0016 a0001c0003t0017 others(8): Show a0001c0003t0003 a0001c0003t0016 a0001c0003t0017 a0001c0003t0021 a0001c0003t0028 a0001c0003t0030 a0001c0003t0031 a0001c0003t0050 a0001c0011t0005 a0001c0015t0003 a0001c0018t0003	a0001c0003t0003g0012 a0001c0003t0003g0015 a0001c0003t0003g0016 others(26): Show a0001c0003t0003g0012 a0001c0003t0003g0015 a0001c0003t0003g0016 a0001c0003t0003g0019 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0024 a0001c0003t0003g0025 a0001c0003t0003g0026 a0001c0003t0003g0032 a0001c0003t0003g0036 a0001c0003t0003g0037 a0001c0003t0003g0039 a0001c0003t0003g0079 a0001c0003t0003g0080 a0001c0003t0003g0081 a0001c0003t0003g0082 a0001c0003t0003g0083 a0001c0003t0016g0014 a0001c0003t0017g0013 a0001c0003t0021g0078 a0001c0003t0028g0034 a0001c0003t0030g0010 a0001c0003t0031g0018 a0001c0003t0050g0017 a0001c0011t0005g0112 a0001c0015t0003g0123 a0001c0018t0003g0038	29	272	0.1066	315	c.899 others(332): Show c.899-9431_899-9430insTTTTTATTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCATT GCAAGCTCCGTCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCTGGCCAAGAGTTATTTTGT	TNKS	ENSG00000173273.17	transcript	ENST00000310430.11	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr8	TogoVar
TNKS_chr8_9550912_9787346	9606150	T T	TTTTTTTA others(308): Show TTTTTTTATTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCATTGCAAGCTCCGTCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACTGTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTG GCCAAGAGTTATTTTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0071 a0001c0003t0016g0071	1	272	0.0037	315	c.899 others(332): Show c.899-9431_899-9430insTTTTTATTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCATT GCAAGCTCCGTCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACTGTTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCTGGCCAAGAGTTATTTTGT	TNKS	ENSG00000173273.17	transcript	ENST00000310430.11	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr8	TogoVar
TOMM5_chr9_37583413_37597597	37594237	G G	GCCATATC others(308): Show GCCATATCTACTTCTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGACTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTTTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	315	c.-17 others(326): Show c.-1706_-1705insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAAAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCCAA AAAAAAAAAAAAAAAAAAGAAGTAGATATGG	TOMM5	ENSG00000175768.13	transcript	ENST00000321301.7	protein_coding		1641		chr9	TogoVar
TOMM7_chr7_22807974_22827849	22813858	T T	TAAAAATG others(308): Show TAAAAATGTAGCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	420	0.0024	315	c.153 others(330): Show c.153-674_153-673insTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTGGGCTACATTTTT	TOMM7	ENSG00000196683.12	transcript	ENST00000358435.9	protein_coding	2/2			chr7	TogoVar
TOX2_chr20_43909852_44074616	43956559	T T	TAAAAAAA others(308): Show TAAAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTCGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA TTAGCCGGGCGTAGTGGCGGGTGCCTGTAGCCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	288	0.0035	315	c.100 others(334): Show c.100-16792_100-16791insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTCGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAATTAGCCGGGCGTAGTGGCGGGTGCCTGTAGCCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	TOX2	ENSG00000124191.18	transcript	ENST00000341197.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
TP63_chr3_189626389_189902276	189740500	T T	TTGATTTT others(308): Show TTGATTTTTGTTTTTTTTTTTTTTGTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp2 HG02976.hp2 others(1): Show HG02559.hp1 HG02818.hp2 HG02976.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0021	a0001c0001t0002g0308 a0001c0001t0003g0084 a0001c0001t0017g0257 others(1): Show a0001c0001t0002g0308 a0001c0001t0003g0084 a0001c0001t0017g0257 a0001c0001t0021g0299	4	312	0.0128	315	c.324 others(332): Show c.324+1742_324+1743insTTTTTTTGTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTGATTTTTGTTTTTTT	TP63	ENSG00000073282.14	transcript	ENST00000264731.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
