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
RAB11FIP3_chr16_420649_528011	511039	C C	CAGGTAGG others(380): Show CAGGTAGGAGAAGTTCCCCGACGGCCCGCCAACCCCAGAACCTGCAGGCC AGGTAGGAGAAGTTCCCCGACGGCCCGCCAACCCCAGAACCTGCAGGCCA GGTAGGAGAGGTTCCCGACGGCCCGCCCACCCCAGAAACTGCAGGCCAGG CAGGAGAGGTTCCCGACAGCCTGCCCACCCCAGAAACTGCAGGCCAGGTA GGAGAGGTTCTTGACAGCCCGCCCACCCCAGAAACTGCAGGCCAGGCAGG AGAGGTTCCTGACGGCCCGCCCACCCCAGAAACTGCAGGCCAGGTAGGAG AGGTTCCCGACAGCCCGCCAACCCCAGAACCTGCAGGCCAGGTAGGAGAA GTTCCCCGACAGTCCGCCAACCCCAGAACCTGCCGGCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02074.hp2 HG02559.hp1 others(8): Show HG01070.hp2 HG02074.hp2 HG02559.hp1 HG02738.hp2 HG03669.hp1 NA18967.hp2 NA18984.hp2 NA19004.hp2 NA19012.hp2 NA19054.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0030 a0001c0001t0052	a0001c0001t0003g0075 a0001c0001t0004g0073 a0001c0001t0008g0062 others(8): Show a0001c0001t0003g0075 a0001c0001t0004g0073 a0001c0001t0008g0062 a0001c0001t0008g0064 a0001c0001t0008g0068 a0001c0001t0008g0076 a0001c0001t0008g0077 a0001c0001t0008g0148 a0001c0001t0011g0179 a0001c0001t0030g0020 a0001c0001t0052g0063	11	294	0.0374	387	c.164 others(404): Show c.1640+347_1640+348insGGTTCCCGACGGCCCGCCCACCCCAGAA ACTGCAGGCCAGGCAGGAGAGGTTCCCGACAGCCTGCCCACCCCAGAAAC TGCAGGCCAGGTAGGAGAGGTTCTTGACAGCCCGCCCACCCCAGAAACTG CAGGCCAGGCAGGAGAGGTTCCTGACGGCCCGCCCACCCCAGAAACTGCA GGCCAGGTAGGAGAGGTTCCCGACAGCCCGCCAACCCCAGAACCTGCAGG CCAGGTAGGAGAAGTTCCCCGACAGTCCGCCAACCCCAGAACCTGCCGGC TAGGTAGGAGAAGTTCCCCGACGGCCCGCCAACCCCAGAACCTGCAGGCC AGGTAGGAGAAGTTCCCCGACGGCCCGCCAACCCCAGAACCTGCAGGCCA GGTAGGAGA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB3B_chr1_51902956_51995700	51906869	A A	AAGGGAAG others(380): Show AAGGGAAGGAAGGAAGGAGGGAGGAGGGAGGGAGGAAGGAGGGAGGGAGG AAGGAAGGAAGGGGAGGAGGAAGGAGAGAGGAAGGAGGAAGGAAGGAAGG GAGGAAGGGAGGGAGGGAGGGAGGAAGGAGGGAAGGAAGGAAGGGAGGGA GGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGAAAGGAAAGAAGGAGGG AGGAGGGAGGAAGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGA AGGGAGGGAGGGAGGAAGGAGGGAAGAAAGGAAAGAAGGAGGGAGGAGGG AGGAAGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGAAAG ATGAAGGAAGGAAGGAAGGAAAGATGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0015 a0001c0001t0012g0015	1	13	0.0769	387	c.13 others(400): Show c.13057_*13058insCCTTCCTTCCTTCATCTTTCCTTCCTTCCTTC CTTCATCTTTCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTC CTTCCTCCCTCCTCCCTCCTTCTTTCCTTTCTTCCCTCCTTCCTCCCTCC CTCCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCTTCCTC CCTCCTCCCTCCTTCTTTCCTTTCTTCCTTCCTTCCTCCCTCCCTTCCTT CCTTCCTCCCTCCCTTCCTTCCTTCCCTCCTTCCTCCCTCCCTCCCTCCC TTCCTCCCTTCCTTCCTTCCTCCTTCCTCTCTCCTTCCTCCTCCCCTTCC TTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCTCCCTCCTTCCTTCCT TCCCT	RAB3B	ENSG00000169213.7	transcript	ENST00000371655.4	protein_coding		1086		chr1	TogoVar
RAB40B_chr17_82649973_82703698	82691993	A A	AGCAGAGC others(380): Show AGCAGAGCAGTGGGGCCCGCACGGTCCGTGGGCTGAGGTGACAGGCAGAG CAGTGGGGCCCGCACGGTCCGTGGGCTGAGGTGACAGGCAGAGCAGTGGG GCCCGCACGGTCCGTGGGCTGAGGTGACAGGCAGAGCAGTGGGGCCCGCA CGGTCCGTGGGCTGAGGTGACAGGCAGAGCAGTGGGGCCCGCACGGTCCG TGGGCTGAGGTGACAGGCAGAGCAGTGGGGCCCGCACGGTCCGTGGGCTG AGGTGACAGGCAGAGCAGTGGGGCCCGCACGGTCCGTGGGCTGAGGTGAC AGGCAGAGCAGTGGGGCCCGCACGGTCCGTGGGCTGAGGTGACAGGCAGA GCAGTGGGGCCCGCACGGTCCGTGGGCTGAGGTGACAG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0318 a0001c0004t0001g0318	1	255	0.0039	387	c.142 others(404): Show c.142+6461_142+6462insCTGTCACCTCAGCCCACGGACCGTGCGG GCCCCACTGCTCTGCCTGTCACCTCAGCCCACGGACCGTGCGGGCCCCAC TGCTCTGCCTGTCACCTCAGCCCACGGACCGTGCGGGCCCCACTGCTCTG CCTGTCACCTCAGCCCACGGACCGTGCGGGCCCCACTGCTCTGCCTGTCA CCTCAGCCCACGGACCGTGCGGGCCCCACTGCTCTGCCTGTCACCTCAGC CCACGGACCGTGCGGGCCCCACTGCTCTGCCTGTCACCTCAGCCCACGGA CCGTGCGGGCCCCACTGCTCTGCCTGTCACCTCAGCCCACGGACCGTGCG GGCCCCACTGCTCTGCCTGTCACCTCAGCCCACGGACCGTGCGGGCCCCA CTGCTCTGC	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAGG others(380): Show AGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGG GGGAGAGGGGGGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGG AGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGG GAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAG GGGACGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGG GGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0151 a0001c0003t0002g0151	1	30	0.0333	387	c.36 others(398): Show c.3638_*3639insGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGG AGGGGGGAGGAGGGGAGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGA GGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGAGGAGGGGAGGGGGAGGA GGGAAGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGAA GGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGG GAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGAGGAGGGGAGGGGGGAGG AGGGGAGGGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGA GGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REPS2_chrX_16941658_17158272	17050133	C C	CCTTTCTT others(380): Show CCTTTCTTGCTGCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCCTTT CTTTCTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCT TTTCTTTTTCTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	151	0.0066	387	c.908 others(404): Show c.908-2242_908-2241insGCTGCCTTCCTTCCTTCCTTTCTTTCTT TCTTTCTTTCCTTTCTTTCTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTT CTTTCTTTCTTTCTTTTCTTTTTCTCTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCT TTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(380): Show AATATATATATTTAAATATATATATTAAAAATATATATATTTAAATATAT ATATTTTTAAATATGTATATTTAAATTATATAATTTAAATATATATTAAT ATACATATTTTAATATATATAATTTAATATATATCTTTAAATATATATAA ATATATATTTAAATATATATATTTAAATATATATTAATATATATATTTAA AGATTATATATTAAATTATATATATTAAAATATGTATATTAATATATATT TAAATTATATAATTTAAATATACATATTTAAAAATATATATATTTAAATA TATATATTTTTAATATATATATTTTTAAATATATATTTTTATATATATAT ATTTATATATATATTTTTAAATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0075 a0001c0003t0002g0075	1	6	0.1667	387	c.182 others(404): Show c.182-2703_182-2702insTATATATATTAAAAATATATATATTTAA ATATATATATTTTTAAATATGTATATTTAAATTATATAATTTAAATATAT ATTAATATACATATTTTAATATATATAATTTAATATATATCTTTAAATAT ATATAAATATATATTTAAATATATATATTTAAATATATATTAATATATAT ATTTAAAGATTATATATTAAATTATATATATTAAAATATGTATATTAATA TATATTTAAATTATATAATTTAAATATACATATTTAAAAATATATATATT TAAATATATATATTTTTAATATATATATTTTTAAATATATATTTTTATAT ATATATATTTATATATATATTTTTAAATATATATATATATATTTATATAT ATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(380): Show AATATATATATTTAAATATATATATTAAAAATATATATATTTAAATATAT ATATTTTTAAATATGTATATTTAAATTATATAATTTAAATATATATTAAT ATACATATTTTAATATATATAATTTAATATATATCTTTAAATATATATAA ATATATATTTAAATATATATTAATATATATATTTAAAGATTATATATTAA ATTATATATATTAAAATATGTATATTAATATATATTTAAATTATATAATT TAAATATACATATTTAAAAATATATATATTTAAATATATATATTTTTAAT ATATATATTTTTAAATATATATATTTATATATATATTTTTATATATATAT ATTTATATATATATTTTTAAATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0077 a0001c0003t0002g0077	1	6	0.1667	387	c.182 others(404): Show c.182-2703_182-2702insTATATATATTAAAAATATATATATTTAA ATATATATATTTTTAAATATGTATATTTAAATTATATAATTTAAATATAT ATTAATATACATATTTTAATATATATAATTTAATATATATCTTTAAATAT ATATAAATATATATTTAAATATATATTAATATATATATTTAAAGATTATA TATTAAATTATATATATTAAAATATGTATATTAATATATATTTAAATTAT ATAATTTAAATATACATATTTAAAAATATATATATTTAAATATATATATT TTTAATATATATATTTTTAAATATATATATTTATATATATATTTTTATAT ATATATATTTATATATATATTTTTAAATATATATATATATATTTATATAT ATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(380): Show GGAGGAGGGAGGAGGAGGGAGGGGGAGGGAGGGGGAGGGAGGAGGAGGGA GGGGGAGGGAGGAGGAGGGAGGGGGAGGGAGGAGGAGGGAGGGGGAGGGA GGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGGAGGGGGAGGAG GGAGGGAGGGGGAGGGAGGGAGGAGGAGGGAGGGGGAGGAGGGAGGGGGA GGAGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGAAGGAGAAGAA GGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGGAGGAGAAGGAGGAGG AGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAG AAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	2	0.5000	387	c.807 others(404): Show c.807-1376_807-1375insTCCTCCTTCTCCTCCTCCTCCTTCTCCT CCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCCTCCTTCTCCTCCTCC TCCTTCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCTTCCTCTT CCTCTTCTCCTTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCC CCCTCCCTCCTCCCCCTCCCTCCTCCCCCTCCCTCCTCCTCCCTCCCTCC CCCTCCCTCCCTCCTCCCCCTCCCTCCCCCTCCCTCCCCCTCCCTCCCCC TCCCTCCCCCTCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCTCC TCCCTCCCCCTCCCTCCTCCTCCCTCCCCCTCCCTCCCCCTCCCTCCTCC TCCCTCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
SAGE1_chrX_135888716_135918062	135906203	T T	TCATATGC others(380): Show TCATATGCATACATAGTGCCATGAAGGGAGTAAGGTGGTTTTGTTGTGTT ATCGTTTCTGGCCTAAATCTGAGGGGTCTCACATCACCACCTGATATATC CTACTGCTTTATGAAATAATTTCATAGAAACTGAGCACCAGAGGGATATA CTTGTGAGTTGGCATAATGCACTTACCTCACAGCTCAACCTCTTCCTTTG GTTTCCAGATGCTACAGTCACTCACAATGTCTGTGAACAGAAGATGGAAA ATGTCCAACCAGCACCTGATAACGTGTTGTTGACTCTTCGACCACGGCGT ATTAATATGACAGACACTGGTATTTCACCCATGAGTACCAGGGATCCATG TAAGTTTGTTTATTTGTATTACTGTCCTACTTGGTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(42): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00438.hp2 HG00544.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01074.hp1 HG01106.hp1 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01993.hp1 HG02080.hp2 HG02165.hp1 HG02523.hp2 HG02559.hp1 HG02735.hp1 HG02886.hp1 HG02970.hp1 HG03139.hp1 HG03516.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18942.hp1 NA18945.hp1 NA18962.hp1 NA18964.hp2 NA18975.hp2 NA18985.hp1 NA18990.hp1 NA18991.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19067.hp1 NA19072.hp1 NA19074.hp2 NA19079.hp1 NA19081.hp1 NA20129.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0007 a0003c0003 a0002c0002 a0002c0007 a0003c0003	a0002c0002t0001 a0002c0007t0001 a0003c0003t0001 a0002c0002t0001 a0002c0007t0001 a0003c0003t0001	a0002c0002t0001g0002 a0002c0002t0001g0011 a0002c0002t0001g0048 others(13): Show a0002c0002t0001g0002 a0002c0002t0001g0011 a0002c0002t0001g0048 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0007t0001g0058 a0003c0003t0001g0005 a0003c0003t0001g0012 a0003c0003t0001g0019 a0003c0003t0001g0049 a0003c0003t0001g0051 a0003c0003t0001g0052 a0003c0003t0001g0059	45	247	0.1822	387	c.595 others(400): Show c.595+69_595+70insAAGGTGGTTTTGTTGTGTTATCGTTTCTGGCC TAAATCTGAGGGGTCTCACATCACCACCTGATATATCCTACTGCTTTATG AAATAATTTCATAGAAACTGAGCACCAGAGGGATATACTTGTGAGTTGGC ATAATGCACTTACCTCACAGCTCAACCTCTTCCTTTGGTTTCCAGATGCT ACAGTCACTCACAATGTCTGTGAACAGAAGATGGAAAATGTCCAACCAGC ACCTGATAACGTGTTGTTGACTCTTCGACCACGGCGTATTAATATGACAG ACACTGGTATTTCACCCATGAGTACCAGGGATCCATGTAAGTTTGTTTAT TTGTATTACTGTCCTACTTGGTTTCCATATGCATACATAGTGCCATGAAG GGAGT	SAGE1	ENSG00000181433.12	transcript	ENST00000370709.4	protein_coding	6/19		INFO_REALIGN_3_PRIME	chrX	TogoVar
