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
SORCS3_chr10_104636290_105270242	104678170	T T	TAAGAATA others(305): Show TAAGAATACACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCTT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGTG CCACTGCAATCCGGCCTGGGCTAAAGAGCGGGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0003 a0012c0012t0001g0003	1	134	0.0075	312	c.627 others(331): Show c.627+36226_627+36227insGGCTGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGA TCGAGACCATCTTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTG AGCCAAGATTGTGCCACTGCAATCCGGCCTGGGCTAAAGAGCGGGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAGAATACAC	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104807121	T T	TGGACTGT others(305): Show TGGACTGTTGCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGACTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19043.hp1 HG03130.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0001 a0001c0002t0003 a0001c0003t0001	a0001c0002t0003g0120 a0001c0003t0001g0119 a0001c0002t0003g0120 a0001c0003t0001g0119	2	134	0.0149	312	c.628 others(331): Show c.628-35657_628-35656insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCACCCGCTACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCGGACTGTTGCTTTT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SOX6_chr11_15961449_16361546	16064438	T T	TAAAAATC others(305): Show TAAAAATCATCTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCGGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0044 a0001c0001t0031g0044	1	218	0.0046	312	c.110 others(331): Show c.1102-8538_1102-8537insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCGAGAGATGATTTTT	SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	9/15			chr11	TogoVar
SPAAR_chr9_35904490_35916686	35913472	T T	TTGCTGTG others(305): Show TTGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTATTTTTTTAT GCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTTTTTGTATGC TGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGT ATGCTGTAGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTT TTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGT GTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGT GTGTGTTTTTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 NA19240.hp1 HG03209.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	2	420	0.0048	312	c.27 others(323): Show c.2781_*2782insTGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAG TGTGTATTTTTTTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTG TGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAG TGTGTGTGTTTTTGTATGCTGTAGTGTGTGTGTAAGCTGTATGTGTGTAG TGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGT GTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTAT GTGTGTAGTGAGTGTGTGTGTTTTTGTA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		1787		chr9	TogoVar
SPDL1_chr5_169578773_169609778	169608611	T T	TTTGTGTG others(305): Show TTTGTGTGTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	398	0.0025	312	c.44 others(323): Show c.4404_*4405insTTGTGTGTCTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCC	SPDL1	ENSG00000040275.17	transcript	ENST00000265295.9	protein_coding		3834		chr5	TogoVar
SPECC1L_chr22_24265831_24422738	24306374	T T	TTAATTTT others(305): Show TTAATTTTTTAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03834.hp2 HG04115.hp2 HG03654.hp2 HG03834.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0036 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0036	3	326	0.0092	312	c.153 others(329): Show c.153+4008_153+4009insTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTAATTTTTTAATTTTTTT	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(305): Show AGGGGAGGGGAGGGGAGGGGAGGGAGGGAGGGGAGGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGAGGGAGGGGGAGGGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGAGGGGGAGGGGAGGGGAGGGGAGG GGAGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0098 a0003c0003t0002g0098	1	260	0.0039	312	c.138 others(331): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCTCCCCTCCCCCTCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCTCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(305): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0026 a0026	a0026c0019 a0026c0019	a0026c0019t0002 a0026c0019t0002	a0026c0019t0002g0138 a0026c0019t0002g0138	1	260	0.0039	312	c.138 others(331): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(305): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAAGGGAGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0087 a0003c0003t0002g0087	1	260	0.0039	312	c.138 others(331): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(305): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02683.hp2 HG02300.hp2 HG02683.