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
SPAAR_chr9_35904490_35916686	35914124	G G	GAGTGTGT others(199): Show GAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGTGTGTATTTTTTTATGCTGTAGTGTGTGTAAGTTGTATGTGTGTA GTGTGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTG TGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTA TGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	413	0.0024	206	c.34 others(217): Show c.3433_*3434insAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGTGTGTATTTTTTTATGCTGTAGTGTGTGTA AGTTGTATGTGTGTAGTGTGTGTGTGTGTTTTTGTATGCTGTGGTGTGTG TGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTG TGTGTGTAAGTTGTATGTGTGT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2439		chr9	TogoVar
SPATA13_chr13_24155720_24312069	24189921	T T	TTATATAA others(199): Show TTATATAATTATATATAATATATTACGTAATATATTATATATAATTATAT AATATATTACGTAATATATTATATATAATTATATAATATATTACGTAATA TATTATATATAATTATATAATATATTACGTAATATATTATATATAATTAT ATAATATATTACGTAATATATTATATATAATTATATAATATATTACGTAA TATATTA	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA19002.hp2 HG02148.hp1 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0009 a0001c0009t0007 a0001c0002t0009 a0001c0009t0007	a0001c0002t0009g0319 a0001c0009t0007g0115 a0001c0002t0009g0319 a0001c0009t0007g0115	2	348	0.0057	206	c.-11 others(227): Show c.-112+29003_-112+29004insTAATATATTACGTAATATATTATA TATAATTATATAATATATTACGTAATATATTATATATAATTATATAATAT ATTACGTAATATATTATATATAATTATATAATATATTACGTAATATATTA TATATAATTATATAATATATTACGTAATATATTATATATAATTATATAAT ATATTACGTAATATATTATATATAATTATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24189953	T T	TTATATAT others(199): Show TTATATATAATTATATAATATATTACGTAATATATTATATATAATTATAT AATATATTACGTAATATATTATATATAATTATATAATATATTACGTAATA TATTATATATAATTATATAATATATTACGTAATATATTATATATAATTAT ATAATATATTACGTAATATATTATATATAATTATATAATATATTACATAA TATATTA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00639.hp2 others(51): Show HG00544.hp1 HG00558.hp2 HG00639.hp2 HG00733.hp2 HG00741.hp2 HG01071.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp2 HG01261.hp1 HG01346.hp2 HG01928.hp1 HG01943.hp2 HG01975.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02074.hp2 HG02135.hp2 HG02523.hp1 HG03239.hp2 HG03710.hp2 HG03942.hp2 HG04184.hp2 NA18522.hp2 NA18944.hp1 NA18948.hp1 NA18948.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18964.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18984.hp1 NA18991.hp2 NA19000.hp2 NA19002.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19055.hp1 NA19058.hp1 NA19058.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19087.hp2 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0018 a0001c0052 a0002c0007 a0003c0014 a0011c0040 a0012c0044	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(38): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0017 a0001c0001t0022 a0001c0001t0034 a0001c0001t0048 a0001c0001t0056 a0001c0001t0110 a0001c0001t0112 a0001c0002t0001 a0001c0002t0008 a0001c0002t0009 a0001c0002t0016 a0001c0002t0018 a0001c0002t0040 a0001c0002t0041 a0001c0002t0050 a0001c0002t0052 a0001c0003t0004 a0001c0003t0011 a0001c0003t0035 a0001c0003t0097 a0001c0004t0001 a0001c0004t0008 a0001c0004t0013 a0001c0004t0039 a0001c0004t0079 a0001c0005t0002 a0001c0005t0003 a0001c0006t0013 a0001c0009t0010 a0001c0018t0006 a0001c0052t0005 a0002c0007t0118 a0003c0014t0036 a0011c0040t0009 a0012c0044t0019	a0001c0001t0002g0164 a0001c0001t0002g0190 a0001c0001t0003g0274 others(51): Show a0001c0001t0002g0164 a0001c0001t0002g0190 a0001c0001t0003g0274 a0001c0001t0003g0291 a0001c0001t0004g0128 a0001c0001t0005g0001 a0001c0001t0005g0067 a0001c0001t0005g0136 a0001c0001t0006g0006 a0001c0001t0006g0255 a0001c0001t0006g0298 a0001c0001t0014g0250 a0001c0001t0017g0333 a0001c0001t0022g0256 a0001c0001t0022g0330 a0001c0001t0022g0331 a0001c0001t0034g0048 a0001c0001t0048g0096 a0001c0001t0056g0121 a0001c0001t0110g0324 a0001c0001t0112g0223 a0001c0002t0001g0066 a0001c0002t0001g0073 a0001c0002t0001g0082 a0001c0002t0001g0174 a0001c0002t0001g0181 a0001c0002t0008g0152 a0001c0002t0009g0287 a0001c0002t0016g0148 a0001c0002t0016g0182 a0001c0002t0018g0265 a0001c0002t0040g0077 a0001c0002t0041g0046 a0001c0002t0050g0335 a0001c0002t0052g0280 a0001c0003t0004g0253 a0001c0003t0011g0302 a0001c0003t0035g0068 a0001c0003t0097g0289 a0001c0004t0001g0045 a0001c0004t0008g0091 a0001c0004t0013g0305 a0001c0004t0039g0106 a0001c0004t0079g0179 a0001c0005t0002g0089 a0001c0005t0003g0316 a0001c0006t0013g0285 a0001c0009t0010g0288 a0001c0018t0006g0243 a0001c0052t0005g0093 a0002c0007t0118g0283 a0003c0014t0036g0201 a0011c0040t0009g0293 a0012c0044t0019g0108	54	88	0.6136	206	c.-11 others(227): Show c.