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
RPH3AL_chr17_207389_357807	294836	A A	ACAGAGGG others(296): Show ACAGAGGGAATGCACATCAGTGTGGGAGGGACACAGATGCTGCAGAAATG GACAGCAGAGGGAATGCACTTCAGTGTGGGAGGGACAGAGATGCTGCAGA AATGGATGGGCAGAGGGAATGCACATCAGTGTGGGAGGGACAGAGGAGCT GCAGAAATGGACGGGCAGAGGAAATGCACATCAGTGTGGGAGGGACAGAG GGAATGCACATCAGTGTGGGAGGGACAGAGGAGCTGCAGAAATGGATGGA CAGAGGGAATGCACATCAGTGTGGGAGGGACACAGATGCTGTAGAAATGG AAAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	127	0.0079	303	c.352 others(322): Show c.352-12983_352-12982insCTTTCCATTTCTACAGCATCTGTGTC CCTCCCACACTGATGTGCATTCCCTCTGTCCATCCATTTCTGCAGCTCCT CTGTCCCTCCCACACTGATGTGCATTCCCTCTGTCCCTCCCACACTGATG TGCATTTCCTCTGCCCGTCCATTTCTGCAGCTCCTCTGTCCCTCCCACAC TGATGTGCATTCCCTCTGCCCATCCATTTCTGCAGCATCTCTGTCCCTCC CACACTGAAGTGCATTCCCTCTGCTGTCCATTTCTGCAGCATCTGTGTCC CTCCCACACTGATGTGCATTCCCTCTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RTEL1_chr20_63653312_63701245	63693654	A A	ACCTCCAC others(296): Show ACCTCCACCACCACCTCCACCACCACCTCCACCTCCACCTCCACCTCCAC CTCCACCACCACCTCCACCACCTCCACCACCTCCACCACCTCCACCACCA CCACCACCTCCACCACCTCCACCTCCACCTCCACCACCACCACCACCTCC ACCACCACCTCCACCTCCACCACCACCTCCACCACCACCTCCACCTCCAC CACCACCTCCACCACCACCTCCACCACCTCCACCTCCACCTCCACCTCCA CCACCTCCACCACCACCACCACCACCACCACCTCCACCACCACCTCCACC ACCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	46	0.0217	303	c.299 others(320): Show c.2992+373_2992+374insTCCACCACCACCTCCACCACCACCTCCA CCTCCACCTCCACCTCCACCTCCACCACCACCTCCACCACCTCCACCACC TCCACCACCTCCACCACCACCACCACCTCCACCACCTCCACCTCCACCTC CACCACCACCACCACCTCCACCACCACCTCCACCTCCACCACCACCTCCA CCACCACCTCCACCTCCACCACCACCTCCACCACCACCTCCACCACCTCC ACCTCCACCTCCACCTCCACCACCTCCACCACCACCACCACCACCACCAC CTCCACCACCACCTCCACCACCTCC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(296): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCATAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02896.hp1 HG03471.hp2 HG02809.hp2 HG02896.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0153 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0153	3	150	0.0200	303	c.899 others(318): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GGCCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SCG5_chr15_32636710_32702092	32662486	T T	TGCTTTTC others(296): Show TGCTTTTCTTTTTCTTTTTCTTTTTCTTTCTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTA GCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC CCAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00741.hp1 HG01934.hp2 others(17): Show HG00544.hp2 HG00741.hp1 HG01934.hp2 HG01975.hp1 HG01993.hp1 HG02074.hp2 NA18747.hp2 NA18939.hp1 NA18946.hp1 NA18964.hp2 NA18989.hp2 NA18990.hp2 NA18992.hp2 NA19001.hp2 NA19058.hp2 NA19065.hp1 NA19072.hp1 NA19074.hp2 NA19078.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0103 a0001c0001t0001g0105 others(17): Show a0001c0001t0001g0051 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0147 a0001c0001t0001g0215 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0330 a0001c0001t0001g0345 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0351 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0381	20	387	0.0517	303	c.227 others(322): Show c.227-17271_227-17270insTTTCTTTTTCTTTTTCTTTCTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAGCTTTTCTT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(296): Show GGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGT GAGGGGTTGGGGTTGGGTGAGGGGGGTTGGGGTTGGGTGAGGGGGGTGGG GTGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTG GGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGA GTGA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	164	0.0061	303	c.464 others(316): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTTGGGGTTGGGTGAGGG GGGTGGGGTGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTT GGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SF3A3_chr1_37951975_37995022	37967099	T T	TAGAAAAA others(296): Show TAGAAAAATTAGACCGGGCGCGGTGGCTCACGCCTGTAATCCTAGCACTT TGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCGAGACCATTCT GGCTAACACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAAATAGCT GGGCGTGGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAATGAGGCAGG AGAATGGCGTGAACCCGGGAGGTGGAGCGTGCAGTGAGCCAAGATCGCGC CACTGCACTCCAGCCTGGGGACAGAGCGACACTCCGTCTCAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0372 a0001c0001t0008g0372	1	18	0.0556	303	c.137 others(320): Show c.1372+944_1372+945insTTTTTTTTTTTTTTGAGACGGAGTGTCG CTCTGTCCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCACGC TCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCATTCCCGAGTAGCTGG GACTGCAGGCGCCCGCCACCACGCCCAGCTATTTTTTTTGTATTTTTAGT AGAGACGAGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGACCT CGTGATCCACCCGTCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAG CCACCGCGCCCGGTCTAATTTTTCT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	15/16			chr1	TogoVar