TP73_chr1_3647516_3741201	3706335	A A	AGGGGTAA others(308): Show AGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGG TAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATA GGGACAATCACGGTGCCCGCCGCAGGCCCTGGGAGAGGGGTAATAGGGAC AATCACGGTGCCCGCCGCAGGCCCTGGGAGAGGGGTAATAGGGACAATCA CGGTGCCCGCCGCAGGCCCTGGGAGAGGGGTAATAGGGACAATCACGGTG CCCGCCGCAGGCCCTGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGC CGCAGGCCCGGGGAGG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03209.hp2 HG01123.hp1 HG03209.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0031 a0001c0007t0008 a0001c0007t0031	a0001c0007t0008g0023 a0001c0007t0031g0047 a0001c0007t0008g0023 a0001c0007t0031g0047	2	358	0.0056	315	c.187 others(332): Show c.187-1170_187-1169insAGGGGTAATAGGGACAATCACGGTGCCC GCCGCAGGCCCGGGGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGC AGGCCCTGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCC CTGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCTGGG AGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCTGGGAGAGG GGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAA TAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAG	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3706455	C C	CGCAGGCC others(308): Show CGCAGGCCCGGGGAGGGGGGTAATAGGGACAATCACGGTGCCCGCTGCAG GCCCTGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCG GGGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAG GGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCTGGGAGAGGGG TAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATA GGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGGAC AATCACGGTGCCCGCT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0152 a0001c0003t0006g0152	1	358	0.0028	315	c.187 others(332): Show c.187-1080_187-1079insGGGGGTAATAGGGACAATCACGGTGCCC GCTGCAGGCCCTGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGC AGGCCCGGGGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCC CGGGGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCTGGG AGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGG GGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAA TAGGGACAATCACGGTGCCCGCTGCAGGCCCGGGGAG	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3706470	A A	AGGGGTAA others(308): Show AGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCTGGGAGAGGGG TAATAGGGACAATCACGGTGCCCGCCGCAGGCCCTGGGAGAGGGGTAATA GGGACAATCACGGTGCCCGCCGCAGGCCCTGGGAGAGGGGTAATAGGGAC AATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGGACAATCA CGGTGCCCGCCGCAGGCCCGGGGAGAGGGGTAATAGGGACAATCACGGTG CCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGGACAATCACGGTGCCCGC CGCAGGCCCGGGGAGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0313 a0001c0007t0008g0313	1	358	0.0028	315	c.187 others(332): Show c.187-1041_187-1040insTGGGAGAGGGGTAATAGGGACAATCACG GTGCCCGCCGCAGGCCCTGGGAGAGGGGTAATAGGGACAATCACGGTGCC CGCCGCAGGCCCTGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCG CAGGCCCGGGGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGC CCGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGG GAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGG GGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3706508	C C	CGGGGAGA others(308): Show CGGGGAGAGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGG AGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGG GGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAA TAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGG ACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAATAGGGACAAT CACGGTGCCCGCCGCAGGCCCGGGGAGAGGGGTAATAGGGACAATCACGG TGCCCGCCGCAGGCCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0081 a0001c0002t0049g0081	1	358	0.0028	315	c.187 others(332): Show c.187-1030_187-1029insTAATAGGGACAATCACGGTGCCCGCCGC AGGCCCGGGGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCC CGGGGAGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGG AGGGGGGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGG GGTAATAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGGGGGGTAA TAGGGACAATCACGGTGCCCGCCGCAGGCCCGGGGAGAGGGGTAATAGGG ACAATCACGGTGCCCGCCGCAGGCCTGGGGAGAGGGG	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TPCN2_chr11_69043932_69095597	69076588	A A	ACCTGCCC others(308): Show ACCTGCCCTCCTGCGGTGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCC ACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCC ACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGCCCTCCTGCCAT GTCCCTCCACCTGCCCTCCTGCCATCATGCCATGTCCCTCCACTTGCCCT CCTGCCCTCATGCCATGTCCCTCCACTTGCCCTCCTGCCCTCCTGCCATG TCCCTCCACTTGCCCTCCTGCCATGCCCCTCCACCTGCCCTCCTGCCGTG TCCCTCCACCTGCCCT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0025 a0025	a0025c0043 a0025c0043	a0025c0043t0025 a0025c0043t0025	a0025c0043t0025g0104 a0025c0043t0025g0104	1	404	0.0025	315	c.123 others(334): Show c.1231-1881_1231-1880insGGTGTCCCTCCACCTGCCCTCCTGCC GTGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGCC GTGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGCC CTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCATCATGCCATGTCCCTC CACTTGCCCTCCTGCCCTCATGCCATGTCCCTCCACTTGCCCTCCTGCCC TCCTGCCATGTCCCTCCACTTGCCCTCCTGCCATGCCCCTCCACCTGCCC TCCTGCCGTGTCCCTCCACCTGCCCTCCTGCCCTCCTGC	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TRAF3IP3_chr1_209751053_209787310	209772705	T T	TAAAAAGG others(308): Show TAAAAAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACA GTGAAACCCCGTCTCTACTAAAAAAACACAAAAAAATTAGCCGGGCGTGG TGGCGGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTGAGGCAGGAGAATG GCGTGTACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0097 a0003c0012t0001g0097	1	444	0.0023	315	c.703 others(330): Show c.703-238_703-237insGGCACGGTGGCTCATGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAAAACACAAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGAGGCT GAGGCAGGAGAATGGCGTGTACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	TRAF3IP3	ENSG00000009790.15	transcript	ENST00000367025.8	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRAK1_chr3_42086357_42230890	42168582	T T	TCTGCTTT others(308): Show TCTGCTTTCTTTTTTTTTTTTTTTTTTGTTTTTTTTTGAGACGGAGTCTC GCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGC TCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCTACCAAGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0018 a0001c0009t0018	a0001c0009t0018g0228 a0001c0009t0018g0229 a0001c0009t0018g0228 a0001c0009t0018g0229	2	288	0.0069	315	c.287 others(332): Show c.287-8215_287-8214insTTTTTTTTTGTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCTACCAAGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTGCTTTCTTTTTTTTT	TRAK1	ENSG00000182606.17	transcript	ENST00000327628.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
TRAPPC12_chr2_3374694_3484565	3438060	A A	ATCACCCC others(308): Show ATCACCCCTGAATTAATCCCCCCATCACCCCTGGATTAATACCCCATCAC CCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGG ATTAATACCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTA ATCCCCCCATCACCCCAGGATTAATACCCCATCACCCCAGGATTAATACC CCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCCAAT CACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCAGC CCTGGATTAATACCCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG00738.hp2 others(7): Show HG00323.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01433.hp2 HG02738.hp1 HG03017.hp1 HG03491.hp2 HG04115.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0002c0009 a0002c0018 others(2): Show a0002c0002 a0002c0009 a0002c0018 a0002c0021 a0005c0037	a0002c0002t0001 a0002c0009t0002 a0002c0018t0001 others(3): Show a0002c0002t0001 a0002c0009t0002 a0002c0018t0001 a0002c0018t0002 a0002c0021t0002 a0005c0037t0002	a0002c0002t0001g0207 a0002c0009t0002g0071 a0002c0009t0002g0072 others(7): Show a0002c0002t0001g0207 a0002c0009t0002g0071 a0002c0009t0002g0072 a0002c0009t0002g0122 a0002c0018t0001g0246 a0002c0018t0002g0084 a0002c0018t0002g0121 a0002c0018t0002g0123 a0002c0021t0002g0194 a0005c0037t0002g0073	10	344	0.0291	315	c.141 others(334): Show c.1418-5719_1418-5718insTCACCCCTGAATTAATCCCCCCATCA CCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTG GATTAATACCCCATCACCCCTGGATTAATACCCCCACCACCCCTGGATTA ATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATAC CCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCAC CACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCAATCACC CCTGGATTAATCCCCCCATCAGCCCTGGATTAATACCCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11			chr2	TogoVar
TRAPPC12_chr2_3374694_3484565	3438060	A A	ATCACCCC others(308): Show ATCACCCCTGAATTAATCCCCCCATCACCCCTGGATTAATACCCCATCAC CCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGG ATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCAGGATTA ATCCCCCCATCACCCCAGGATTAATACCCCATCACCCCAGGATTAATACC CCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCCAAT CACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCAGC CCTGGATTAATACCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0001 a0002c0034t0001	a0002c0034t0001g0258 a0002c0034t0001g0258	1	344	0.0029	315	c.141 others(334): Show c.1418-5719_1418-5718insTCACCCCTGAATTAATCCCCCCATCA CCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTG GATTAATACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTA ATCCCCCAATCACCCCAGGATTAATCCCCCCATCACCCCAGGATTAATAC CCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCAC CACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCAATCACC CCTGGATTAATCCCCCCATCAGCCCTGGATTAATACCCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11			chr2	TogoVar