-112+29027_-112+29028insTAATTATATAATATATTACGTAAT ATATTATATATAATTATATAATATATTACGTAATATATTATATATAATTA TATAATATATTACGTAATATATTATATATAATTATATAATATATTACGTA ATATATTATATATAATTATATAATATATTACGTAATATATTATATATAAT TATATAATATATTACATAATATATTATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24189953	T T	TTATATAT others(199): Show TTATATATAATTATATAATATATTACGTAATATATTATATATAATTATAT AATATATTACGTAATATATTATATATAATTATATAATATATTACGTAATA TATTATATATAATTATATAATATATTACGTAATATATTATATATAATTAT ATAATATATTACGTAATATATTATATATAATTATATAATATATTACGTAA TATATTA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01358.hp1 others(9): Show HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01884.hp2 HG02647.hp1 HG03130.hp1 HG03139.hp1 HG03579.hp1 NA18947.hp2 NA18982.hp1 NA18990.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0002c0007	a0001c0001t0062 a0001c0002t0010 a0001c0002t0052 others(7): Show a0001c0001t0062 a0001c0002t0010 a0001c0002t0052 a0001c0002t0115 a0001c0002t0129 a0001c0005t0003 a0001c0005t0036 a0001c0005t0106 a0001c0009t0001 a0002c0007t0049	a0001c0001t0062g0170 a0001c0002t0010g0275 a0001c0002t0052g0247 others(9): Show a0001c0001t0062g0170 a0001c0002t0010g0275 a0001c0002t0052g0247 a0001c0002t0115g0246 a0001c0002t0129g0032 a0001c0005t0003g0325 a0001c0005t0036g0052 a0001c0005t0106g0029 a0001c0009t0001g0137 a0001c0009t0001g0138 a0001c0009t0001g0139 a0002c0007t0049g0351	12	46	0.2609	206	c.-11 others(227): Show c.-112+29027_-112+29028insTAATTATATAATATATTACGTAAT ATATTATATATAATTATATAATATATTACGTAATATATTATATATAATTA TATAATATATTACGTAATATATTATATATAATTATATAATATATTACGTA ATATATTATATATAATTATATAATATATTACGTAATATATTATATATAAT TATATAATATATTACGTAATATATTATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24189953	T T	TTATATAT others(199): Show TTATATATAATTATATAATATATTACGTAATATATTATATATAATTATAT AATATATTACGTAATATATTATATATAATTATATATAATATATTACGTAA TATATTATATAATTATATAATATATTACGTAATATATTATATATAATTAT ATAATATATTACGTAATATATTATATATAATTATATAATATATTACATAA TATATTA	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18952.hp2 HG00597.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0002t0009 a0001c0001t0017 a0001c0002t0009	a0001c0001t0017g0334 a0001c0002t0009g0336 a0001c0001t0017g0334 a0001c0002t0009g0336	2	36	0.0556	206	c.-11 others(227): Show c.-112+29027_-112+29028insTAATTATATAATATATTACGTAAT ATATTATATATAATTATATAATATATTACGTAATATATTATATATAATTA TATATAATATATTACGTAATATATTATATAATTATATAATATATTACGTA ATATATTATATATAATTATATAATATATTACGTAATATATTATATATAAT TATATAATATATTACATAATATATTATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24189953	T T	TTATATAT others(199): Show TTATATATAATTATATAATATATTACGTAATCTATTATATATAATTATAT AATATATTACGTAATCTATTATATATAATTATATAATATATTACGTAATA TATTATATATAATTATATAATATATTACGTAATATATTATATATAATTAT ATAATATATTACGTAATATATTATATATAATTATATAATATATTACATAA TATATTA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0131 a0015c0022t0131	a0015c0022t0131g0003 a0015c0022t0131g0003	1	35	0.0286	206	c.-11 others(227): Show c.-112+29027_-112+29028insTAATTATATAATATATTACGTAAT CTATTATATATAATTATATAATATATTACGTAATCTATTATATATAATTA TATAATATATTACGTAATATATTATATATAATTATATAATATATTACGTA ATATATTATATATAATTATATAATATATTACGTAATATATTATATATAAT TATATAATATATTACATAATATATTATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(199): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCC TCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACC CCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	18	0.0556	206	c.54 others(217): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAA GGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(199): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCC TCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACC CCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 NA18964.hp2 HG00738.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	2	19	0.1053	206	c.54 others(217): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(199): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCC TCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACC CCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	18	0.0556	206	c.54 others(217): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(199): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCTC CCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCTTCCCC TCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACC CCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	18	0.0556	206	c.54 others(217): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGAAGGAGGGGGAGGGTGGTGGGAG GAGGAGGGGAGGGGAGGGGAGGGGAGGGAGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(199): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGGGGGA GGGGGAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	6	0.1667	206	c.138 others(225): Show c.1384-5708_1384-5707insCTCCCCCTCCCCCTCCCCCTCCCCTC CCCTCCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCT TCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(199): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGGAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0160 a0001c0006t0001g0160	1	6	0.1667	206	c.138 others(225): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SRMS_chr20_63533489_63552749	63535752	A A	ACCTGGCC others(199): Show ACCTGGCCTCCCGCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCT GGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCCCCCCCACCTGGCCT CCCACCCCGTCCTCACCTGGCCTCCCGCACCCCCCTCACCTGGCCTCCCG CCCCCCCCTCATCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCCC CTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0070 a0005c0007t0002g0070	1	343	0.0029	206	c.50 others(217): Show c.5065_*5066insAGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGG CGGGAGGCCAGATGAGGGGGGGGCGGGAGGCCAGGTGAGGGGGGTGCGGG AGGCCAGGTGAGGACGGGGTGGGAGGCCAGGTGGGGGGGGGCGGGAGGCC AGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGAGGGGGCGGGAGGCCAGGT GAGGGGGGGGCGGGAGGCCAGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2736		chr20	TogoVar