SH3BP1_chr22_37634669_37661117	37656829	A A	AAATTTTT others(296): Show AAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0128 a0001c0011t0003g0128	1	406	0.0025	303	c.11 others(314): Show c.1145_*1146insAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	SH3BP1	ENSG00000100092.24	transcript	ENST00000649765.2	protein_coding		713		chr22	TogoVar
SKI_chr1_2223319_2315213	2281984	A A	AGAGATGC others(296): Show AGAGATGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACG CCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGA AGACAGGCGGCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG GCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGG CGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGAT CTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGA GAGC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	312	0.0032	303	c.970 others(322): Show c.970-20993_970-20992insAGATGCCCGAGAAGACAGGCGGCGGC GGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATC TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAG AGAGAGATGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGA CGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGA GAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGGACA GGCGGCGGCGGCGATCTTCAGAGAGCG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC19A1_chr21_45507565_45547440	45524406	T T	TGTTCACC others(296): Show TGTTCACCCCTGGGCCTCGGAGACTCACCTGCCCTAAGCGTTCACCCCTG GGCCTTGGAGGCTCATCACCCTGAGTGTTCACGCCTGGGCCTTGGAGGCT CACCTGCCCTGAGTGTTCACACCTGGGCCTCGGAGGCTCACCCGCCCTGA GTGTTCACACCTGGGCCTCAGAGGCTCACCCACCCTGAGCGTTCACCCCT GGGCCTTGGAGGCTCACCTGTCCTGAGCGTTCACCCCCGGGCCTCGGAGA CTCACCTGCCCTGAACGTTCACCCCTGGGCTTCGGAGGCTCACCCGCCCT GAGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp2 HG02897.hp2 others(4): Show HG02109.hp2 HG02630.hp2 HG02897.hp2 HG03130.hp2 HG03453.hp2 HG03579.hp2 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0004 a0005c0009 a0001c0004 a0005c0009	a0001c0004t0008 a0001c0004t0021 a0001c0004t0022 others(1): Show a0001c0004t0008 a0001c0004t0021 a0001c0004t0022 a0005c0009t0008	a0001c0004t0008g0174 a0001c0004t0008g0175 a0001c0004t0008g0176 others(4): Show a0001c0004t0008g0174 a0001c0004t0008g0175 a0001c0004t0008g0176 a0001c0004t0008g0177 a0001c0004t0021g0059 a0001c0004t0022g0058 a0005c0009t0008g0173	7	316	0.0222	303	c.129 others(322): Show c.1293+1410_1293+1411insGCTCAGGGCGGGTGAGCCTCCGAAGC CCAGGGGTGAACGTTCAGGGCAGGTGAGTCTCCGAGGCCCGGGGGTGAAC GCTCAGGACAGGTGAGCCTCCAAGGCCCAGGGGTGAACGCTCAGGGTGGG TGAGCCTCTGAGGCCCAGGTGTGAACACTCAGGGCGGGTGAGCCTCCGAG GCCCAGGTGTGAACACTCAGGGCAGGTGAGCCTCCAAGGCCCAGGCGTGA ACACTCAGGGTGATGAGCCTCCAAGGCCCAGGGGTGAACGCTTAGGGCAG GTGAGTCTCCGAGGCCCAGGGGTGAAC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	5/5			chr21	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(296): Show CAGTCAAAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp1 HG02818.hp2 others(2): Show HG02451.hp1 HG02630.hp1 HG02818.hp2 HG02886.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0013 a0001c0001t0022 a0001c0001t0010 a0001c0001t0013 a0001c0001t0022	a0001c0001t0010g0173 a0001c0001t0013g0037 a0001c0001t0013g0112 others(2): Show a0001c0001t0010g0173 a0001c0001t0013g0037 a0001c0001t0013g0112 a0001c0001t0022g0105 a0001c0001t0022g0110	5	74	0.0676	303	c.100 others(322): Show c.1003-9029_1003-9028insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTAGTCAAAGATCTTT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC38A7_chr16_58660109_58689770	58673093	T T	TTTTTTTT others(296): Show TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCC GGCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	390	0.0026	303	c.884 others(318): Show c.884-851_884-850insGGCCGGGCGCAGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAA	SLC38A7	ENSG00000103042.9	transcript	ENST00000219320.9	protein_coding	8/11			chr16	TogoVar
SLC9A3_chr5_465456_529449	507665	T T	TCCCCACC others(296): Show TCCCCACCCCACAGACACCTGAATCCTCACCCCACAGACGCCCGAATCTC CACCCCACAGACGCCCGAATCCCCACCCCACAGACGCCCGAATCCCCACC CCACAGACGCCCGAATCCCCACCCCACAGACGCCCGAATCCCCACCCCAC AGACGCCCGAATCCCCACCCCACAGACGCCGAATCCCCACCCCACAGACG CCCGAATCCCCACCCCACAGACGCCCGAATCCCCACCCCACAGACGCCCG AATCCCCACCCCACAGACGCCCGAATCCCCACCCCACAGACGCCCGAATC CCCA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	187	0.0053	303	c.212 others(322): Show c.212-15595_212-15594insTGGGGATTCGGGCGTCTGTGGGGTGG GGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGGGGAT TCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGGGGATTCGG CGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTC TGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTG GGGTGGGGATTCGGGCGTCTGTGGGGTGGAGATTCGGGCGTCTGTGGGGT GAGGATTCAGGTGTCTGTGGGGTGGGG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	507665	T T	TCCCCACC others(296): Show TCCCCACCCCACAGACACCTGAATCCTCACCCCACAGACGCCCGAATCTC CACCCCACAGACGCCCGAATCCCCACCCCACAGACGCCCGAATCCCCACC CCACAGACGCCCGAATCCCCACCCCACAGACGCCCGAATCCCCACCCCAC AGACGCCGAATCCCCACCCCACAGACGCCCGAATCCCCACCCCACAGACG CCCGAATCCCCACCCCACAGACGCCCGAATCCCCACCCCACAGACGCCCG AATCCCCACCCCACAGACGCCCGAATCCCCACCCCACAGACGCCCGAATC CCCA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0158 a0001c0008t0001g0158	1	187	0.0053	303	c.212 others(322): Show c.212-15595_212-15594insTGGGGATTCGGGCGTCTGTGGGGTGG GGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGGGGAT TCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGGGGATTCGG GCGTCTGTGGGGTGGGGATTCGGCGTCTGTGGGGTGGGGATTCGGGCGTC TGTGGGGTGGGGATTCGGGCGTCTGTGGGGTGGGGATTCGGGCGTCTGTG GGGTGGGGATTCGGGCGTCTGTGGGGTGGAGATTCGGGCGTCTGTGGGGT GAGGATTCAGGTGTCTGTGGGGTGGGG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	92029813	T T	TCATACAT others(296): Show TCATACATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0130 a0001c0001t0029g0130	1	136	0.0074	303	c.647 others(322): Show c.647-65057_647-65056insTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCCATACATTTTT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMOC2_chr6_168436184_168672992	168594809	C C	CCTCCTTC others(296): Show CCTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGAGGATCTCCGAGC TCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAG CTCCTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGAGGATCTCCGA GCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCG AGCTCCTCCTCCTTCCTAAGGCCTCATGGGCATCTTTCTAGAGGATCGCG GAGCTCCTCCTCATTCCTGAGGCCTCATGGGCATCTTTCTAGAGGATGGC CGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	177	0.0056	303	c.638 others(320): Show c.638-4004_638-4003insTCCTAAGGCCTCACAAGGGGCATCTTTC TAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTT CTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCACAAGGGGCATCTT TCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCT TTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTAAGGCCTCATGGGCATC TTTCTAGAGGATCGCGGAGCTCCTCCTCATTCCTGAGGCCTCATGGGCAT CTTTCTAGAGGATGGCCGAGCTCCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594937	G G	GGGCATCT others(296): Show GGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCAC AAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGC CTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGG CCTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0042 a0001c0008t0002g0042	1	76	0.0132	303	c.638 others(320): Show c.638-3881_638-3880insGGCATCTTTCTAGAGGATCTCCGAGCTC CTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCGGAGCT CCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGC TCCTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGAGGATCTCCGAG CTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGA GCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCG AGCTCCTCCTCCTTCCTGAGGCCTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SNX9_chr6_157818246_157950077	157827203	A A	AATATATA others(296): Show AATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATAT AATATATAAATATATATTATAGTTTATATAATATATAAATATATATTATA GTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATAT ATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATAT ATAAATATATATTATAGTTTATATAATATATAAATATTATAGTTTATATA ATATATAAATATTATAGTTTATATAATATATATATATTATAGTTTATATA ATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0059 a0002c0002t0002g0059	1	294	0.0034	303	c.12+ others(318): Show c.12+3758_12+3759insTATATATTATAGTTTATATAATATATAAAT ATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAAT ATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTT TATATAATATATAAATATATATTATAGTTTATATAATATATAAATATATA TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATTATAGTTTATATAATATATAAATATTATAGTTTATATAATATATA TATATTATAGTTTATATAATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827292	C C	CATATAGT others(296): Show CATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACA TATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAC ACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATA ATATATACACATATATTATAGTTTATATAATATATACACATATATTATAG TTTATATAATATATACACATATATTATAGTTTATATAATATATACACATA TATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATAT ACAT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	210	0.0048	303	c.12+ others(318): Show c.12+3851_12+3852insGTTTATATAATATATAAACATATAGTTTAT ATAATATATAAACATATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATAAAATATATTATAG TTTATATAATATATACATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(296): Show TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19082.hp2 HG03486.