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0004 a0003c0003t0001 a0003c0003t0004	a0003c0003t0001g0126 a0003c0003t0004g0076 a0003c0003t0001g0126 a0003c0003t0004g0076	2	260	0.0077	312	c.138 others(331): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCK3_chr4_166728384_167239494	167108995	T T	TATAAAAA others(305): Show TATAAAAATATATATAAATATATATTTATATAAAAATATATATAAATATA TATATATATAAATATATATAAATATATATTTATATAAAAATATATATAAA TATATATTTATATAAAAATATATATAAATATATATTTATATAAAAATATA TATAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAA AATATATATAAATATATATTTATATATAAATATATATAAATATATATTTA TATATAAATATATATAAATATATATTTATATAAAAATATATATAAATATA TATTTATATATAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0143 a0001c0001t0007g0143	1	144	0.0069	312	c.190 others(331): Show c.190-46459_190-46458insTTATATATAAATATATATTTATATAT ATTTTTATATAAATATATATTTATATATATTTATATATAAATATATATTT ATATATATTTATATATAAATATATATTTATATATATTTTTATATAAATAT ATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATAT AAATATATATTTATATATATTTTTATATAAATATATATTTATATATATTT TTATATAAATATATATTTATATATATTTATATATATATATATTTATATAT ATTTTTATATAAATATATATTTATATATATTTTTAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPRTN_chr1_231333293_231360023	231357447	T T	TGAGATCA others(305): Show TGAGATCATACTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02109.hp2 others(2): Show HG02055.hp1 HG02109.hp1 HG02109.hp2 HG03041.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0031 a0001c0001t0002g0084 a0001c0001t0010g0071 others(1): Show a0001c0001t0002g0031 a0001c0001t0002g0084 a0001c0001t0010g0071 a0001c0001t0010g0085	5	352	0.0142	312	c.40 others(323): Show c.4086_*4087insGAGATCATACTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCC	SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding		2425		chr1	TogoVar
SRP54_chr14_34977992_35034567	35009343	G G	GCCACACA others(305): Show GCCACACACATATTCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0221	1	396	0.0025	312	c.485 others(327): Show c.485+522_485+523insATTCTTTGTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCACACACAT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRPX_chrX_38144339_38225871	38151459	T T	TAAGAAAT others(305): Show TAAGAAATTGGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGAGCGGTGGCGGGCTCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCA GGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACGCTGTCTCAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	257	0.0039	312	c.121 others(331): Show c.1212-1566_1212-1565insTTTTTTTTTTTTTTTTTTTTGAGACA GCGTCTGGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCT CAAGTAGCTGGGACTACAGGAGCCCGCCACCGCTCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCACGCCCGGCCTCCAATTTCTT	SRPX	ENSG00000101955.15	transcript	ENST00000378533.4	protein_coding	9/9			chrX	TogoVar
SRXN1_chr20_641615_658200	642330	G G	GCCCAGCG others(305): Show GCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTG CCTGGGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCC CAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGTGGCCCAGCGGGGG TGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGCGGGGGG GCCCAGCGGGGGTGGAGTTGCCGGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0026 a0001c0002t0009g0026	1	422	0.0024	312	c.63 others(323): Show c.6383_*6384insGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCCGGCAACTCCACCCCCGCTGGGCCCCCCCGCAGGCAACTCCACC CCCGCTGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCACCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCACAGGCAACTCCACCCCCGCTGG GCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCAGGCAACCCCACCCCCGCTGGG	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4284		chr20	TogoVar
SSR2_chr1_156004048_156025951	156004603	C C	CCTCCTGC others(305): Show CCTCCTGCCTCAGCCTCCTGAGTAGAAGGGAGCATGATTTACCCAAGGTC ATACAGCCAGTGAGTGGTGGAGTTGGGGCGGGACCCAGTACTCCTGCCTC TGGCATACGTTGCTTCCCCCACTCTTAGCTGCTCTCTCAAGGGACTAAGC CTTGGTAACTTCTCATCCTTTCACTGAATCGCTCCATTACTTCCAGCTTT GTAGAAATTCTTTTTTTTTTTTTTGAGATGGAGTTTCACTTTTTTATCCA GGCTGGAGTGCAACGGCATGATCTTGGCTCACTGCAACCTCCGCCCACCG GGTTCAAGTGATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(231): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19009.hp2 NA19030.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19066.hp2 NA19067.hp2 NA19076.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0003 a0001c0001 a0002c0004 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0004t0001 a0003c0003t0003	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(153): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0002g0009 a0001c0001t0002g0018 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0182 a0001c0001t0002g0189 a0001c0001t0005g0161 a0002c0004t0001g0102 a0003c0003t0003g0180	234	356	0.6573	312	c.49 others(323): Show c.4936_*4937insAATCACTTGAACCCGGTGGGCGGAGGTTGCAGTG AGCCAAGATCATGCCGTTGCACTCCAGCCTGGATAAAAAAGTGAAACTCC ATCTCAAAAAAAAAAAAAAGAATTTCTACAAAGCTGGAAGTAATGGAGCG ATTCAGTGAAAGGATGAGAAGTTACCAAGGCTTAGTCCCTTGAGAGAGCA GCTAAGAGTGGGGGAAGCAACGTATGCCAGAGGCAGGAGTACTGGGTCCC