SSBP2_chr5_81407804_81756097	81432773	C C	CCGCCCGG others(199): Show CCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGC CACCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCTGGCCACCCCTACTGGGAAGTGAGGAG CCCCTCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03209.hp2 HG03225.hp2 HG02615.hp2 HG03209.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0008 a0001c0002t0013g0044 a0001c0002t0013g0194 a0001c0002t0013g0008 a0001c0002t0013g0044 a0001c0002t0013g0194	3	203	0.0148	206	c.982 others(223): Show c.982-4091_982-4090insAGAGGGGCTCCTCACTTCCCAGTAGGGG TGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCAGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCG	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	15/16			chr5	TogoVar
SSBP2_chr5_81407804_81756097	81432773	C C	CCGCCCGG others(199): Show CCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGC CACCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC TGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCTGGCCACCCCTACTGGGAAGTGAGGAG CCCCTCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0052 a0001c0002t0052	a0001c0002t0052g0119 a0001c0002t0052g0119	1	201	0.0050	206	c.982 others(223): Show c.982-4091_982-4090insAGAGGGGCTCCTCACTTCCCAGTAGGGG TGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACTCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCAGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCG	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	15/16			chr5	TogoVar
ST3GAL3_chr1_43702536_43936159	43906335	C C	CTCCTCCT others(199): Show CTCCTCCTGTTCCTCTTCCCGCCACTCTTCCTCCCCATCCTCCTGTTTCC TTTCCCGCCACTTTTCTTCCACCTCCTCCTGTTCCTCTTCCCACCACTCT TCCCCCTCCTCCTCCTGCTCCTCTCCCACCACTCTCCCCTCTCCTCCTCC TGCTCCCCTTCCCGCCACTCTTCCCCCTCCTCCTCCTGCTCCTCTTCCTG CCACTCT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	272	0.0037	206	c.744 others(223): Show c.744+6642_744+6847dupCCATCCTCCTGTTTCCTTTCCCGCCACT TTTCTTCCACCTCCTCCTGTTCCTCTTCCCACCACTCTTCCCCCTCCTCC TCCTGCTCCTCTCCCACCACTCTCCCCTCTCCTCCTCCTGCTCCCCTTCC CGCCACTCTTCCCCCTCCTCCTCCTGCTCCTCTTCCTGCCACTCTTCCTC CTGTTCCTCTTCCCGCCACTCTTCCTCC	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
STRN_chr2_36832698_36971536	36966898	A A	AACACACA others(199): Show AACACACACACACACACACACACACACACACACACACACACACACACACA CACACACACACACACACACACACACACACACACACACACACACACACACA CACACACACACACACACACACACACACACACACACACACACACACACACA CACACACACACACACACACACACACACACACACACACACACACACACACA CACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0250 a0001c0001t0003g0250	1	100	0.0100	206	c.-43 others(215): Show c.-436_-435insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGT	STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding		363		chr2	TogoVar
STXBP3_chr1_108741674_108814523	108771892	C C	CTATATAT others(199): Show CTATATATCATATATAAATACATATGATATCTATATATCATATATAAATA CATATGATATCTATATATCATATATAAATACATATGATATCTATATATCA TATATAAATACATATGATATCTATATATCATATATAAATACATATGATAT CTATATATCATATATAAATACATATGATATCTATATATCATATATAAATA CATATGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03540.hp1 HG01099.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	325	0.0062	206	c.439 others(221): Show c.439-770_439-769insATATCATATATAAATACATATGATATCTAT ATATCATATATAAATACATATGATATCTATATATCATATATAAATACATA TGATATCTATATATCATATATAAATACATATGATATCTATATATCATATA TAAATACATATGATATCTATATATCATATATAAATACATATGATATCTAT ATATCATATATAAATACATATGATAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
SYNGR2_chr17_78163581_78177720	78167707	C C	CCGCGCCC others(199): Show CCGCGCCCGGCCTGTTTTTGGTTTTTGAGACAAAGTCTCACTCTGTCGCG CAGGCTGGAGTACAGTGGTGCGATCTCTGCTCATTGCAACCTCCGCCTCC CAGGTCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACA GACATGCGCCACCATGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACCT CAGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG03225.hp2 HG03453.hp1 others(1): Show HG02145.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0019 a0001c0001t0003g0019 a0001c0001t0003g0028 a0001c0001t0001g0019 a0001c0001t0003g0019 a0001c0001t0003g0028	4	433	0.0092	206	c.-91 others(215): Show c.-910_-909insCGCGCCCGGCCTGTTTTTGGTTTTTGAGACAAAGTC TCACTCTGTCGCGCAGGCTGGAGTACAGTGGTGCGATCTCTGCTCATTGC AACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGATTACAGACATGCGCCACCATGCCCTGCTAATTTTTTGTATTT TTAGTAGAGACCTCAGGAGA	SYNGR2	ENSG00000108639.8	transcript	ENST00000225777.8	protein_coding		873		chr17	TogoVar