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0156 a0001c0001t0004g0085 a0001c0001t0001g0156 a0001c0001t0004g0085	2	130	0.0154	303	c.-13 others(320): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAA GTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORD_chr15_45018195_45082185	45072613	T T	TAAAGAAT others(296): Show TAAAGAATGGGAAGGCCGGGCGTGGCGGCTCATGCCTGTAATCCCAGCAC TTTGGGAAGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGAGCATC CTGGCTAACACGGTGACCCCTGTCTCTACTAAAAATACAAAAAATTAGCC AGGCATGGTGGTGGGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAGTGGTGTGAACCCAGGAGGCAGAGATTGCAGTGAGCGGAGATCGC ACCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCTGTCTCAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19030.hp2 HG03098.hp1 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0076 a0002c0002t0002g0239 a0002c0002t0002g0076 a0002c0002t0002g0239	2	284	0.0070	303	c.908 others(318): Show c.908+186_908+187insAGGCCGGGCGTGGCGGCTCATGCCTGTAAT CCCAGCACTTTGGGAAGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCG AGAGCATCCTGGCTAACACGGTGACCCCTGTCTCTACTAAAAATACAAAA AATTAGCCAGGCATGGTGGTGGGTGTCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAGTGGTGTGAACCCAGGAGGCAGAGATTGCAGTGAGCG GAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCTGTCT CAAAAAAAAAAAAAAGAATGGGA	SORD	ENSG00000140263.15	transcript	ENST00000267814.14	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TAATGATA others(296): Show TAATGATATATAATATATATCATTATATAACATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACATA TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATTATATAACAT GATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG02083.hp2 HG00280.hp1 HG00323.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0066 a0001c0004t0121 a0001c0001t0003 a0001c0001t0066 a0001c0004t0121	a0001c0001t0003g0303 a0001c0001t0066g0151 a0001c0004t0121g0229 a0001c0001t0003g0303 a0001c0001t0066g0151 a0001c0004t0121g0229	3	56	0.0536	303	c.-11 others(324): Show c.-112+29223_-112+29224insATGATATATAATATATATCATTAT ATAACATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATTATATAACATGATGA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(296): Show TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATGATATATAATATATATCATATAACA TATG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0129 a0001c0002t0129	a0001c0002t0129g0032 a0001c0002t0129g0032	1	54	0.0185	303	c.-11 others(324): Show c.-112+29225_-112+29226insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATGAT ATATAATATATATCATATAACATATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CATGATCT others(296): Show CATGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTT TTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCAG TTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0337	1	177	0.0056	303	c.245 others(320): Show c.245-1562_245-1561insATGATCTAGGCTCACTGCAACCTCCGCC TCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATT ACAGGCACCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGAC GGGGTTTCGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGAT CCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTG TGCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCT GTTGCCAAGGCTGGCACGCAGTTGT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(296): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTT TTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCAG TTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00609.hp1 others(31): Show HG00323.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG01175.hp1 HG02015.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp2 HG02165.hp1 HG02615.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG03130.hp2 HG03195.hp1 HG03492.hp1 HG03579.hp1 NA18612.hp1 NA18940.hp1 NA18947.hp2 NA18954.hp2 NA18967.hp1 NA18982.hp1 NA18984.hp2 NA18990.hp1 NA18994.hp1 NA19070.hp1 NA19074.hp1 NA21309.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0012 a0014	a0001c0001 a0002c0002 a0005c0007 others(3): Show a0001c0001 a0002c0002 a0005c0007 a0005c0014 a0012c0013 a0014c0015	a0001c0001t0003 a0002c0002t0002 a0005c0007t0002 others(3): Show a0001c0001t0003 a0002c0002t0002 a0005c0007t0002 a0005c0014t0002 a0012c0013t0002 a0014c0015t0002	a0001c0001t0003g0321 a0001c0001t0003g0326 a0001c0001t0003g0327 others(31): Show a0001c0001t0003g0321 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0339 a0002c0002t0002g0250 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0273 a0002c0002t0002g0276 a0002c0002t0002g0281 a0005c0007t0002g0261 a0005c0007t0002g0262 a0005c0007t0002g0269 a0005c0007t0002g0275 a0005c0014t0002g0279 a0012c0013t0002g0263 a0014c0015t0002g0277	34	210	0.1619	