GCCCCAACTCCACCACTCACTGGCTGTATGACCTTGGGTAAATCATGCTC CCTTCTACTCAGGAGGCTGAGGCAGGAG	SSR2	ENSG00000163479.14	transcript	ENST00000295702.9	protein_coding		4444		chr1	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(305): Show GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT ATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0117 a0001c0001t0004g0117	1	268	0.0037	312	c.75 others(323): Show c.7501_*7502insATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATATTATATATGATTATAAAATATAATTATATAT GATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATT ATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUPT3H_chr6_44821726_45382934	45071281	C C	CAAGAAAA others(305): Show CAAGAAAATCTAAATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02602.hp1 HG03710.hp1 others(1): Show HG02109.hp2 HG02602.hp1 HG03710.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0009g0056 others(1): Show a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0009g0056 a0001c0001t0009g0057	4	262	0.0153	312	c.186 others(331): Show c.186+34640_186+34641insTTTTTTTTTTTTTTTGAGACAGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTAATTTAGATTTTCTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	3/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45292725	T T	TAAAAAAG others(305): Show TAAAAAAGACAAGGAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0215 a0001c0001t0004g0215	1	262	0.0038	312	c.101 others(331): Show c.101+72475_101+72476insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCCCTCCTTGTCTTTTTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATATACA others(305): Show TATATACATATATACACATATGTGTACATATGTGTATATATACATATATA TACACATATATATGTATATATACACATATGTGAATATGTATATATGTGTT ATATATACACATATGTGTATATGTATATATACATATATACACATATGTGT ATATATACATATATACATATACACATATGTGTATATATACATATATACAT ATACACATATGTGTATATATAACACATATATACACATATGTGTATATATA ACACATATATACACATATGTGTATATATACATATATACATATACACATAT GTGTATATATAAC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0188 a0001c0001t0024g0188	1	376	0.0027	312	c.158 others(331): Show c.1582-2860_1582-2859insCATATATACACATATGTGTACATATG TGTATATATACATATATATACACATATATATGTATATATACACATATGTG AATATGTATATATGTGTTATATATACACATATGTGTATATGTATATATAC ATATATACACATATGTGTATATATACATATATACATATACACATATGTGT ATATATACATATATACATATACACATATGTGTATATATAACACATATATA CACATATGTGTATATATAACACATATATACACATATGTGTATATATACAT ATATACATATACACATATGTGTATATATAACATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYNPR_chr3_63273308_63621924	63555274	A A	AAGAAAAA others(305): Show AAGAAAAACACTTCCTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00438.hp2 others(40): Show HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00741.hp1 HG01106.hp2 HG01257.hp2 HG01433.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02129.hp1 HG02165.hp1 HG03486.hp1 HG03491.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18946.hp2 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18966.hp1 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp2 NA19007.hp1 NA19068.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0002c0002t0003	a0001c0001t0001g0005 a0001c0001t0001g0041 a0001c0001t0001g0057 others(40): Show a0001c0001t0001g0005 a0001c0001t0001g0041 a0001c0001t0001g0057 a0001c0001t0001g0076 a0001c0001t0001g0177 a0001c0001t0001g0187 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0073 a0001c0001t0002g0078 a0001c0001t0002g0115 a0001c0001t0002g0126 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0156 a0001c0001t0002g0160 a0001c0001t0002g0181 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0211 a0001c0001t0003g0003 a0001c0001t0003g0010 a0001c0001t0003g0028 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0093 a0001c0001t0003g0100 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0194 a0001c0001t0006g0235 a0001c0001t0006g0236 a0001c0001t0007g0182 a0001c0001t0009g0238 a0002c0002t0003g0135 a0002c0002t0003g0136	43	246	0.1748	312	c.210 others(329): Show c.210-1262_210-1261insCACTTCCTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCAGAAAAA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAFA5_chr22_48484553_48756932	48620601	A A	ACCCATCC others(305): Show ACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCAC CATCCACCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCC CCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCC ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC ACCCACCATCCACCATCCTATCCACCCACCCACCATCCACCATCCATCCA CCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCAC CCACCCACCATCC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	258	0.0039	312	c.113 others(331): Show c.113-25935_113-25934insTATCCACCCACCCACCATCCACCATC CATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCA TCCTATCCACCCACCCACCATCCACCATCCTATCCACCCACCCACCATCC ACCATCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACC CATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCAT CCCCCATCCTATCCACCCACCCACCATCCACCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620601	A A	ACCCATCC others(305): Show ACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCAC CATCCCCCATCCTATCCACCCACCCACCATCCACCATCCTATCCACCCAC CCACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTCAC CCCCATACCCATCCTATCCACCCACCCACCATCCCCTATCCTATCCACCC ACCCACCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATCCA CCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCAC CCACCCACCATCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	258	0.0039	312	c.113 others(331): Show c.113-25942_113-25941insCCCATCCTATCCACCCACCCACCATC CACCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCCAC ATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCA TCCCCTATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCC ACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTCACCC CCATACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCAC CCACCATCCCCCATCCTATCCACCCACCCACCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620629	C C	CCCATCCT others(305): Show CCCATCCTATCCACCCACCCACCATCCACCATCCTATCCACCCACCCACC ATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTCACCCCCA TACCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCA CCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACC CCCACATCCATCCTATCTACTCACCCCCATACCCATCCTATCCACCCACC CACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACC CACCCACCATCCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00438.hp2 others(7): Show HG00280.hp2 HG00408.hp1 HG00438.hp2 HG01993.hp1 HG02155.hp2 NA18612.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0026	a0001c0001t0001g0059 a0001c0001t0001g0114 a0001c0001t0001g0128 others(7): Show a0001c0001t0001g0059 a0001c0001t0001g0114 a0001c0001t0001g0128 a0001c0001t0001g0170 a0001c0001t0001g0214 a0001c0001t0001g0249 a0001c0001t0002g0213 a0001c0001t0005g0080 a0001c0001t0008g0087 a0001c0001t0026g0126	10	258	0.0388	312	c.113 others(331): Show c.113-25935_113-25934insTATCCACCCACCCACCATCCACCATC CATCCACCACCCCCACATCCATCCTATCTACTCACCCCCATACCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCA TCCTATCCACCCACCCACCATCCACCATCCATCCACCACCCCCACATCCA TCCTATCTACTCACCCCCATACCCATCCTATCCACCCACCCACCATCCCC CATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCAT CCACCATCCTATCCACCCACCCACCATCCACCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAS2R19_chr12_11016619_11027620	11026424	T T	TGAAAGTA others(305): Show TGAAAGTATAATTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAA ACCCCGTCTCTACTAAAAAAAAAAAATACAAAAAATTAGCCGGGCGTGGT AGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 NA19084.hp1 HG03831.hp2 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	2	417	0.0048	312	c.-38 others(323): Show c.-3854_-3853insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC AGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CGGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTT GTATTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCTTCAATTATACTTTC	TAS2R19	ENSG00000212124.2	transcript	ENST00000390673.2	protein_coding		3805		chr12	TogoVar
TAS2R1_chr5_9622347_9635351	9627368	T T	TATGAATT others(305): Show TATGAATTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0032 a0001c0008t0032	a0001c0008t0032g0000 a0001c0008t0032g0000	1	458	0.0022	312	c.17 others(323): Show c.1764_*1765insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAGAATTCAT	TAS2R1	ENSG00000169777.7	transcript	ENST00000382492.4	protein_coding	1/1	1764		chr5	TogoVar
TAS2R31_chr12_11025387_11036407	11026424	T T	TGAAAGTA others(305): Show TGAAAGTATAATTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAA ACCCCGTCTCTACTAAAAAAAAAAAATACAAAAAATTAGCCGGGCGTGGT AGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 NA19084.hp1 HG03831.hp1 NA19084.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0000 a0003c0002t0001g0000	2	443	0.0045	312	c.39 others(323): Show c.3981_*3982insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC AGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CGGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTT GTATTTTTTTTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCTTCAATTATACTTTC	TAS2R31	ENSG00000256436.1	transcript	ENST00000390675.2	protein_coding		3962		chr12	TogoVar
TBC1D32_chr6_121074494_121339480	121182738	T T	TAGAATTA others(305): Show TAGAATTATAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0017 a0007c0008t0017	a0007c0008t0017g0074 a0007c0008t0017g0074	1	292	0.0034	312	c.257 others(333): Show c.2571-21683_2571-21682insTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCTTATAATTCT	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	22/31			chr6	TogoVar