SYNGR2_chr17_78163581_78177720	78167707	C C	CCGCGCCC others(199): Show CCGCGCCCGGCCTGTTTTTGGTTTTTGAGACAAAGTCTCACTCTGTCGCG CAGGGTGGAGTACAGTGGTGCGATCTGTGCTCATTGCAACCTCCGCCTCC CAGGTCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACA GACATGCGCCACCATGCCCTGCTAATTTTTTGTATTTTTAGTAGAGACCT CAGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01255.hp2 HG02055.hp2 others(12): Show HG01099.hp1 HG01255.hp2 HG02055.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp2 HG02896.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp2 NA18906.hp1 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0003c0005t0002 a0001c0001t0001 a0003c0005t0001 a0003c0005t0002	a0001c0001t0001g0041 a0003c0005t0001g0011 a0003c0005t0001g0016 others(4): Show a0001c0001t0001g0041 a0003c0005t0001g0011 a0003c0005t0001g0016 a0003c0005t0001g0043 a0003c0005t0001g0045 a0003c0005t0002g0011 a0003c0005t0002g0044	15	444	0.0338	206	c.-91 others(215): Show c.-910_-909insCGCGCCCGGCCTGTTTTTGGTTTTTGAGACAAAGTC TCACTCTGTCGCGCAGGGTGGAGTACAGTGGTGCGATCTGTGCTCATTGC AACCTCCGCCTCCCAGGTCCAAGTGATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGATTACAGACATGCGCCACCATGCCCTGCTAATTTTTTGTATTT TTAGTAGAGACCTCAGGAGA	SYNGR2	ENSG00000108639.8	transcript	ENST00000225777.8	protein_coding		873		chr17	TogoVar
SYNPR_chr3_63273308_63621924	63313900	C C	CATATATA others(199): Show CATATATATATCCATATATATATATCCATATATATATCCATATATATATA TCCATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATATCCATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATATCCATATATATATA TCCATAT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	193	0.0052	206	c.84+ others(223): Show c.84+35182_84+35183insCCATATATATATCCATATATATATATCC ATATATATATCCATATATATATATATCCATATATATATATCCATATATAT ATATATCCATATATATATATCCATATATATATATATCCATATATATATAT ATCCATATATATATATATCCATATATATATATATCCATATATATATATCC ATATATATATATATCCATATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63313900	C C	CATATATA others(199): Show CATATATATATCCATATATATATATCCATATATATATCCATATATATATA TCCATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATATATCCATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATATATCCATATATATATATATCCATATATATATA TATCCAT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	193	0.0052	206	c.84+ others(223): Show c.84+35182_84+35183insCCATATATATATCCATATATATATATCC ATATATATATCCATATATATATATCCATATATATATATATCCATATATAT ATATATCCATATATATATATCCATATATATATATATCCATATATATATAT ATCCATATATATATATATCCATATATATATATATCCATATATATATATAT CCATATATATATATCCATATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYTL3_chr6_158645054_158769871	158704861	G G	GACAGGGT others(199): Show GACAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCA GGGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCC AGGGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACC CGGGGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGAC CTGGGGA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	266	0.0038	206	c.395 others(223): Show c.395-2369_395-2368insACAGGGTGACAGTGAGGGCTGTAAGGCC ACATAGGGCAGGAGGGACCCAGGGCAGGGTGACAGTGAGGGCTGTAAGGC CACATAGGGCAGGAGGGACCCAGGGCAGGGTGACAGTGAGGGCTGTAAGG CCACATAGGGCAGGAGGGACCCGGGGCAGGGTGACAGTGAGGGCTGTAAG GCCACATAGGGCAGGAGGGACCTGGGGA	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17			chr6	TogoVar
TANGO6_chr16_68838531_69090182	69072034	T T	TGTGTGTG others(199): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGAGAGAGG GAGACCGTGTGTGTGTGTGTGTGTGTGTATGTGTGAAGAGAGAGGGAGAC CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGAGAGA GGGAGACCGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGAAGAGAGAG GGAGACC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	208	0.0048	206	c.310 others(227): Show c.3109-11417_3109-11416insGTGTGTAGAGAGAGGGAGACCGTG TGTGTGTGTGTGTGTGTGTATGTGTGAAGAGAGAGGGAGACCGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGAGAGAGGGAGACCG TGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGAAGAGAGAGGGAGACCGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	TANGO6	ENSG00000103047.8	transcript	ENST00000261778.2	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TBC1D22A_chr22_46757650_47180693	46859991	T T	TTTTGATA others(199): Show TTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCC TTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATC CTTTTCCATAGAGGTCCGCGCAGTGCTGTGCTCCTTCCCGGGACCAGAAT CCTTTTCGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCTGGGACCAGAA TCCTTTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02809.hp2 HG01496.