303	c.245 others(320): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGG CTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCA AGGCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(296): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTT TTTTTTTTTTTTGAGACAGGTCTCGTTTTGTTGCCAAGGCTGGCACGCAG TTGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03669.hp2 HG03831.hp2 others(3): Show HG03239.hp2 HG03669.hp2 HG03831.hp2 HG04115.hp1 HG04204.hp1 NA19057.hp1	a0001 a0001	a0001c0006 a0001c0009 a0001c0027 a0001c0006 a0001c0009 a0001c0027	a0001c0006t0001 a0001c0009t0001 a0001c0027t0001 a0001c0006t0001 a0001c0009t0001 a0001c0027t0001	a0001c0006t0001g0017 a0001c0006t0001g0018 a0001c0009t0001g0009 others(3): Show a0001c0006t0001g0017 a0001c0006t0001g0018 a0001c0009t0001g0009 a0001c0009t0001g0010 a0001c0009t0001g0014 a0001c0027t0001g0021	6	182	0.0330	303	c.245 others(320): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGG CTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTTTGTTGCCA AGGCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(296): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGAGGGGAGGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG GGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0092 a0003c0003t0001g0092	1	6	0.1667	303	c.138 others(322): Show c.1384-5708_1384-5707insCTCCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(296): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GGAG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0112 a0003c0003t0001g0112	1	6	0.1667	303	c.138 others(322): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807415	G G	GGAGGGGA others(296): Show GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGGAGGGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0091 a0003c0003t0002g0091	1	256	0.0039	303	c.138 others(322): Show c.1384-5711_1384-5710insTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SRBD1_chr2_45383680_45616267	45586968	A A	ATATTAAA others(296): Show ATATTAAAATATTTAAAATTATTTTAAATTATAAATATTAAAATATTTAA AATTATTTTAAAATATAATTATTAAAATATTTAAAATTATTTTAAATATT TAATTATTTTAAATTATAAATATTAAAATATTTAAAAATTTTTAAATATT TAATTATTTTAAATTATAAATATTAAAATATTTAAAATTTTTTAAATATT TAATTATTTTAAAATATAATTATTAAAATATTTAAAATTTTTTAAATATT TAATTATTTTAAATTATAAATATTAAAATATTTAAAATTATTTTAAAATA TAAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	284	0.0035	303	c.649 others(320): Show c.649-1195_649-1194insATTATATTTTAAAATAATTTTAAATATT TTAATATTTATAATTTAAAATAATTAAATATTTAAAAAATTTTAAATATT TTAATAATTATATTTTAAAATAATTAAATATTTAAAAAATTTTAAATATT TTAATATTTATAATTTAAAATAATTAAATATTTAAAAATTTTTAAATATT TTAATATTTATAATTTAAAATAATTAAATATTTAAAATAATTTTAAATAT TTTAATAATTATATTTTAAAATAATTTTAAATATTTTAATATTTATAATT TAAAATAATTTTAAATATTTTAATA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRP68_chr17_76033785_76077517	76050728	G G	GGGGAGTT others(296): Show GGGGAGTTCTATTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	188	0.0053	303	c.979 others(318): Show c.979-203_979-202insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTC TCAAAAAAAAAAATAGAACTCCC	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	8/15			chr17	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76390943	T T	TATTTTTT others(296): Show TATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0040 a0001c0003t0003g0040	1	85	0.0118	303	c.214 others(322): Show c.214-21065_214-21064insATTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCC	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	2/4			chr1	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(296): Show GATTATAAAATATAATTATATATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02886.hp1 HG03041.hp1 others(2): Show HG02280.hp1 HG02886.hp1 HG03041.hp1 NA18960.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 a0001c0001t0001 a0001c0001t0005 a0001c0001t0017	a0001c0001t0001g0177 a0001c0001t0001g0186 a0001c0001t0001g0212 others(2): Show a0001c0001t0001g0177 a0001c0001t0001g0186 a0001c0001t0001g0212 a0001c0001t0005g0077 a0001c0001t0017g0191	5	13	0.3846	303	c.75 others(314): Show c.7501_*7502insATTATAAAATATAATTATATATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUZ12_chr17_31932007_32006038	31957709	C C	CCAGTTTT others(296): Show CCAGTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCCGGACTGCAGTGG CGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACAGCGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAACC AAGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03579.hp2 HG02559.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0018 a0001c0001t0010g0020 a0001c0001t0003g0018 a0001c0001t0010g0020	2	274	0.0073	303	c.456 others(320): Show c.456-8422_456-8421insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCCGGACTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACA GCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGT TAACCAAGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTCAGTTTTTGTATTTTT	SUZ12	ENSG00000178691.11	transcript	ENST00000322652.10	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