SAGE1_chrX_135888716_135918062	135906206	T T	TATGCATA others(380): Show TATGCATACATAGTGCCATGAAGGGAGTAAGGTGGTTTTGTTGTGTTATC GTTTCTGGCCTAAATCTGAGGGGTCTCACATCACCACCTGATATATCCTA CTGCTTTATGAAATAATTTCATAGAAACTGAGCACCAGAGGGATATACTT GTGAGTTGGCATAATGCACTTACCTCACAGCTCAACCTCTTCCTTTGGTT TCCAGATGCTACAGTCACTCACAATGTCTGTGAACAGAAGATGGAAAATG TCCAACCAGCACCTGATAACGTGTTGTTGACTCTTCGACCACGGCGTATT AATATGACAGACACTGGTATTTCACCCATGAGTACCAGGGATCCATGTAA GTTTGTTTATTTGTATTACTGTCCTACTTGGTTTCCAA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	247	0.0040	387	c.595 others(400): Show c.595+69_595+70insAAGGTGGTTTTGTTGTGTTATCGTTTCTGGCC TAAATCTGAGGGGTCTCACATCACCACCTGATATATCCTACTGCTTTATG AAATAATTTCATAGAAACTGAGCACCAGAGGGATATACTTGTGAGTTGGC ATAATGCACTTACCTCACAGCTCAACCTCTTCCTTTGGTTTCCAGATGCT ACAGTCACTCACAATGTCTGTGAACAGAAGATGGAAAATGTCCAACCAGC ACCTGATAACGTGTTGTTGACTCTTCGACCACGGCGTATTAATATGACAG ACACTGGTATTTCACCCATGAGTACCAGGGATCCATGTAAGTTTGTTTAT TTGTATTACTGTCCTACTTGGTTTCCAAATGCATACATAGTGCCATGAAG GGAGT	SAGE1	ENSG00000181433.12	transcript	ENST00000370709.4	protein_coding	6/19		INFO_REALIGN_3_PRIME	chrX	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(380): Show CATATATATATATTCCCTATATATATATTCCATATATATATATTCCCTAT ATATATATTCCATATATATATATTCCCTATATATATATTCCATATATATA TATTCCCTATATATATATTCCCTATATATATATTCCATATATATATATTC CATATATATATTCCATATATATATATTCCATATATATATATTTCATATAT ATATATTCCATATATATATTCCATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATTCCATATATATATATATAT ATATATTCCATATATATATATATTCCATATATATATATTCCATATATATA TATATATATATATTCCATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	39	0.0256	387	c.115 others(404): Show c.115-2706_115-2705insATATATATATATATATATATATGGAATA TATATATATATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATATATATATATATGGAATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATGGAATATATATA TGGAATATATATATATGAAATATATATATATGGAATATATATATATGGAA TATATATATGGAATATATATATATGGAATATATATATAGGGAATATATAT ATAGGGAATATATATATATGGAATATATATATAGGGAATATATATATATG GAATATATATATAGGGAATATATATATATGGAATATATATATAGGGAATA TATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(380): Show CATATATATATATTCCCTATATATATATTCCATATATATATTCCATATAT ATATATTCCATATATATATATTTCATATATATATATTCCATATATATATT CCATATATATATTCCATATATATATTCCATATATATATTCCATATATATA TTCCATATATATATTCCATATATATATTCCATATATATATTCCATATATA TATTCCATATATATATTCCATATATATATTCCATATATATATTCCATATA TATATTCCATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATTCCATATATATATATATATATATTCCATATATA TATATATATATATATTCCATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	39	0.0256	387	c.115 others(404): Show c.115-2706_115-2705insATATATATATATATATATATGGAATATA TATATATATATATATATGGAATATATATATATATATATATGGAATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATAT ATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATAT ATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAAT ATATATATGGAATATATATATGGAATATATATATATGAAATATATATATA TGGAATATATATATATGGAATATATATATGGAATATATATATAGGGAATA TATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SERINC2_chr1_31408213_31439678	31431777	A A	ATAGGGTG others(380): Show ATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGA CAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGG TGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTA GGGTGGATAGGATGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0245 a0001c0003t0001g0245	1	337	0.0030	387	c.101 others(406): Show c.1014-1182_1014-1181insTTAGGGTGGATAGGATGGTTAGGGTG GACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAG GATGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGATGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGTTAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGTTAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431796	T T	TAGGATGG others(380): Show TAGGATGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGTTAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATA GGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GATGGTTAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0252 a0001c0003t0001g0252	1	330	0.0030	387	c.101 others(406): Show c.1014-1168_1014-1167insATGGTTAGGGTGGACAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGG ACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGG GTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGATAGGGT GGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTA GGGTGGACAGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432137	A A	ATAGGATG others(380): Show ATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGG GTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGA TAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGA TGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAG AGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATAGGGT GGAGAGGGTGGTTAGGGTGGACAGGGTGGATAGGATGGTTAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTG GATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0309 a0002c0002t0001g0309	1	358	0.0028	387	c.101 others(404): Show c.1014-830_1014-829insTAGGATGGTTAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGT GGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATA GGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAG GGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGGACAGGGTGG ATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGG GTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGA GAGGGTGGT	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9			chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432164	A A	ATAGGGTG others(380): Show ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGGACAGGGTGGAGAGGGT GGATAGGGTGGTTAGGGTGCTTAGGGTGGATAGGGTGGATAGGGTGGATA GGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGACAGGGTGGATAGGGTGGATAGGATGGT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0139 a0001c0001t0007g0139	1	325	0.0031	387	c.101 others(404): Show c.1014-777_1014-776insATAGGGTGGATAGGGTGGATAGGGTGGA CAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGAGAGGGTGGTTAGGGTGGACAGGGTGGAGAGGGTGGATA GGGTGGTTAGGGTGCTTAGGGTGGATAGGGTGGATAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGACAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGG ATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432192	T T	TAGGGTGG others(380): Show TAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGG TGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGACAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTG GAGAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGACAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGG ATAGGGTGGTTAGGGTGGTTAGGGTGGAGAGGGTGGAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0273 a0002c0002t0002g0273	1	368	0.0027	387	c.101 others(404): Show c.1014-773_1014-772insGGTGGATAGGGTGGAGAGGGTGGAGAGG GTGGAGAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGA TAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGG TGGAGAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAG AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGATAGGATGGTTA GGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTG GAGAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGAGAG GGTGGAGAG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHROOM2_chrX_9781429_9954443	9791969	G G	GAGAATGG others(380): Show GAGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATAGAATGGAATAGAATGGAATGGAATGGAATAGAA TAGAATAGAATGGAATAGAATGGAATAGAATAGAATAGAAAATAGAATAG AATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0015 a0015	a0015c0067 a0015c0067	a0015c0067t0001 a0015c0067t0001	a0015c0067t0001g0004 a0015c0067t0001g0004	1	181	0.0055	387	c.165 others(404): Show c.165+5264_165+5265insGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGAATGGAATGGAATGGAATAGAATGGAATAGAATGGA ATGGAATGGAATAGAATAGAATAGAATGGAATAGAATGGAATAGAATAGA ATAGAAAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAAT	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGIRR_chr11_400716_419999	401902	G G	GACCCGCT others(380): Show GACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCC CGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTC ACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCCC GGACCCCGCTCACACCCGGACCCCGCTCACACCCGGCCCCGCTCACACCC GACCCGCTCACACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGC CCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCG CTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCA CCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0062 a0003c0005t0001g0062	1	184	0.0054	387	c.39 others(398): Show c.3993_*3994insGTCCCGGGTGAGCGGGGCGGGTGTGAGCGGGGCC GGGGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAGCGGGTCGGGTG TGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAG CGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGTGAGCG GGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGTCCGGGTGTGAGCGGG GTCCGGGGTGAGCGGGTCGGGGGTGAGCGGGGCTGGGGTGAGCGGGTCGG GGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTG AGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCG GGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3813		chr11	TogoVar
SLC12A6_chr15_34224784_34342781	34310174	A A	AGTGTGTG others(380): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCCCTGTGTCCAGGCTGGTG AACTCCTGGGCTCAAGTGTGTGTGTGTGTCCCCGTATCCAGGCTGGTGTT GAACTCCTGGGCTCAAGTGTGTGTGTGTGTGTGTCCCCGTGTCCAGGCTG GTGTTGAACTCCTGGGCTCAAGTGTGTGTGTGTGTCCCTGTGTCCAGGCT GGTGTTGAACTCCTGGGCTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTCCCCATGTCCAGGCTGGTGTTGAACTCCTGGGCTCAAGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTATGTATGTGTGTGTCCCCGTGGCCA GGCTGGTGTTGAACTCCTGGGCTCAAGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0033 a0001c0001t0005g0033	1	105	0.0095	387	c.271 others(406): Show c.271+26235_271+26236insACACACACACACTTGAGCCCAGGAGT TCAACACCAGCCTGGCCACGGGGACACACACATACATACACACACACACA CACACACACACACACACACACACTTGAGCCCAGGAGTTCAACACCAGCCT GGACATGGGGACACACACACACACACACACACACACACACACGAGCCCAG GAGTTCAACACCAGCCTGGACACAGGGACACACACACACACTTGAGCCCA GGAGTTCAACACCAGCCTGGACACGGGGACACACACACACACACACTTGA GCCCAGGAGTTCAACACCAGCCTGGATACGGGGACACACACACACACTTG AGCCCAGGAGTTCACCAGCCTGGACACAGGGACACACACACACACACACA CACACACACAC	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A6_chr15_34224784_34342781	34310174	A A	AGTGTGTG others(380): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCCCTGTGTCCAGGCTGGTG AACTCCTGGGCTCAAGTGTGTGTGTGTGTCCCCGTATCCAGGCTGGTGTT GAACTCCTGGGCTCAAGTGTGTGTGTGTGTGTGTCCCCGTGTCCAGGCTG GTGTTGAACTCCTGGGCTCAAGTGTGTGTGTGTGTCCCTGTGTCCAGGCT GGTGTTGAACTCCTGGGCTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTCCCCATGTCCAGGCTGGTGTTGAACTCCTGGGCTCAAGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATGTGTGTGTCCCCGTG GCCAGGCTGGTGTTGAACTCCTGGGCTCAAGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0034 a0001c0001t0005g0034	1	105	0.0095	387	c.271 others(406): Show c.271+26235_271+26236insACACACACTTGAGCCCAGGAGTTCAA CACCAGCCTGGCCACGGGGACACACACATACATACACACACACACACACA CACACACACACACACACACACACTTGAGCCCAGGAGTTCAACACCAGCCT GGACATGGGGACACACACACACACACACACACACACACACACGAGCCCAG GAGTTCAACACCAGCCTGGACACAGGGACACACACACACACTTGAGCCCA GGAGTTCAACACCAGCCTGGACACGGGGACACACACACACACACACTTGA GCCCAGGAGTTCAACACCAGCCTGGATACGGGGACACACACACACACTTG AGCCCAGGAGTTCACCAGCCTGGACACAGGGACACACACACACACACACA CACACACACAC	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC22A18_chr11_2897278_2930246	2921552	A A	AAGCCTGT others(380): Show AAGCCTGTCCCACCGAGTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTG TCCCACCGAGCCCATCCCAGGGAGCAGCCTGCGGCCAAGCCTGTCCCACC GAGTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCA TCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGG GAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGC CTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGC CGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCT GTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	81	0.0123	387	c.865 others(402): Show c.865-534_865-533insTCCATCCCCGGGAGCAGCCTGCGGCCGAGC CTGTCCCACCGAGCCCATCCCAGGGAGCAGCCTGCGGCCAAGCCTGTCCC ACCGAGTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGC CCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCC CGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGC AGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGC GGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAG CCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCC CACCGAG	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC24A3_chr20_19207642_19727926	19663437	C C	CTCCTCCA others(380): Show CTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCC TCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCT CCTCCACCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCAC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCA CCTCCTCCTCCACCTCCACCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp1 HG02818.hp2 others(1): Show HG01891.hp2 HG02630.hp1 HG02818.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0005 a0001c0004 a0002c0005	a0001c0004t0001 a0002c0005t0001 a0001c0004t0001 a0002c0005t0001	a0001c0004t0001g0084 a0001c0004t0001g0093 a0001c0004t0001g0105 others(1): Show a0001c0004t0001g0084 a0001c0004t0001g0093 a0001c0004t0001g0105 a0002c0005t0001g0092	4	92	0.0435	387	c.688 others(404): Show c.688-2426_688-2425insCCTCCACTTCCTCCTCCACCTCCTCCTC TACCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCC TCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTC CTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCT CCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC TCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCACCTCCT CCTCCACTT	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC24A3_chr20_19207642_19727926	19663437	C C	CTCCTCCA others(380): Show CTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCC TCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTC CACCTCCTCCTCCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCA CCTCCTCCTCCACCTCCACCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0130 a0002c0002t0001g0130	1	89	0.0112	387	c.688 others(404): Show c.688-2426_688-2425insCCTCCACTTCCTCCTCCACCTCCTCCTC TACCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCC TCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCT CCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCC TCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCACCTCCT CCTCCACTT	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTGTATAT others(380): Show GTGTATATATATACACATAGTATATATATTCTACGTATATATATACACAT AGTATATATATTCTACGTATATATATACACATAGTATATATATTCTACGT ATATATATACACATAGTATATATATTCTACGTATATATATACACACGTAG TATATATATTCTATGTGTATATATATACACATAGTATATATATTCTACGT GTGTATATATATACACATAGTATATATATTCTACGTGTATGTATACACAT ATATACATAGAATATATATACTATGTGTATATATATACACGTAGAATATA TATACTATGTGTATATATACGTAGAATATATATACTATGTGTATATATAC GTAGAATATATATACTATGTGTATATATATACGTAGAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	52	0.0192	387	c.174 others(406): Show c.174-83380_174-83379insGTATATATATACACATAGTATATATA TTCTACGTATATATATACACATAGTATATATATTCTACGTATATATATAC ACATAGTATATATATTCTACGTATATATATACACATAGTATATATATTCT ACGTATATATATACACACGTAGTATATATATTCTATGTGTATATATATAC ACATAGTATATATATTCTACGTGTGTATATATATACACATAGTATATATA TTCTACGTGTATGTATACACATATATACATAGAATATATATACTATGTGT ATATATATACACGTAGAATATATATACTATGTGTATATATACGTAGAATA TATATACTATGTGTATATATACGTAGAATATATATACTATGTGTATATAT ATACGTAGAAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC45A4_chr8_141202174_141313288	141203228	G G	GGAAAGAG others(380): Show GGAAAGAGAGGGAGAGGGAGACCGTGGAGAGAGGGAGAGGGGAGAGGGAG AGGGAGACCGTGGAGAGAGGGAGAGGGGAGAGGGAGACCGTGGAGAGAGA GAGAGGGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAGAG GGAGACCGTGGAGAGAGAGAGAGAGAGGGAGAGGGAGAGAGAGGGAGAGA GGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACCGTGGAGTAGGAGAG AGAGAGAGAGAGAGAGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGGGAGAGAGGGGAGAGAGAGAGAGAGGGAGAG AGAGACCGTGGAGAGAGGGAGAGGGGAGACCGTGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0013 a0002c0001t0013	a0002c0001t0013g0135 a0002c0001t0013g0135	1	126	0.0079	387	c.83 others(398): Show c.8343_*8344insTCTCCACGGTCTCCCCTCTCCCTCTCTCCACGGT CTCTCTCTCCCTCTCTCTCTCTCTCCCCTCTCTCCCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCCACGGTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCCTACTCCACGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCCCTCTCTCCCTCTCTCTCCCTCTCCCTCTCTCTCTCTCTCTCCACGGT CTCCCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCCC TCTCTCTCTCTCCACGGTCTCCCTCTCCCCTCTCCCTCTCTCCACGGTCT CCCTCTCCCTCTCCCCTCTCCCTCTCTCCACGGTCTCCCTCTCCCTCTCT TTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3945		chr8	TogoVar