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0108 a0001c0001t0017g0109 a0001c0001t0001g0108 a0001c0001t0017g0109	2	112	0.0179	206	c.638 others(225): Show c.638-18661_638-18660insTTGATAGAGGTCCGCGCAGTGCCGTG CCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCTGT GCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCTG TGCTCCTTCCCGGGACCAGAATCCTTTTCGATAGAGGTCCGCGCAGTGCC GTGCCCCTTCCTGGGACCAGAATCCTTTGT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46860456	C C	CATAGAGG others(199): Show CATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTT CCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTT TTTGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCT TTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGTCCAGAATCC TTTTTTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA20129.hp2 HG00741.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0003 a0001c0001t0002 a0002c0003t0003	a0001c0001t0002g0018 a0002c0003t0003g0028 a0001c0001t0002g0018 a0002c0003t0003g0028	2	60	0.0333	206	c.638 others(225): Show c.638-18115_638-18114insCGGGACCAGAATCCTTTTTTGATAGA GGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAG AGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGTCCAGAATCCTTTTTTGAT AGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTCCA TAGAGGTCCGCGCAGTGCCGTGCCCCTTCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46860456	C C	CATAGAGG others(199): Show CATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTT CCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTT TTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCT TTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGTCCAGAATCC TTTTTTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02257.hp1 HG00642.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0008 a0001c0001t0007g0044 a0001c0001t0001g0008 a0001c0001t0007g0044	2	60	0.0333	206	c.638 others(225): Show c.638-18127_638-18126insTGTGCCCCTTCCCGGGACCAGAATCC TTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAAT CCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGTCCAGAA TCCTTTTTTGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAG AATCCTTTTCCATAGAGGTCCGCGCAGTGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46860456	C C	CATAGAGG others(199): Show CATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTT CCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTT TTTGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCT TTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGTCCAGAATCC TTTTTTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01069.hp1 others(20): Show HG00642.hp1 HG00741.hp2 HG01069.hp1 HG01261.hp1 HG01496.hp1 HG01515.hp2 HG02074.hp2 HG02257.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02886.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03486.hp1 HG04199.hp1 HG06807.hp1 NA18980.hp2 NA19240.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0004c0007t0001	a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0057 others(20): Show a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0002g0005 a0001c0001t0002g0016 a0001c0001t0002g0037 a0001c0001t0003g0063 a0001c0001t0003g0102 a0001c0001t0003g0111 a0001c0001t0004g0020 a0001c0001t0007g0036 a0001c0001t0009g0004 a0001c0001t0010g0023 a0001c0001t0010g0106 a0001c0001t0014g0006 a0004c0007t0001g0064	23	81	0.2840	206	c.638 others(225): Show c.638-18127_638-18126insTGTGCCCCTTCCCGGGACCAGAATCC TTTTTTGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAAT CCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGTCCAGAA TCCTTTTTTGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAG AATCCTTTTCCATAGAGGTCCGCGCAGTGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D2B_chr15_77989985_78082711	77992771	C C	CCCCCCCC others(199): Show CCCCCCCCCCACTCCCCCCCACTCCCCCCCACTCCCCCCCCACTCCCCCC ACTCCCCCCCACTCCCCCCCACTCCCCCCCCACTCCACTCCCCCCCACTC CCCCCCACTCCCCCCCCCACTCCACTCCCCCCCCACTCCACTCCCCCCCA CTCCCCCCCCACTCCACTCCCCCCACTCCCCCCCCACTCCCCCCCACTCC CCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0186 a0001c0001t0004g0186	1	278	0.0036	206	c.53 others(217): Show c.5388_*5389insAGTGGGGGGAGTGGGGGGGAGTGGGGGGGGAGTG GGGGGAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGAGT GGAGTGGGGGGGGGAGTGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGG AGTGGGGGGGAGTGGGGGGGAGTGGGGGGAGTGGGGGGGGAGTGGGGGGG AGTGGGGGGGAGTGGGGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2213		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992793	C C	CCCCACTC others(199): Show CCCCACTCCCCCCCACTCCCCCCCACTCCCCCCACTCCCCCCCACTCCCC CCCACTCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCCACTCCACTCC CCCCCACTCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCCACTCCACT CCCCCCCACTCCCCCCCCACTCCCCCCCACTCCCCCCACTCCCCCCCACT CCCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0160 a0001c0001t0004g0160	1	246	0.0041	206	c.53 others(217): Show c.5366_*5367insTGGGGGGAGTGGGGGGGAGTGGGGGGAGTGGGGG GGAGTGGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGAGTGGGGGGGA GTGGAGTGGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGAGTGGGGGG GAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGGGGGGAGTGGGGGGAGTG GGGGGGAGTGGGGGGGAGTGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2191		