SYTL3_chr6_158645054_158769871	158701191	G G	GATGAAGG others(296): Show GATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTAGGGGAGGA GCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGG ACTGTCTGGGGGTAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGC TGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGA GCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGT CTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGT GTAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	268	0.0037	303	c.395 others(320): Show c.395-6006_395-6005insGCTGTCTAGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGACTGTCTGGGGG TAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGAT GAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAG ATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTGGGGGAGGAG CCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGA GTGTGAGCTGGGGTGTAGATGAAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAFA5_chr22_48484553_48756932	48736154	T T	TAGAGTCC others(296): Show TAGAGTCCATCCCCCCAGGAGGAATGAGAATCACACTCCTAGAGTCCAGA GTCCATCCCCCCAGGAGGAATGAGAATCGCACTCCCAGAGTCCAGAGCCC ATCCCCCCAGGAGGAATGAGAATCACACTCCTAGAGTCCATCCCCCCCAG GAGGAATGAGAATCACGCTCCCAGAGTCCAGAGTCCATCCCCCCAGGAGG AATGAGAATCGCACTCCCAGAGTCCAGAGCCCATCCCCCCAGGAGGAATG AGAATCACACTCCTAGAGTCCATCCCCCCCAGGAGGAATGAGAATCACGC TCCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02258.hp1 HG02723.hp1 others(3): Show HG00639.hp2 HG02258.hp1 HG02723.hp1 HG03942.hp2 HG04204.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0038	a0001c0001t0001g0257 a0001c0001t0002g0047 a0001c0001t0002g0076 others(3): Show a0001c0001t0001g0257 a0001c0001t0002g0047 a0001c0001t0002g0076 a0001c0001t0002g0117 a0001c0001t0005g0119 a0001c0001t0038g0196	6	242	0.0248	303	c.391 others(322): Show c.391-13677_391-13676insTCCCCCCAGGAGGAATGAGAATCACA CTCCTAGAGTCCAGAGTCCATCCCCCCAGGAGGAATGAGAATCGCACTCC CAGAGTCCAGAGCCCATCCCCCCAGGAGGAATGAGAATCACACTCCTAGA GTCCATCCCCCCCAGGAGGAATGAGAATCACGCTCCCAGAGTCCAGAGTC CATCCCCCCAGGAGGAATGAGAATCGCACTCCCAGAGTCCAGAGCCCATC CCCCCAGGAGGAATGAGAATCACACTCCTAGAGTCCATCCCCCCCAGGAG GAATGAGAATCACGCTCCCAGAGTCCA	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(296): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCCCCCTCCCCCTCCTCTCCCTTCC CCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCTCCC CCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCTTCC CCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCC CCCT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	160	0.0063	303	c.186 others(320): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCCCCCT CCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCC TCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGT CCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(296): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCTC CCCCCTCCCCTCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCTTCC CCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCC CCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	160	0.0063	303	c.186 others(320): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCC CCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCTCTCCCT TCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGT CCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TCF3_chr19_1604292_1657615	1628124	A A	ATGAGGCG others(296): Show ATGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGA CAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGG GGTGAGGCGGGAAAGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGG ACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGG GGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGG GACAGCAGAGCTCACAGGGGGTGAGGCGGGAAAGGGACAGCAGAACTCAC GGGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0036 a0003c0006t0036	a0003c0006t0036g0342 a0003c0006t0036g0342	1	127	0.0079	303	c.299 others(318): Show c.299-699_299-698insCCCCGTGAGTTCTGCTGTCCCTTTCCCGCC TCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCC GCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTT CTGCTGTCCCTTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCC CGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGT TCTGCTGTCCCCTTCCCGCCTCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628871	C C	CGGGGTGA others(296): Show CGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCATGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAACTC ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCT CATG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03834.hp2 NA18944.hp2 HG02083.hp1 HG03834.hp2 NA18944.