SNTG2_chr2_945849_1372613	965130	A A	ACCCCAAT others(380): Show ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCC TCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGA CCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0075 a0003c0007t0002g0075	1	176	0.0057	387	c.72+ others(404): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATC CTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGT CCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCC TCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCC CAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCC TGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGT CCTCCTCCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24189683	T T	TATATATA others(380): Show TATATATAATATGTAATATATTATATATATTTATATATAATATGTAATAT ATTATATATATTTATATATATAATATGTAATATATTATATATATTTATAT ATATAATATGTAATATATTATATATATTTATATATATAATATGTAATATA TTATATATATTTATATATATAATATGTAATATATTATATATATTTATATA TATAATATGTAATATATTATATATATTTATATATATAATATGTAATATAT TATATATATTTATATATATAATATGTAATATATTATATATATTTATATAT ATAATATGTAATATATTATATATATTTATATATATAATATGTAATATATT ATATATATTTATATATAATATGTAATATATATAAAAGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0083 a0002c0007t0083	a0002c0007t0083g0147 a0002c0007t0083g0147	1	311	0.0032	387	c.-11 others(408): Show c.-112+28762_-112+28763insGTAATATATTATATATATTTATAT ATAATATGTAATATATTATATATATTTATATATATAATATGTAATATATT ATATATATTTATATATATAATATGTAATATATTATATATATTTATATATA TAATATGTAATATATTATATATATTTATATATATAATATGTAATATATTA TATATATTTATATATATAATATGTAATATATTATATATATTTATATATAT AATATGTAATATATTATATATATTTATATATATAATATGTAATATATTAT ATATATTTATATATATAATATGTAATATATTATATATATTTATATATATA ATATGTAATATATTATATATATTTATATATAATATGTAATATATATAAAA GCATATATAATAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SRXN1_chr20_641615_658200	641971	G G	GGGGGGGG others(380): Show GGGGGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGTGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGT TGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	400	0.0025	387	c.67 others(398): Show c.6742_*6743insAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCA GGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGG GCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCACCAGGCAACTCCACCCCCGCTGG GCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCCCCC CCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4643		chr20	TogoVar
SRXN1_chr20_641615_658200	641971	G G	GGGGGGGG others(380): Show GGGGGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGTGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGT TGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 NA19056.hp2 HG03688.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0004 a0001c0001t0003g0003 a0001c0001t0002g0004 a0001c0001t0003g0003	2	401	0.0050	387	c.67 others(398): Show c.6742_*6743insAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCA GGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGG GCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCACCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCCCCC CCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4643		chr20	TogoVar
SRXN1_chr20_641615_658200	641971	G G	GGGGGGGG others(380): Show GGGGGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGTGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGT TGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 NA18942.hp2 HG00544.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0002 a0001c0001t0023g0099 a0001c0001t0001g0002 a0001c0001t0023g0099	2	401	0.0050	387	c.67 others(398): Show c.6742_*6743insAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCA GGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGG GCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCACCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCCCCC CCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4643		chr20	TogoVar
SRXN1_chr20_641615_658200	641971	G G	GGGGGGGG others(380): Show GGGGGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGTGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGT TGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0126	1	400	0.0025	387	c.67 others(398): Show c.6742_*6743insAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCA GGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGCTG GGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCACCAGGCAACTCCACCCCCGCTGG GCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCCCCC CCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4643		chr20	TogoVar