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992796	C C	CACTCCCC others(199): Show CACTCCCCCCCACTCCCCCCACTCCCCCCCACTCCCCCCCACTCCCCCCC CACTCCACTCCCCCCCACTCCCCCCCACTCCCCCCCCACTCCACTCCCCC CCACTCCCCCCCCACTCCACTCCCCCCCCACTCCCCCCCCACTCCACTCC CCCCCACTCCCCCCCACTCCCCCCACTCCCCCCCACTCCCCCCACTCCCC CCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0174 a0001c0001t0012g0174	1	224	0.0045	206	c.53 others(217): Show c.5363_*5364insAGTGGGGGGGGAGTGGGGGGAGTGGGGGGGAGTG GGGGGAGTGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGAGTGGGGGG GGAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGAGTGGG GGGGAGTGGGGGGGAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGGGGGG AGTGGGGGGAGTGGGGGGGAGT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2188		chr15	TogoVar
TCF3_chr19_1604292_1657615	1627913	G G	GGGGGTGA others(199): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGA ACTCACA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0278 a0001c0003t0001g0278	1	313	0.0032	206	c.299 others(221): Show c.299-488_299-487insTGTGAGTTCTGCTGTCCCCTTCCCGCCTCA CCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTG CTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCT CTGCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628113	G G	GCTCACAG others(199): Show GCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAG GCGGGAAGGGGACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAG CAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGT GAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGGAAGGGGAC AGCAGAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01361.hp1 HG04204.hp2 HG01167.hp1 HG01361.hp1 HG04204.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0043 a0001c0005t0004 a0001c0005t0043	a0001c0005t0004g0023 a0001c0005t0004g0028 a0001c0005t0043g0040 a0001c0005t0004g0023 a0001c0005t0004g0028 a0001c0005t0043g0040	3	295	0.0102	206	c.299 others(221): Show c.299-688_299-687insTTCTGCTGTCCCCTTCCCGCCTCATCCCCG TGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCC CTGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCGTGAGCTCTGCTGT CCCCTTCCCGCCTCACCCCCTGTGAG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628737	G G	GGGGGTGA others(199): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCATGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCA GGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCAC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0002 a0010c0016t0002	a0010c0016t0002g0257 a0010c0016t0002g0257	1	313	0.0032	206	c.299 others(223): Show c.299-1312_299-1311insGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCCTGTGAGCTCTGCTGTCCCCTTCCTGCCCCACCCCCGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCCATGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAG CTCTGCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCN2_chr22_30602174_30632271	30623921	T T	TATACACA others(199): Show TATACACACATATACACACATACATATATACACATATACACACACACATA TATACACACATGTATACATATATATACACACATGTATACATATGTATACA CACATATATGTATACATATGTATACACACACATATATATGTATACATATA TACACACACACATATGTATACATATATACACACATGTATACATATATACA CACATAC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0314 a0001c0001t0003g0314	1	359	0.0028	206	c.122 others(223): Show c.1222+841_1222+842insCACACATATACACACATACATATATACA CATATACACACACACATATATACACACATGTATACATATATATACACACA TGTATACATATGTATACACACATATATGTATACATATGTATACACACACA TATATATGTATACATATATACACACACACATATGTATACATATATACACA CATGTATACATATATACACACATACATA	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCN2_chr22_30602174_30632271	30623921	T T	TATACACA others(199): Show TATACACACATATACACACATACATATATACACATATACACACACACATA TATACACACATGTATACATATATATACACACATGTATACATATGTATACA CACATATATGTATACATATGTATACACACACATATATATGTATACATATA TACACACACATATATGTATACATATATACACACATGTATACATATATACA CACATAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01168.hp1 HG02071.hp2 others(17): Show HG00642.hp1 HG01168.hp1 HG02071.hp2 HG02257.hp2 HG02280.hp2 HG02559.hp1 HG02615.hp2 HG02886.hp2 HG02965.hp1 HG03225.hp2 HG03486.hp1 HG03540.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA18957.hp1 NA18982.hp2 NA19000.hp2 NA19003.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0018 a0001c0001t0003 a0001c0001t0008 a0001c0001t0018	a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 others(16): Show a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0101 a0001c0001t0003g0309 a0001c0001t0003g0311 a0001c0001t0003g0313 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0323 a0001c0001t0008g0303 a0001c0001t0008g0312 a0001c0001t0008g0326 a0001c0001t0008g0327 a0001c0001t0008g0328 a0001c0001t0018g0065	20	378	0.0529	206	c.122 others(223): Show c.1222+841_1222+842insCACACATATACACACATACATATATACA CATATACACACACACATATATACACACATGTATACATATATATACACACA TGTATACATATGTATACACACATATATGTATACATATGTATACACACACA TATATATGTATACATATATACACACACATATATGTATACATATATACACA CATGTATACATATATACACACATACATA	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCN2_chr22_30602174_30632271	30623921	T T	TATACACA others(199): Show TATACACACATATACACACATACATATATACACATATACACACACACATA TATACACACATGTATACATATATATACACACGTATACATATGTATACACA CATATATATGTATACATATGTATACACACACATATATATGTATACATATA TACACACACATATATGTATACATATATACACACATGTATACATATATACA CACATAC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18971.hp2 NA18977.hp2 others(2): Show NA18947.hp1 NA18971.hp2 NA18977.hp2 NA18990.