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0001 a0001c0005 a0002c0001	a0001c0005t0009 a0002c0001t0006 a0002c0001t0007 a0001c0005t0009 a0002c0001t0006 a0002c0001t0007	a0001c0005t0009g0029 a0002c0001t0006g0055 a0002c0001t0007g0062 a0001c0005t0009g0029 a0002c0001t0006g0055 a0002c0001t0007g0062	3	209	0.0144	303	c.299 others(320): Show c.299-1446_299-1445insCATGAGCTCTGCTGTCCCCTTCCCACCT CACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCC CCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCT GCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCATGAGCTC TGCTGTCCCCTTCCCACCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1272821	A A	ACATCAGA others(296): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCC CACGACCGCCATCCACAGTCACATCAGACCCCACAACCGCCATCCACAGT CACATCAGACCCCCACAACCGCCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCA CAGT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18985.hp2 NA18971.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0336 a0001c0003t0001g0251 a0001c0001t0001g0336 a0001c0003t0001g0251	2	378	0.0053	303	c.228 others(320): Show c.2287-542_2287-541insACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTTGTGGGGGTCTGATGTGACTGTGGATGGCGGTTGTGGGGTC TGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272966	A A	ACATCAGA others(296): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAG ACCCCACGACCGCCATCCACAGTCACATCAGACCCCACAACCGCCATCCA CAGT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19068.hp1 NA19076.hp1 NA18966.hp1 NA19068.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0373 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0373	3	371	0.0081	303	c.228 others(320): Show c.2287-687_2287-686insACTGTGGATGGCGGTTGTGGGGTCTGAT GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATG GCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTC TGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THBS3_chr1_155190588_155212897	155190623	G G	GTCCGGGG others(296): Show GTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGG GCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGG TGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCT GGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGA CACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGG GCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCT GCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	253	0.0040	303	c.52 others(314): Show c.5217_*5218insGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCA GCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCAC CGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGACACCAGGCCGGCCC CGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGGACAC CAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCG GCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACG GTGTCACCTCGGCCCCGGA	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4964		chr1	TogoVar
TMEM106B_chr7_12206294_12248367	12208349	G G	GGAAATAT others(296): Show GGAAATATAGAAGATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCCGGCTAACACGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0118 a0001c0001t0040g0118	1	396	0.0025	303	c.-30 others(314): Show c.-3079_-3078insGAAATATAGAAGATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAACACG GTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	TMEM106B	ENSG00000106460.20	transcript	ENST00000396668.8	protein_coding		2944		chr7	TogoVar
TMEM132D_chr12_129066726_129909025	129190421	G G	GAGTCTCA others(296): Show GAGTCTCAGGCCTGCAGATGGAGGGAGGGAGTCTCAGGCCTGCAGATGGA GGGAGGGAGTCTCAGGCCTGCAGATGGAGGGAGGGGGTCTCAGGCCTGCA GAGGGAGGGAGGGGTCCCAGGCCTGCAGATGGAGGGAGGGGTCTCAGGCC TGCAGATGGAGGGAGGGGTCTCGGCCTGCAGATGGAGGGAGGGAGTCTCA GGCCTGCAGATGGAGGGAGGGAGTCTCAGGCCTGCAGATGGAGGGAGGGG TCTCGGCCTGCAGATGGAGGGAGGGAGTCTCAGGCCTGCAGATGGAGGGA GGGA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0005 a0001c0001t0015g0005	1	76	0.0132	303	c.144 others(324): Show c.1443+19098_1443+19099insTCCCTCCCTCCATCTGCAGGCCTG AGACTCCCTCCCTCCATCTGCAGGCCGAGACCCCTCCCTCCATCTGCAGG CCTGAGACTCCCTCCCTCCATCTGCAGGCCTGAGACTCCCTCCCTCCATC TGCAGGCCGAGACCCCTCCCTCCATCTGCAGGCCTGAGACCCCTCCCTCC ATCTGCAGGCCTGGGACCCCTCCCTCCCTCTGCAGGCCTGAGACCCCCTC CCTCCATCTGCAGGCCTGAGACTCCCTCCCTCCATCTGCAGGCCTGAGAC TCCCTCCCTCCATCTGCAGGCCTGAGACT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM51_chr1_15148747_15225478	15170144	C C	CTGTCATA others(296): Show CTGTCATAATTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTC CCAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0028 a0001c0007t0028	a0001c0007t0028g0190 a0001c0007t0028g0190	1	294	0.0034	303	c.-26 others(324): Show c.