TRAPPC12_chr2_3374694_3484565	3438060	A A	ATCACCCC others(308): Show ATCACCCCTGAATTAATCCCCCCATCACCCCTGGATTAATACCCCATCAC CCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGG ATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTA ATCCCCCCATCACCCCAGGATTAATACCCCATCACCCCAGGATTAATACC CCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCCAAT CACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCAGC CCTGGATTAATACCCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03139.hp2 HG03831.hp2 others(6): Show HG00438.hp2 HG03139.hp2 HG03831.hp2 NA18939.hp1 NA18946.hp1 NA18965.hp1 NA19066.hp1 NA19085.hp1 NA20905.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0002c0006 a0002c0013 others(2): Show a0002c0002 a0002c0006 a0002c0013 a0002c0016 a0010c0055	a0002c0002t0005 a0002c0006t0001 a0002c0006t0002 others(3): Show a0002c0002t0005 a0002c0006t0001 a0002c0006t0002 a0002c0013t0002 a0002c0016t0002 a0010c0055t0002	a0002c0002t0005g0169 a0002c0006t0001g0010 a0002c0006t0001g0019 others(6): Show a0002c0002t0005g0169 a0002c0006t0001g0010 a0002c0006t0001g0019 a0002c0006t0002g0137 a0002c0006t0002g0168 a0002c0013t0002g0131 a0002c0016t0002g0083 a0002c0016t0002g0125 a0010c0055t0002g0103	9	344	0.0262	315	c.141 others(334): Show c.1418-5719_1418-5718insTCACCCCTGAATTAATCCCCCCATCA CCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTG GATTAATACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTA ATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATAC CCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCAC CACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCAATCACC CCTGGATTAATCCCCCCATCAGCCCTGGATTAATACCCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11			chr2	TogoVar
TRAPPC12_chr2_3374694_3484565	3438060	A A	ATCACCCC others(308): Show ATCACCCCTGAATTAATCCCCCCATCACCCCTGGATTAATACCCCATCAC CCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGG ATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTA ATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCAGGATTAATACC CCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCCAAT CACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCAGC CCTGGATTAATACCCC	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA20300.hp2 HG06807.hp1 NA20300.hp2	a0002 a0002	a0002c0008 a0002c0042 a0002c0008 a0002c0042	a0002c0008t0002 a0002c0042t0002 a0002c0008t0002 a0002c0042t0002	a0002c0008t0002g0030 a0002c0042t0002g0116 a0002c0008t0002g0030 a0002c0042t0002g0116	2	344	0.0058	315	c.141 others(334): Show c.1418-5719_1418-5718insTCACCCCTGAATTAATCCCCCCATCA CCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTG GATTAATACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTA ATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATAC CCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCCAC CACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCAATCACC CCTGGATTAATCCCCCCATCAGCCCTGGATTAATACCCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11			chr2	TogoVar
TRIML1_chr4_188134441_188152743	188152188	G G	GTGAGAAG others(308): Show GTGAGAAGGGGAGTGAGAAGTGGGGTGAGAAGGGAGTGAGAGTGGGGTTG AGAAGGGGAGTGAGAGTGGGTGAGAAGGGGAGTGAGAGTGGGGTGAGAAG GGGAGTGAGAGAGGTGGTGTGAGAAGGGGAGTGAGAGAGGGGGTTGAGAA GGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGGTAGGGGGATGAGG AAGGGGAGGGTGAGAAGGGGAGTGAGAGGGGGTGAGAAGGGGAGTGAGAG TGGGGGTGAGAAGGGGAGTGAGAGTGGGGTGATGGAGAGAGTGGGGGTTG AGAAGGGAGTGAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0108 a0003c0005t0002g0108	1	228	0.0044	315	c.48 others(326): Show c.4816_*4817insTGAGAAGGGGAGTGAGAAGTGGGGTGAGAAGGGA GTGAGAGTGGGGTTGAGAAGGGGAGTGAGAGTGGGTGAGAAGGGGAGTGA GAGTGGGGTGAGAAGGGGAGTGAGAGAGGTGGTGTGAGAAGGGGAGTGAG AGAGGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGA GGTAGGGGGATGAGGAAGGGGAGGGTGAGAAGGGGAGTGAGAGGGGGTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGTGATGG AGAGAGTGGGGGTTGAGAAGGGAGTGAGAGT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4446		chr4	TogoVar