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0087 a0001c0001t0003g0012 a0001c0001t0003g0087	5	363	0.0138	206	c.122 others(223): Show c.1222+841_1222+842insCACACATATACACACATACATATATACA CATATACACACACACATATATACACACATGTATACATATATATACACACG TATACATATGTATACACACATATATATGTATACATATGTATACACACACA TATATATGTATACATATATACACACACATATATGTATACATATATACACA CATGTATACATATATACACACATACATA	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCN2_chr22_30602174_30632271	30623921	T T	TATACACA others(199): Show TATACACACATATACACACATACATATATACACATATACACACACACATA TATACACACATGTATACATATATATACACATGTATACATATGTATACACA CATATATGTATACATATGTATACACACACATATATATGTATACATATATA CACACACATATATATGTATACATATATACACACATGTATACATATATACA CACATAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	359	0.0028	206	c.122 others(223): Show c.1222+841_1222+842insCACACATATACACACATACATATATACA CATATACACACACACATATATACACACATGTATACATATATATACACATG TATACATATGTATACACACATATATGTATACATATGTATACACACACATA TATATGTATACATATATACACACACATATATATGTATACATATATACACA CATGTATACATATATACACACATACATA	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TECTA_chr11_121096243_121196490	121185348	C C	CAATGCTT others(199): Show CAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAAT GAGTAGGGAAAGCAGATGTTCAATGCTTAATGAGTAGGGAAAGCAGATGT TCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAA TGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAACGAGTAGGGAAAGCA GATGTTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0006 a0001c0014t0006	a0001c0014t0006g0314 a0001c0014t0006g0314	1	341	0.0029	206	c.600 others(225): Show c.6000-2450_6000-2449insGAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAGTAGGGAAAGCAGATGTTCAATGCTTAA TGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAA AGCAGATGTTCAATGCTTAATGAACGAGTAGGGAAAGCAGATGTTGAATG CTTAATGAATGAGTAGGGAAAGCAGATGTT	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TECTA_chr11_121096243_121196490	121185359	G G	GAATGAGT others(199): Show GAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGC TTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTG AATGCTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02622.hp1 HG02698.hp1 others(1): Show HG01099.hp2 HG02622.hp1 HG02698.hp1 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0001c0040 a0003c0007 a0001c0005 a0001c0040 a0003c0007	a0001c0005t0001 a0001c0040t0001 a0003c0007t0001 a0001c0005t0001 a0001c0040t0001 a0003c0007t0001	a0001c0005t0001g0051 a0001c0005t0001g0309 a0001c0040t0001g0284 others(1): Show a0001c0005t0001g0051 a0001c0005t0001g0309 a0001c0040t0001g0284 a0003c0007t0001g0182	4	345	0.0116	206	c.600 others(225): Show c.6000-2448_6000-2447insGTGCTTAATGAATGAGTAGGGAAAGC AGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTT AATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGG AAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAA TGCTTAATGAGTAGGGAAAGCAGATGTTCA	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TECTA_chr11_121096243_121196490	121185537	C C	CGAGTAGG others(199): Show CGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCA GATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTA ATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGA AAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAAT GCTTAAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp2 HG03239.hp1 HG02735.hp1 HG02735.hp2 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0034 a0001c0003 a0001c0006 a0001c0034	a0001c0003t0002 a0001c0006t0002 a0001c0034t0002 a0001c0003t0002 a0001c0006t0002 a0001c0034t0002	a0001c0003t0002g0290 a0001c0006t0002g0060 a0001c0034t0002g0162 a0001c0003t0002g0290 a0001c0006t0002g0060 a0001c0034t0002g0162	3	261	0.0115	206	c.600 others(225): Show c.6000-2240_6000-2239insCAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAATGCTTAATGAGTAGGGAAAGCAGATGTTGAATG CTTAATGAATGAGTAGGGAAAGCAGATGTT	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TERT_chr5_1248167_1300068	1272751	A A	ACACATCA others(199): Show ACACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCCACAA CCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCA CAGTCAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	374	0.0027	206	c.228 others(223): Show c.2287-472_2287-471insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273262	A A	ACACATCA others(199): Show ACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACAACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCA CAGTCAC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	365	0.0027	206	c.228 others(223): Show c.2287-983_2287-982insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273402	