TBXAS1_chr7_139824264_140025293	139950658	T T	TCCCTCGC others(305): Show TCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCC CCTCGCCCTCCATCTACGGGACCCCCTCACCCTCCATCTACGGGACCCCC TCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTC ACCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGC CCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCC TCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTC CATCTACGGGACC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0078 a0001c0012t0001g0078	1	270	0.0037	312	c.451 others(329): Show c.451-2705_451-2704insGCCCTCCATCTACGGGACCCCCTCGCCC TCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCACCCTC CATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCA TCTACGGGACCCCCTCACCCTCCATCTACGGGACCCCCTCGCCCTCCATC TACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTA CGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACG GGACCCCCTCGCCCTCCATCTACGGGACCCCCTC	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139950664	A A	ACCCTCCA others(305): Show ACCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGC CCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCC TCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTC CATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCA TCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATC TACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTA CGGGACCCCCTCG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0267 a0003c0003t0001g0267	1	270	0.0037	312	c.451 others(329): Show c.451-2558_451-2557insCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCT ACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTAC GGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGG GACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGA CCCCCTCGCCCTCCATCTACGGGACCCCCTCGCC	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TCF3_chr19_1604292_1657615	1628186	C C	CGGGGGTG others(305): Show CGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGGGCGGG AAGGGGACAGCAGAACTCACAGGGGGTGAGGTGGGAAGGGGACAGCAGAG CTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAG GCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCA GAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGG GGCGGGAAGGGGACAGCAGAACTCACAGGGGGTGAGGTGGGAAGGGGACA GCAGAGCTCACAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0204 a0001c0005t0001g0204	1	352	0.0028	312	c.299 others(327): Show c.299-761_299-760insCTGTGAGCTCTGCTGTCCCCTTCCCACCTC ACCCCCTGTGAGTTCTGCTGTCCCCTTCCCGCCCCACCCCCTGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGC CTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCT CTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCC CACCTCACCCCCTGTGAGTTCTGCTGTCCCCTTCCCGCCCCACCCCCTGT GAGCTCTGCTGTCCCCTTCCCGCCTCACCCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628871	C C	CAGGGGGT others(305): Show CAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAA CTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGC GGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCA GAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGA GGCGGGAAGGGGACAGTAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACA GCAGAACTCACAG	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0039 a0001c0005t0039	a0001c0005t0039g0014 a0001c0005t0039g0014	1	352	0.0028	312	c.299 others(329): Show c.299-1446_299-1445insCTGTGAGTTCTGCTGTCCCCTTCCCGCC TCACCCCCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCC GCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAG TTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGTTCTGCTGTCCCCTT CCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTG TGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TENM2_chr5_166974029_168269157	167635941	G G	GCCCAGTC others(305): Show GCCCAGTCTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02451.hp1 others(1): Show HG01891.hp1 HG02055.hp1 HG02451.hp1 HG02630.hp1	a0001 a0004 a0001 a0004	a0001c0007 a0001c0015 a0001c0026 others(1): Show a0001c0007 a0001c0015 a0001c0026 a0004c0025	a0001c0007t0017 a0001c0015t0002 a0001c0026t0002 others(1): Show a0001c0007t0017 a0001c0015t0002 a0001c0026t0002 a0004c0025t0014	a0001c0007t0017g0030 a0001c0015t0002g0051 a0001c0026t0002g0052 others(1): Show a0001c0007t0017g0030 a0001c0015t0002g0051 a0001c0026t0002g0052 a0004c0025t0014g0048	4	54	0.0741	312	c.503 others(333): Show c.503-240031_503-240030insTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCCCAGTCTTTTCTT	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
THAP4_chr2_241579405_241642158	241590592	T T	TCAGAACT others(305): Show TCAGAACTGCCCGGCTGATGATGAGGGGCACTAGGACACTCAGAGCTGCT CGGCTGACGATGATGGGCACTAGGACACACAGAGCTGCTCGGCTGACGAT GATGGGCACTAGGACACACAGAGCTGCTCGGCTGACGATGATGGGCACTA GGACACTCAGAGCTGCTCGGCTGACGATGATGGGCACTAGGACACACAGA ACTGCCCGGCTGACGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCT GATGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGG GCACTAGGACACA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0171 a0002c0004t0001g0171	1	390	0.0026	312	c.161 others(331): Show c.1615-5868_1615-5867insTGTGTCCTAGTGCCCATCATCATCAG CCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTC TGAGTGTCCTAGTGCCCATCATCGTCAGCCGGGCAGTTCTGTGTGTCCTA GTGCCCATCATCGTCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCAT CGTCAGCCGAGCAGCTCTGTGTGTCCTAGTGCCCATCATCGTCAGCCGAG CAGCTCTGTGTGTCCTAGTGCCCATCATCGTCAGCCGAGCAGCTCTGAGT GTCCTAGTGCCCCTCATCATCAGCCGGGCAGTTCTG	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	5/5			chr2	TogoVar