-267+16206_-267+16207insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACCGCGCCCGGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGC CTCGGCCTCCCAATGTCATAATTATTTTT	TMEM51	ENSG00000171729.14	transcript	ENST00000376008.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(296): Show TTATATATAAATATATATTATTTTATATATTTATATATAAATATATTTTA TATATTATATATAAATATATTTTATATATTTATATATAAATATATATTTT TATATATTTATATATAAATATATATTCTTTTATATATTTATATATATATT TATATATAAATATATATTCTTTTATATATTTATATATAAATATATATTCT TTTATATATTTATATATAAATATACTTTTATATATTTATATATAAATATA TATTCTTTTATATATTTATATATAAATATATATTCTTTTATATATTTATA TATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	2	3	0.6667	303	c.11 others(316): Show c.11218_*11219insTATATATAAATATATAAAAGAATATATATTTA TATATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGTA TATTTATATATAAATATATAAAAGAATATATATTTATATATAAATATATA AAAGAATATATATTTATATATAAATATATATATAAATATATAAAAGAATA TATATTTATATATAAATATATAAAAATATATATTTATATATAAATATATA AAATATATTTATATATAATATATAAAATATATTTATATATAAATATATAA AATAATATATATTTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TNFRSF6B_chr20_63691652_63703684	63693654	A A	ACCTCCAC others(296): Show ACCTCCACCACCACCTCCACCACCACCTCCACCTCCACCTCCACCTCCAC CTCCACCACCACCTCCACCACCTCCACCACCTCCACCACCTCCACCACCA CCACCACCTCCACCACCTCCACCTCCACCTCCACCACCACCACCACCTCC ACCACCACCTCCACCTCCACCACCACCTCCACCACCACCTCCACCTCCAC CACCACCTCCACCACCACCTCCACCACCTCCACCTCCACCTCCACCTCCA CCACCTCCACCACCACCACCACCACCACCACCTCCACCACCACCTCCACC ACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	24	0.0417	303	c.-31 others(314): Show c.-3114_-3113insCCTCCACCACCACCTCCACCACCACCTCCACCTC CACCTCCACCTCCACCTCCACCACCACCTCCACCACCTCCACCACCTCCA CCACCTCCACCACCACCACCACCTCCACCACCTCCACCTCCACCTCCACC ACCACCACCACCTCCACCACCACCTCCACCTCCACCACCACCTCCACCAC CACCTCCACCTCCACCACCACCTCCACCACCACCTCCACCACCTCCACCT CCACCTCCACCTCCACCACCTCCACCACCACCACCACCACCACCACCTCC ACCACCACCTCCACCACCT	TNFRSF6B	ENSG00000243509.6	transcript	ENST00000369996.3	protein_coding		2997		chr20	TogoVar
TOLLIP_chr11_1269371_1314632	1287619	G G	GCCTCCCC others(296): Show GCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCGCCGC AGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCC CGCCGCAGCCTCACCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAG CCTCCCCGCCGCACCCTCTCCGCCGCAGCCTCCCCGCCGCACCCTCTCCG CCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCC TCCCCGCCGCAGCCTCCCCGCCGCACCCTCTCCGCCGCAGCCTCCCCGCC GCAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0032	2	262	0.0076	303	c.519 others(320): Show c.519+1004_519+1005insGTGCGGCGGGGAGGCTGCGGCGGAGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGGGTGCGGCGGGGAGGCTGCGGCGGAGAGGGTGCGGCGGGGAGGCT GCGGCGGAGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGG GAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGTGCGGCGGGGAGGCTG CGGCGGGGAGGGTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930757	G G	GGGGTTAG others(296): Show GGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGG TAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGC TGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAG GGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAG GCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	303	c.48 others(314): Show c.4833_*4834insTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAG CCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCTTAACCCTG GCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCT CCCTAACCCCGGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTA ACCCCAGCCTCCCTAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4612		chr11	TogoVar
TPO_chr2_1408463_1548673	1422296	C C	CGCAGGCG others(296): Show CGCAGGCGCCTCTCCTGGACCGACCTCGTGCAGGCGCCGCGCTGGACTGA CCTCGTGCAGGTGCCGCGCTGGACAGACCTCGTGCAGGCGCCTCTCCTGG ACCGACCTCGTGCAGACGCCGCGCTGGACAGACCTCGTGCAGGCGCCTCT CCTGGACAGACCTCGTGCAGCCGCCTCTCCTGGACAGACCTCGTGCAGGC GCCGCGCTGGACCGACCTCGTGCAGCCGCCTCTCCTGGACAGACCTCGTG CAGGCGCCTCTCCTGGACAGACCTCGTGCAGGCGCCGCGCTGGACCGACC TCGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00544.hp2 HG00597.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0023 a0001c0001 a0013c0023	a0001c0001t0002 a0013c0023t0001 a0001c0001t0002 a0013c0023t0001	a0001c0001t0002g0015 a0013c0023t0001g0016 a0001c0001t0002g0015 a0013c0023t0001g0016	2	103	0.0194	303	c.95- others(316): Show c.95-730_95-729insCGACCTCGTGCAGGCGCCGCGCTGGACTGACC TCGTGCAGGTGCCGCGCTGGACAGACCTCGTGCAGGCGCCTCTCCTGGAC CGACCTCGTGCAGACGCCGCGCTGGACAGACCTCGTGCAGGCGCCTCTCC TGGACAGACCTCGTGCAGCCGCCTCTCCTGGACAGACCTCGTGCAGGCGC CGCGCTGGACCGACCTCGTGCAGCCGCCTCTCCTGGACAGACCTCGTGCA GGCGCCTCTCCTGGACAGACCTCGTGCAGGCGCCGCGCTGGACCGACCTC GTGCAGGCGCCTCTCCTGGAC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar

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