TRNAU1AP_chr1_28548085_28583545	28571786	A A	AAAAATAA others(308): Show AAAAATAAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	296	0.0034	315	c.694 others(328): Show c.694-68_694-67insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AATAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAATAAAATAAAAAATA	TRNAU1AP	ENSG00000180098.9	transcript	ENST00000373830.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRPC1_chr3_142719034_142812888	142741181	T T	TATAACTA others(308): Show TATAACTATGTATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTACTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00408.hp1 others(94): Show HG00099.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG00738.hp2 HG01070.hp1 HG01081.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02523.hp2 HG02572.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02970.hp2 HG03225.hp1 HG03239.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18984.hp1 NA18989.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19074.hp1 NA19075.hp1 NA19077.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0002c0005 others(2): Show a0001c0002 a0001c0004 a0002c0005 a0002c0009 a0003c0007	a0001c0002t0001 a0001c0004t0005 a0001c0004t0014 others(3): Show a0001c0002t0001 a0001c0004t0005 a0001c0004t0014 a0002c0005t0007 a0002c0009t0007 a0003c0007t0001	a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0012 others(82): Show a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0311 a0001c0004t0005g0017 a0001c0004t0005g0018 a0001c0004t0005g0019 a0001c0004t0005g0264 a0001c0004t0005g0265 a0001c0004t0005g0266 a0001c0004t0005g0267 a0001c0004t0005g0268 a0001c0004t0005g0270 a0001c0004t0005g0271 a0001c0004t0005g0272 a0001c0004t0005g0273 a0001c0004t0005g0274 a0001c0004t0005g0275 a0001c0004t0005g0276 a0001c0004t0005g0278 a0001c0004t0005g0310 a0001c0004t0014g0269 a0002c0005t0007g0026 a0002c0005t0007g0027 a0002c0005t0007g0028 a0002c0005t0007g0034 a0002c0005t0007g0035 a0002c0005t0007g0037 a0002c0005t0007g0070 a0002c0009t0007g0038 a0003c0007t0001g0235	97	340	0.2853	315	c.328 others(332): Show c.328-2288_328-2287insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTACT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCATAACTATGTATTTTT	TRPC1	ENSG00000144935.17	transcript	ENST00000476941.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
TRPM3_chr9_70524060_71126621	70917553	A A	ACAGTGTT others(308): Show ACAGTGTTAAGTTTTTTTGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0050 a0003c0020t0050	a0003c0020t0050g0106 a0003c0020t0050g0106	1	214	0.0047	315	c.178 others(334): Show c.178-53043_178-53042insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAACAAAAAAACTTAACACTG	TRPM3	ENSG00000083067.26	transcript	ENST00000677713.2	protein_coding	1/25			chr9	TogoVar
TRPM3_chr9_70524060_71126621	70917553	A A	ACAGTGTT others(308): Show ACAGTGTTAAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02258.hp1 HG02451.hp2 others(4): Show HG01106.hp1 HG02258.hp1 HG02451.hp2 HG02717.hp1 HG03195.hp2 HG03540.hp1 NA19240.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0008 a0003c0015 others(2): Show a0001c0001 a0001c0008 a0003c0015 a0003c0017 a0005c0014	a0001c0001t0024 a0001c0001t0032 a0001c0008t0004 others(3): Show a0001c0001t0024 a0001c0001t0032 a0001c0008t0004 a0003c0015t0033 a0003c0017t0015 a0005c0014t0013	a0001c0001t0024g0088 a0001c0001t0032g0007 a0001c0008t0004g0107 others(4): Show a0001c0001t0024g0088 a0001c0001t0032g0007 a0001c0008t0004g0107 a0003c0015t0033g0006 a0003c0017t0015g0208 a0005c0014t0013g0002 a0005c0014t0013g0005	7	214	0.0327	315	c.178 others(334): Show c.178-53043_178-53042insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAACTTAACACTG	TRPM3	ENSG00000083067.26	transcript	ENST00000677713.2	protein_coding	1/25			chr9	TogoVar
TTC13_chr1_230901243_230983861	230949404	T T	TAAAAAAA others(308): Show TAAAAAAAAAGAAGGCCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGGCGGGGGTGGATCATGAGGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGGCGGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACACCGGGAAGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCCTGGGCGACAGAGGCGA GACTCCGTCTCAAAAA	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0205 a0001c0011t0002g0205	1	336	0.0030	315	c.514 others(332): Show c.514-3951_514-3950insTTTTTGAGACGGAGTCTCGCCTCTGTCG CCCAGGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGTGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCCGCCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCCTCATGATCCACCCCCGCCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCCGGCCTTCTTTTTTTTT	TTC13	ENSG00000143643.13	transcript	ENST00000366661.9	protein_coding	4/22			chr1	TogoVar