THAP4_chr2_241579405_241642158	241590661	C C	CTAGGACA others(305): Show CTAGGACACACAGAGCTGCTCGGCTGACGATGATGGGCACTAGGACACTC AGAGCTGCTCGGCTGACGATGATGGGCACTAGGACACACAGAACTGCCCG GCTGACGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATGA TGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGG ACACACAGAGCTGCTTGGCTGATGATGATGGGCACTAGGACACTCAGAGC TGCCCGGCTGACGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGA TGATGATGGGCAG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0165 a0002c0004t0001g0165	1	390	0.0026	312	c.161 others(331): Show c.1615-5937_1615-5936insCTGCCCATCATCATCAGCCGAGCAGC TCTGAGTGTCCTAGTGCCCATCATCGTCAGCCGGGCAGCTCTGAGTGTCC TAGTGCCCATCATCATCAGCCAAGCAGCTCTGTGTGTCCTAGTGCCCATC ATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCG AGCAGCTCTGAGTGTCCTAGTGCCCATCATCGTCAGCCGGGCAGTTCTGT GTGTCCTAGTGCCCATCATCGTCAGCCGAGCAGCTCTGAGTGTCCTAGTG CCCATCATCGTCAGCCGAGCAGCTCTGTGTGTCCTA	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	5/5			chr2	TogoVar
THBS2_chr6_169210785_169258846	169242951	C C	CCCACCGC others(305): Show CCCACCGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTC CCACCACTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTC CCACATTCCCACCTTCCCACATTCCCACCTTCCCACCACTCCCACCTTCC CACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCC ACCTTCCCACATTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCA CCTTCCCACCACTCCTACCTTCCTACCTTCCCACCGCTCCCACATTCTCA CCTTCCCACCTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00544.hp2 others(37): Show HG00140.hp1 HG00408.hp2 HG00544.hp2 HG01255.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02523.hp2 HG03654.hp2 HG03710.hp2 HG03927.hp1 NA18939.hp1 NA18945.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18966.hp2 NA18970.hp1 NA18980.hp1 NA18995.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp1 NA19009.hp2 NA19011.hp1 NA19056.hp2 NA19057.hp1 NA19067.hp1 NA19070.hp1 NA19081.hp1 NA19083.hp1 NA19088.hp1 NA19091.hp1	a0001 a0015 a0023 a0001 a0015 a0023	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0015c0038 a0023c0031	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0002t0022 a0001c0006t0006 a0015c0038t0003 a0023c0031t0001	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(32): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0003g0097 a0001c0001t0003g0168 a0001c0001t0003g0221 a0001c0001t0003g0245 a0001c0001t0004g0055 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0094 a0001c0001t0004g0098 a0001c0001t0004g0105 a0001c0002t0002g0085 a0001c0002t0002g0113 a0001c0002t0022g0095 a0001c0006t0006g0075 a0001c0006t0006g0170 a0001c0006t0006g0183 a0015c0038t0003g0201 a0023c0031t0001g0050	40	396	0.1010	312	c.695 others(327): Show c.695-994_695-993insAAAGGTGGGAAGGTGAGAATGTGGGAGCGG TGGGAAGGTAGGAAGGTAGGAGTGGTGGGAAGGTGGGAAGGTGGGAGCAG TGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTG GGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTG GGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGG AGCAGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGGG AAGATGGGAAGGTGGGAAGGTGGGAGCGGTGG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THEG_chr19_356747_381026	376799	G G	GCCTCCAC others(305): Show GCCTCCACCCAGCCTCTCCCCCGTGTGCCCCACCCAGCCTCTCCCCCCTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCT GTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTC TCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	370	0.0027	312	c.-83 others(321): Show c.-830_-829insGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGG CACACGGGGGAGAGGCTGGGTGGAGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		774		chr19	TogoVar
TMEM114_chr16_8564500_8595511	8564907	G G	GAGGGAGG others(305): Show GAGGGAGGGAGGGAGGGAGGGAATGAGTGAATGAGTGAGTGAGTGAATTA GTGAGTGAATGAATGAGTGAGTGAGGGAATGAGTAAATGAGTGAGTGAAC GAGTAAGTAAATGAGTGAGTGAATGAGTGAATGAGTGAGTGAGGGAGGGC GGGAGGGAATGAGTGAGTGAATGAGTATGTGAATGAGTAAATGAGTGACT GAATGAGTGAGTGAATGAGTAAATGAGTGAGTGAGTGAATGAGTGAGGAA ATAAGTAAGTGAATGAGTGAGTTAGTGAATGAGTGAGTGAATGAGTTAGT GAATGAGTGAGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	416	0.0024	312	c.48 others(323): Show c.4865_*4866insTACTCACTCATTCACTAACTCATTCACTCACTCA TTCACTAACTCACTCATTCACTTACTTATTTCCTCACTCATTCACTCACT CACTCATTTACTCATTCACTCACTCATTCAGTCACTCATTTACTCATTCA CATACTCATTCACTCACTCATTCCCTCCCGCCCTCCCTCACTCACTCATT CACTCATTCACTCACTCATTTACTTACTCGTTCACTCACTCATTTACTCA TTCCCTCACTCACTCATTCATTCACTCACTAATTCACTCACTCACTCATT CACTCATTCCCTCCCTCCCTCCCTCCCT	TMEM114	ENSG00000232258.7	transcript	ENST00000620492.5	protein_coding		4592		chr16	TogoVar