SRXN1_chr20_641615_658200	641971	G G	GGGGGGGG others(380): Show GGGGGGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGTGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGT TGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	400	0.0025	387	c.67 others(398): Show c.6742_*6743insAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCA GGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGG GCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCACCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCCCCCC CCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4643		chr20	TogoVar
ST6GALNAC6_chr9_127880321_127904603	127882566	G G	GGAAAGGA others(380): Show GGAAAGGAAAGAAGGGAAAGGAAGGGAAGGGAAGCGGGGGGAGGGGAGGA GAGGGGAGGGAAGGGGAGAGGGGGAGGGGAAGAAGGGGAGGGGAAGAAGG GGAAGGGAAGAAGGGAAGAAGGGAAGGGAAGAGGGAAGGGAAGAGGGGAA GGGAACAAGGGAAGGAAAGAAGGGAAGGGAAGAAGGGAAGGGAAGGAAAG GGAAGGGAAGAGGGCGAGGGAAGGGAAGGAAAGAGGGGGAGGGAAGGGGG AAGAGAGGGAGGGAAGAGGGGAAGGGAAAAAAAGGAAGAGAAGAAGGGAA GGGAAGAAGGAAAGAAGGGAAGGGAAGAAAGGAAGGGAAGAAGGGAAGGG AAGGAGGGAAGGGAAGGGAAGAAAGGAAGGGAAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	14	0.0714	387	c.40 others(398): Show c.4032_*4033insTTCTCTTCCCTTCCTTTCTTCCCTTCCCTTCCCT CCTTCCCTTCCCTTCTTCCCTTCCTTTCTTCCCTTCCCTTCTTTCCTTCT TCCCTTCCCTTCTTCTCTTCCTTTTTTTCCCTTCCCCTCTTCCCTCCCTC TCTTCCCCCTTCCCTCCCCCTCTTTCCTTCCCTTCCCTCGCCCTCTTCCC TTCCCTTTCCTTCCCTTCCCTTCTTCCCTTCCCTTCTTTCCTTCCCTTGT TCCCTTCCCCTCTTCCCTTCCCTCTTCCCTTCCCTTCTTCCCTTCTTCCC TTCCCCTTCTTCCCCTCCCCTTCTTCCCCTCCCCCTCTCCCCTTCCCTCC CCTCTCCTCCCCTCCCCCCGCTTCCCTTCCCTTCCTTTCCCTTCTTTCCT TTC	ST6GALNAC6	ENSG00000160408.16	transcript	ENST00000373146.6	protein_coding		2754		chr9	TogoVar
STK38L_chr12_27239286_27330959	27241748	A A	ATATATAT others(380): Show ATATATATTACATATATGACTCTGTGTAGTTATATATATTACATATATGA CTCTGTGTAGTTATATATATTACATATATGACTCTGTGTAGTTATATATT ACATATATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTAGT TATATATTACATATATGACTCTGTGTAGTTATATATATTACATATATGAC TCTGTGTAGTTATATATTACATATATGACTCTGTGTAGTTATATATATTA CATATATGACTATGTATAGTTATATATATTACATATATGACTATGTATAG TTATATATATTACATATATGACTATGTATAGTTATATATATTACATATAT GACTATGTATAGTTATATATATTACATATATGACTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	350	0.0029	387	c.-25 others(398): Show c.-2596_-2595insTATATATTACATATATGACTCTGTGTAGTTATAT ATATTACATATATGACTCTGTGTAGTTATATATATTACATATATGACTCT GTGTAGTTATATATTACATATATGACTCTGTGTAGTTATATATTACATAT ATGACTCTGTGTAGTTATATATTACATATATGACTCTGTGTAGTTATATA TATTACATATATGACTCTGTGTAGTTATATATTACATATATGACTCTGTG TAGTTATATATATTACATATATGACTATGTATAGTTATATATATTACATA TATGACTATGTATAGTTATATATATTACATATATGACTATGTATAGTTAT ATATATTACATATATGACTATGTATAGTTATATATATTACATATATGACT ATG	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		2537		chr12	TogoVar
TAFA5_chr22_48484553_48756932	48641037	C C	CCTGAAGC others(380): Show CCTGAAGCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGA ACAGTGGGGGGCTGTTGGTGGGGTCTGCCCTACGGGACAGCTTCTGTCTG AAGCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAG TGGGGGGCTGTTGGTGGGGGTCTGCCCTATGGGACAACTTCTGTCTGAAG CTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGG GGGGCTGTTGGTGGGGGTCTGCCCTACGGGACAGCTTCTGCCTGAAGCTG AGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGG GCTGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGT	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18952.hp1 NA18979.hp2 others(3): Show HG00673.hp1 NA18952.hp1 NA18979.hp2 NA18994.hp1 NA18995.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0038 a0001c0001t0001g0073 a0001c0001t0001g0127 others(3): Show a0001c0001t0001g0038 a0001c0001t0001g0073 a0001c0001t0001g0127 a0001c0001t0001g0185 a0001c0001t0001g0256 a0001c0001t0002g0123	6	75	0.0800	387	c.113 others(404): Show c.113-5488_113-5487insTCTGCCCTACGGGACAGCTTCTGTCTGA AGCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGT GGGGGGCTGTTGGTGGGGGTCTGCCCTATGGGACAACTTCTGTCTGAAGC TGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGG GGGCTGTTGGTGGGGGTCTGCCCTACGGGACAGCTTCTGCCTGAAGCTGA GACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGG CTGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGTCTGAAGCTGAGAC CGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTG TTGGTGGGG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(380): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCT CCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCT CCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCC CCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCC CCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCC CCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	165	0.0061	387	c.186 others(404): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCC TCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCC CTCCCCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(380): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCT CCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCC CTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCC CCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	165	0.0061	387	c.186 others(404): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCT CTCCCCTCCCCCCTCCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCC CTCCCCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(380): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCT CCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCC CTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCC CGTCCCCTCCTCTCCCCCTCCCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0199 