TWIST2_chr2_238843085_238915534	238870212	C C	CACACCAC others(308): Show CACACCACACACCACACACCCCACACACACATCACACACCACACACACCA CACACACCCCACACACACCACACACACACATCACATACCACACACCCGAC ACACGCCACACACACACCATACACCCCCCACACACCACACCCCACACACC ATACACACCACACACCCCACACACACCACACACCCCACACACACCACACC CCATACACACCACACCCCACACACACCACACACCCCACACACACCACACA CCCCACACACACCACACAAACCACACACACCACACACCCCACACACACCA CACACACACATCACAT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	338	0.0030	315	c.35 others(334): Show c.35+21479_*35+21480insACACCACACACCACACACCCCACACA CACATCACACACCACACACACCACACACACCCCACACACACCACACACAC ACATCACATACCACACACCCGACACACGCCACACACACACCATACACCCC CCACACACCACACCCCACACACCATACACACCACACACCCCACACACACC ACACACCCCACACACACCACACCCCATACACACCACACCCCACACACACC ACACACCCCACACACACCACACACCCCACACACACCACACAAACCACACA CACCACACACCCCACACACACCACACACACACATCACAT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
UAP1_chr1_162556722_162606240	162572612	T T	TAAAAAGA others(308): Show TAAAAAGAACAGAGGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTA ACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGA GGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCCAGGGGGCGGAGGCTGCAGTGAGCCGAGATTGCGCCAC TGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0270 a0003c0004t0001g0270	1	412	0.0024	315	c.281 others(332): Show c.281-4152_281-4151insGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCCAGGGGGCGGAGGCTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACAGAG	UAP1	ENSG00000117143.14	transcript	ENST00000367925.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE2E2_chr3_23198327_23596794	23256656	T T	TAAGACTA others(308): Show TAAGACTAAGGTCGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAAATTA GCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTGAG GCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	336	0.0030	315	c.227 others(334): Show c.227+39356_227+39357insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATA CAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGC GGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAGACTAAGGTC	UBE2E2	ENSG00000182247.11	transcript	ENST00000396703.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
UGT2B7_chr4_69091474_69117987	69092875	T T	TAAAATAG others(308): Show TAAAATAGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0027 a0001c0008t0001g0027	1	424	0.0024	315	c.-36 others(326): Show c.-3646_-3645insAAAATAGTTGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	UGT2B7	ENSG00000171234.14	transcript	ENST00000305231.12	protein_coding		3598		chr4	TogoVar
ULK1_chr12_131889622_131928150	131917078	G G	GGGCTCGG others(308): Show GGGCTCGGAGGCTGTGGGACGGGGGTTGGGGGGAGCTCGGAGGCTGTGGG ATGGGGCTTGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTC GGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTG TGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGG GGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGTCGGGT TCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GATGGGGGTCGGGTTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0214 a0002c0004t0004g0214	1	344	0.0029	315	c.218 others(330): Show c.2182+34_2182+35insCGGGGGTTGGGGGGAGCTCGGAGGCTGTGG GATGGGGCTTGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGT CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCT GTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATG GGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917081	C C	CTCGGAGG others(308): Show CTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGG CTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGA CGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTC GGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGG GGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGA GGCTGTGGGACGGGGG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0302 a0001c0001t0002g0302	1	344	0.0029	315	c.218 others(330): Show c.2182+34_2182+35insCGGGGGTCGGAGGCTGTGGGATGGGGCTCG GAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGT GGGACGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGG GGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAG GCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGG ATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCT CGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917081	C C	CTCGGAGG others(308): Show CTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGG CTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGA TGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTC GGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTG TGGGACGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGG GGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGA GGCTGTGGGATGGGGG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0167 a0001c0001t0008g0167	1	344	0.0029	315	c.218 others(330): Show c.2182+34_2182+35insCGGGGGTCGGAGGCTGTGGGATGGGGCTCG GAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGT GGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGG GGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAG GCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGG ACGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGT CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UMAD1_chr7_7635752_7884223	7678973	T T	TTTAGTTT others(308): Show TTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTA TTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTATTTA GTTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTATTTAGTTTATAAATATTTACATATTTAGTTT ATAAATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAA ATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTT ATAAATACATATTTAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0120 a0001c0001t0044g0120	1	250	0.0040	315	c.82+ others(330): Show c.82+5520_82+5521insTTAGTTTATAAATATATATTTATATATTTA GTTTATAAATATATATTTATTTAGTTTATAAATATATATTTATTTAGTTT ATAAATATATATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAA ATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAA ATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATACATATTTAC	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3			chr7	TogoVar
UNC13C_chr15_53973441_54633605	54156777	C C	CAAAACTA others(308): Show CAAAACTAGACATATTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGT AGCCGGGCGTGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGTGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAA AAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03225.hp1 HG03486.hp1 others(3): Show HG02615.hp1 HG03225.hp1 HG03486.hp1 HG03927.hp1 NA18954.hp1 NA19030.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0039 a0001c0001 a0001c0002 a0010c0039	a0001c0001t0002 a0001c0001t0007 a0001c0001t0059 others(2): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0059 a0001c0002t0051 a0010c0039t0001	a0001c0001t0002g0074 a0001c0001t0002g0144 a0001c0001t0007g0016 others(3): Show a0001c0001t0002g0074 a0001c0001t0002g0144 a0001c0001t0007g0016 a0001c0001t0059g0147 a0001c0002t0051g0157 a0010c0039t0001g0037	6	158	0.0380	315	c.307 others(336): Show c.3071+13110_3071+13111insGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAGTAGCCGGGCGTGGTGGCGCGCGCCTGTAGTCCCAGCTACACGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGTCGTGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAACTAGACATATTTG	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC80_chr2_209766832_210004296	209903554	T T	TATATATA others(308): Show TATATATACTATATATATTATATATAGTATATATGTAATATATATACTAT ATATATTATATATAGTATATATGTAATATATATACTATATATATTATATA TAGTATATATGTAATATATATACTATATATAGTATATATGTAATATATAT ACTATATATAGTATATATGTAATATATATATACTATATATAGTATATATG TAATATATATACTATATATAGTATATATGTAATATATACTATATATAGTA TATATGTAATATATATACTATATATAGTATATATGTAATATATATACTAT ATATAGTATATATGTA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00642.hp1 others(16): Show HG00544.hp2 HG00597.hp1 HG00642.hp1 HG01070.hp2 HG01167.hp2 HG01168.hp1 HG01891.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02523.hp1 HG02738.hp2 HG03492.hp2 NA18957.hp2 NA18979.hp1 NA18991.hp2 NA18995.hp1 NA19056.hp2 NA20752.hp2	a0001 a0007 a0010 a0001 a0007 a0010	a0001c0001 a0001c0002 a0001c0014 others(4): Show a0001c0001 a0001c0002 a0001c0014 a0001c0040 a0001c0042 a0007c0036 a0010c0053	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 a0001c0014t0001 a0001c0040t0002 a0001c0042t0003 a0007c0036t0001 a0010c0053t0001	a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0002g0066 others(16): Show a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0002g0066 a0001c0001t0002g0119 a0001c0001t0004g0157 a0001c0001t0004g0166 a0001c0001t0012g0177 a0001c0002t0001g0050 a0001c0002t0001g0105 a0001c0002t0001g0124 a0001c0002t0002g0070 a0001c0002t0004g0152 a0001c0002t0009g0069 a0001c0014t0001g0040 a0001c0014t0001g0042 a0001c0040t0002g0120 a0001c0042t0003g0162 a0007c0036t0001g0063 a0010c0053t0001g0031	19	188	0.1011	315	c.458 others(334): Show c.4582-1204_4582-1203insCTATATATATTATATATAGTATATAT GTAATATATATACTATATATATTATATATAGTATATATGTAATATATATA CTATATATATTATATATAGTATATATGTAATATATATACTATATATAGTA TATATGTAATATATATACTATATATAGTATATATGTAATATATATATACT ATATATAGTATATATGTAATATATATACTATATATAGTATATATGTAATA TATACTATATATAGTATATATGTAATATATATACTATATATAGTATATAT GTAATATATATACTATATATAGTATATATGTAATATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64		INFO_REALIGN_3_PRIME	chr2	TogoVar

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