TMEM120B_chr12_121707752_121787068	121747693	G G	GCTGGGGT others(305): Show GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCAC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0106 a0001c0001t0005g0106	1	314	0.0032	312	c.189 others(327): Show c.189-594_189-593insTCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM178B_chr7_141069064_141485380	141337156	C C	CAGCATCA others(305): Show CAGCATCACCACCACCATCATCACCACCACCACCACCACCACCACCACCA TCACCACCACCACCACCACCAGCATCACCACCACCACCACCACCACCACC ATCACCACCGCCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCACCAGCATCACCACCATCACCACCACCACCACCACCATCACCACCA GCATCACCACCATCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCAGCATCACCACCATCACCACCATCACCACCAC CACCACCATCACT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0044 a0001c0002t0011g0044	1	80	0.0125	312	c.497 others(333): Show c.497-100451_497-100450insGCATCACCACCACCATCATCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAGCATC ACCACCACCACCACCACCACCACCATCACCACCGCCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCAGCATCACCACCATCACCA CCACCACCACCACCATCACCACCAGCATCACCACCATCACCACCACCATC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCAGCATCAC CACCATCACCACCATCACCACCACCACCACCATCACTA	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
TMEM39B_chr1_32067939_32107863	32078803	G G	GCTACTTT others(305): Show GCTACTTTTTGTATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp2 HG00639.hp2 HG01070.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0018 a0001c0004t0001g0019 a0001c0004t0001g0018 a0001c0004t0001g0019	2	336	0.0060	312	c.590 others(329): Show c.590+1502_590+1503insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTACTTTTTGTATTTTT	TMEM39B	ENSG00000121775.18	transcript	ENST00000336294.10	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(305): Show TTATATATACATATATATTCTTTTATATATTTATATATAAATATATATTC TTTTATATATTTATATATAAATATATATTCTTTTATATATTTATATATAA ATATATATTTTTATATATTTATATATAAATATATATTCTTTTATATATTT ATATATATATTTATATATAAATATATATTCTTTTATATATATATAAATAT ATATTCTTTTATATATTTATATATAAATATATATTCTTTTATATATTTAT ATATAAATATATATTCTTTTATATATTTATATATAAATATATATTCTTTT ATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01168.hp1 HG00609.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0140 a0001c0001t0001g0113 a0001c0001t0001g0140	2	348	0.0058	312	c.11 others(325): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATAAATATATAAAAGAATATATATTTATATATATATAAA AGAATATATATTTATATATAAATATATATATAAATATATAAAAGAATATA TATTTATATATAAATATATAAAAATATATATTTATATATAAATATATAAA AGAATATATATTTATATATAAATATATAAAAGAATATATATTTATATATA AATATATAAAAGAATATATATGTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(305): Show TTATATATACATATATATTCTTTTATATATTTATATATACATATATATTC TTTTATATATTTATATATAAATATATATTCTTTTATATATTTATATATAA ATATATATTCTTATATATTTATATATAAATATATATTTTTATATATTTAT ATATAAATATATATTCTTTTATATATTTATATATATATTTATATATAAAT ATATATTCTTTTATATATATATATAAATATATATTCTTTTATATATTTAT ATATAAATATATATTCTTTTATATATTTATATATAAATATATATTCTTTT ATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG03098.hp1 HG02280.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0039 a0001c0001t0001 a0001c0001t0039	a0001c0001t0001g0102 a0001c0001t0039g0084 a0001c0001t0001g0102 a0001c0001t0039g0084	2	348	0.0058	312	c.11 others(325): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATATATATAAAAGAATATATATTTATATATAAATATATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAATATA TATTTATATATAAATATATAAGAATATATATTTATATATAAATATATAAA AGAATATATATTTATATATAAATATATAAAAGAATATATATGTATATATA AATATATAAAAGAATATATATGTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(305): Show TTATATATACATATATATTCTTTTATATATTTATATATACATATATATTC TTTTATATATTTATATATAAATATATATTCTTTTATATATTTATATATAA ATATATATTCTTTTATATATTTATATATAAATATATATTTTTATATATTT ATATATAAATATATATTCTTTTATATATTTATATATATATTTATATATAA ATATATATTCTTTTATATATATATAAATATATATTCTTTTATATATTTAT ATATAAATATATATTCTTTTATATATTTATATATAAATATATATTCTTTT ATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	348	0.0029	312	c.11 others(325): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATATATAAAAGAATATATATTTATATATAAATATATATA TAAATATATAAAAGAATATATATTTATATATAAATATATAAAAATATATA TTTATATATAAATATATAAAAGAATATATATTTATATATAAATATATAAA AGAATATATATTTATATATAAATATATAAAAGAATATATATGTATATATA AATATATAAAAGAATATATATGTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(305): Show TTATATATACATATATATTCTTTTATATATTTATATATACATATATATTC TTTTATATATTTATATATAAATATATATTCTTTTATATATTTATATATAA ATATATATTTTTATATATTTATATATAAATATATATTTTTATATATTTAT ATATAAATATATATTCTTTTATATATTTATATATATATTTATATATAAAT ATATATTCTTTTATATATATATATAAATATATATTCTTTTATATATTTAT ATATAAATATATATTCTTTTATATATTTATATATAAATATATATTCTTTT ATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00735.hp1 others(46): Show HG00438.hp1 HG00438.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01167.hp2 HG01257.hp1 HG01943.hp2 HG01978.hp2 HG02055.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02300.hp1 HG02559.hp1 HG02615.hp2 HG02886.hp1 HG03017.hp2 HG03130.hp1 HG03453.hp1 HG03540.hp2 HG03579.hp2 HG04184.hp2 NA18747.hp1 NA18944.hp2 NA18949.