A A	ACATCAGA others(199): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC AACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCT ACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCA CAGTCAC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0253 a0001c0003t0001g0253	1	371	0.0027	206	c.228 others(225): Show c.2287-1123_2287-1122insGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THADA_chr2_43225851_43601038	43298032	C C	CCCCGTCC others(199): Show CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGCG GGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03471.hp1 HG02055.hp1 HG03471.hp1	a0009 a0011 a0009 a0011	a0009c0031 a0011c0017 a0009c0031 a0011c0017	a0009c0031t0001 a0011c0017t0001 a0009c0031t0001 a0011c0017t0001	a0009c0031t0001g0161 a0011c0017t0001g0061 a0009c0031t0001g0161 a0011c0017t0001g0061	2	67	0.0299	206	c.443 others(225): Show c.4439-4820_4439-4819insCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCGCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGG	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43298032	C C	CCCCGTCC others(199): Show CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0024 a0024	a0024c0038 a0024c0038	a0024c0038t0001 a0024c0038t0001	a0024c0038t0001g0064 a0024c0038t0001g0064	1	66	0.0152	206	c.443 others(225): Show c.4439-4820_4439-4819insCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGG	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
THBS3_chr1_155190588_155212897	155190862	T T	TCTCCGGG others(199): Show TCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGG GCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGG TGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCT GGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGA CACCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	272	0.0037	206	c.49 others(217): Show c.4978_*4979insCACGGTGTCACCTCGGCCCCGGACACCAGGCCGG CCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGGA CACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACC TCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCAGCCCA CGGTGTCACCTCGGCCCCGGAG	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4725		chr1	TogoVar
THEG_chr19_356747_381026	377502	C C	CCCCACCC others(199): Show CCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCTCT GTGCCCCACCCAGCCTCTCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCC CCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0199 a0001c0001t0003g0199	1	318	0.0031	206	c.-15 others(217): Show c.-1533_-1532insCACAGGGGGGGAGAGGCTGGGTGGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG AGGGGAGAGGCTGGGTGGGGCACAGAGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1477		chr19	TogoVar
TIMM22_chr17_992129_1008671	993519	C C	CCCTCACG others(199): Show CCCTCACGTAATCCACCCTCACGTAATCCACCTCACATAATCCACCCACC CTCACATAATCCACCTCACATAATCCACCTCACATAATCCACCCTCACAT AATCCACCTCACATAATCCACCCTCACATAATCCACCTCACATAATCCAC CTCACATAATCCACCTCACATAATCCACCCTCACATAATCCACCCTCACA TAATCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01192.hp1 HG01884.hp2 others(20): Show HG01109.hp1 HG01192.hp1 HG01884.hp2 HG01952.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02257.hp2 HG02280.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03688.hp1 HG04228.hp1 NA18975.hp2 NA19089.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0029	a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0028 others(10): Show a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0028 a0001c0001t0003g0095 a0001c0001t0005g0015 a0001c0001t0008g0086 a0001c0001t0008g0088 a0001c0001t0008g0089 a0001c0001t0008g0092 a0001c0001t0008g0093 a0001c0001t0008g0094 a0001c0001t0011g0090 a0001c0001t0029g0091	23	289	0.0796	206	c.-36 others(217): Show c.-3624_-3623insCCTCACGTAATCCACCCTCACGTAATCCACCTCA CATAATCCACCCACCCTCACATAATCCACCTCACATAATCCACCTCACAT AATCCACCCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCA CCTCACATAATCCACCTCACATAATCCACCTCACATAATCCACCCTCACA TAATCCACCCTCACATAATCCA	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3609		chr17	TogoVar
TMCO3_chr13_113486021_113555229	113543413	C C	CCCCCACC others(199): Show CCCCCACCTCCTCCCCTTGCCCCCCCGCCCTCCCTCTGTCCGTGACCCCC TCCTCCCCCTGTGCCCCACCCTCTCTGTCTGTGACCCCCACCTCCTCCCC CTGCCCCCCGCCCTCCCTGTCCGTGACCACCTCCTCCCCCTGCCCCCGCC CTCCCTCTGTGGGTGACTCCACTTCCTCCCCCTGCCCCCCGCCCTCCCTG TCCGTGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG04204.hp1 HG03453.hp1 HG04204.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0046 a0003c0002t0002g0047 a0003c0002t0002g0046 a0003c0002t0002g0047	2	331	0.0060	206	c.169 others(225): Show c.1691-3872_1691-3871insTTGCCCCCCCGCCCTCCCTCTGTCCG TGACCCCCTCCTCCCCCTGTGCCCCACCCTCTCTGTCTGTGACCCCCACC TCCTCCCCCTGCCCCCCGCCCTCCCTGTCCGTGACCACCTCCTCCCCCTG CCCCCGCCCTCCCTCTGTGGGTGACTCCACTTCCTCCCCCTGCCCCCCGC CCTCCCTGTCCGTGACCCCACCTCCTCCCC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar

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