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp2 NA18964.hp2 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18978.hp2 NA18981.hp2 NA18986.hp1 NA18987.hp2 NA19054.hp2 NA19067.hp1 NA19075.hp2 NA19077.hp2 NA19078.hp2 NA19082.hp2 NA19083.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(12): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0017 a0001c0001t0024 a0001c0001t0026 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0064 a0001c0003t0006	a0001c0001t0004g0052 a0001c0001t0004g0064 a0001c0001t0004g0065 others(46): Show a0001c0001t0004g0052 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0079 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0119 a0001c0001t0004g0123 a0001c0001t0006g0036 a0001c0001t0006g0049 a0001c0001t0006g0055 a0001c0001t0006g0056 a0001c0001t0006g0073 a0001c0001t0006g0090 a0001c0001t0006g0093 a0001c0001t0006g0117 a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0144 a0001c0001t0007g0034 a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0045 a0001c0001t0007g0054 a0001c0001t0007g0058 a0001c0001t0007g0103 a0001c0001t0007g0104 a0001c0001t0007g0112 a0001c0001t0007g0116 a0001c0001t0013g0033 a0001c0001t0013g0069 a0001c0001t0013g0072 a0001c0001t0013g0082 a0001c0001t0013g0139 a0001c0001t0017g0270 a0001c0001t0017g0271 a0001c0001t0024g0011 a0001c0001t0024g0012 a0001c0001t0026g0057 a0001c0001t0026g0122 a0001c0001t0033g0010 a0001c0001t0035g0014 a0001c0001t0037g0141 a0001c0001t0041g0156 a0001c0001t0042g0031 a0001c0001t0043g0059 a0001c0001t0064g0331 a0001c0003t0006g0048	49	348	0.1408	312	c.11 others(325): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATATATATAAAAGAATATATATTTATATATAAATATATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAATATA TATTTATATATAAATATATAAAAATATATATTTATATATAAATATATAAA AGAATATATATTTATATATAAATATATAAAAGAATATATATGTATATATA AATATATAAAAGAATATATATGTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(305): Show TTATATATACATATATATTCTTTTATATATTTATATATACATATATATTC TTTTATATATTTATATATACATATATATTCTTTTATATATTTATATATAA ATATATATTTTTATATATTTATATATAAATATATATTTTTATATATTTAT ATATAAATATATATTCTTTTATATATTTATATATATATTTATATATAAAT ATATATTCTTTTATATATATATATAAATATATATTCTTTTATATATTTAT ATATAAATATATATTCTTTTATATATTTATATATAAATATATATTCTTTT ATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18957.hp1 NA18939.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0050 a0001c0001t0006g0108 a0001c0001t0006g0050 a0001c0001t0006g0108	2	348	0.0058	312	c.11 others(325): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATATATATAAAAGAATATATATTTATATATAAATATATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAATATA TATTTATATATAAATATATAAAAATATATATTTATATATAAATATATAAA AGAATATATATGTATATATAAATATATAAAAGAATATATATGTATATATA AATATATAAAAGAATATATATGTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMEM94_chr17_75451635_75505452	75453311	G G	GATGAAGG others(305): Show GATGAAGGGAAATCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG01361.hp2 others(3): Show HG00140.hp1 HG00735.hp1 HG01361.hp2 HG02922.hp1 HG03710.hp2 HG04204.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0001c0016 a0003c0014 a0001c0004 a0001c0016 a0003c0014	a0001c0004t0005 a0001c0004t0012 a0001c0016t0001 others(1): Show a0001c0004t0005 a0001c0004t0012 a0001c0016t0001 a0003c0014t0001	a0001c0004t0005g0005 a0001c0004t0005g0176 a0001c0004t0005g0178 others(3): Show a0001c0004t0005g0005 a0001c0004t0005g0176 a0001c0004t0005g0178 a0001c0004t0012g0005 a0001c0016t0001g0179 a0003c0014t0001g0177	6	354	0.0170	312	c.-35 others(323): Show c.-3547_-3546insATGAAGGGAAATCTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCC	TMEM94	ENSG00000177728.17	transcript	ENST00000314256.12	protein_coding		3323		chr17	TogoVar
TNIK_chr3_171053414_171465405	171199211	A A	AAAAAAAG others(305): Show AAAAAAAGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0087 a0001c0009t0006g0087	1	104	0.0096	312	c.307 others(329): Show c.307-4577_307-4576insCTTTTCTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTTCTTTTTT	TNIK	ENSG00000154310.17	transcript	ENST00000436636.7	protein_coding	4/32			chr3	TogoVar
TNIK_chr3_171053414_171465405	171199211	A A	AAAAAAAG others(305): Show AAAAAAAGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0037 a0001c0009t0001g0037	1	104	0.0096	312	c.307 others(329): Show c.307-4577_307-4576insCTTTTCTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTTCTTTTTT	TNIK	ENSG00000154310.17	transcript	ENST00000436636.7	protein_coding	4/32			chr3	TogoVar
TOMM7_chr7_22807974_22827849	22813864	T T	TGTAGCCC others(305): Show TGTAGCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	420	0.0024	312	c.153 others(327): Show c.153-680_153-679insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTGGGCTAC	TOMM7	ENSG00000196683.12	transcript	ENST00000358435.9	protein_coding	2/2			chr7	TogoVar

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