a0001c0001t0021g0199	1	165	0.0061	387	c.186 others(404): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCT CTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCCTCCCCCCTCCCCC CTCCCCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(380): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCT CCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCC CTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCC CGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	165	0.0061	387	c.186 others(404): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCT CTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCC TCCCCCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(380): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCTCCCT TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCTC CCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCC CCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCC TCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCC GTCCCCTCCTCTCCCCCTCCCCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	165	0.0061	387	c.186 others(404): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC CTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTC TCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCCTCCCCCCCTCCCCC CTCCCCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TERT_chr5_1248167_1300068	1273788	C C	CCGCCATC others(380): Show CCGCCATCCACAGTCACCACATCAGACCCCACGACCACCATCCACAGTCA CCACACATCAGACCCCACAACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACC GCCATCCACAGTCACCACACATCAGACCCCCACAACCGCCATCCACAGTC ACCACACATCAGACCCCACAACCGCCATCCACAGTCACCACACATCAGAC CCTACGACCGCCATCCACAGTCACCACATCAGGCCCCA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	98	0.0102	387	c.228 others(406): Show c.2287-1509_2287-1508insTGGGGCCTGATGTGGTGACTGTGGAT GGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGA TGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGG TCTGATGTGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGGTGAC TGTGGATGGCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TEX29_chr13_111315642_111349248	111340186	A A	ATGTTTAG others(380): Show ATGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTA GTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCA CCTGTGCTTGTTGATGAAAATCATAACCCCTGTTTAGTGAGCACCTGTGC TTGTTGATGAAAATCATAACCCCTGTTTAGTGAGCACCTGTGCTTGTTGA TGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAAT CATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACC CGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTT AGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02258.hp2 others(8): Show HG01884.hp2 HG02055.hp2 HG02258.hp2 HG02559.hp2 HG02970.hp1 HG03139.hp1 HG03540.hp1 NA18522.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0004 a0001c0001t0008 a0001c0002t0004	a0001c0001t0008g0029 a0001c0001t0008g0076 a0001c0002t0004g0016 others(4): Show a0001c0001t0008g0029 a0001c0001t0008g0076 a0001c0002t0004g0016 a0001c0002t0004g0034 a0001c0002t0004g0138 a0001c0002t0004g0139 a0001c0002t0004g0140	11	386	0.0285	387	c.239 others(402): Show c.239+296_239+297insGTGTTTAGTGAGCACCTGTGCTTGTTGATG AAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCA TAACCCCTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCC TGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAG TGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCAC CTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCT TGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGAT GAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATC ATAACCC	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX29_chr13_111315642_111349248	111341089	C C	CTGTTTAG others(380): Show CTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTA GTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCA CCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGC TTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGA TGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACAT CATAACCCATGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACC CGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTT AGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	329	0.0030	387	c.239 others(404): Show c.239+1274_239+1275insAATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA ACATCATAACCCATGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCAT AACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGT GTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGT GAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACC TGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTT GTTGATGAA	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX29_chr13_111315642_111349248	111341250	C C	CATCATAA others(380): Show CATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATA ACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTG TTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTG AGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA AAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCAT AACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01192.hp2 HG03239.hp2 others(7): Show HG01071.hp2 HG01192.hp2 HG03239.hp2 HG03688.hp2 NA18968.hp2 NA18970.hp2 NA18981.hp2 NA18994.hp2 NA19010.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0092 a0001c0001t0001g0113 a0001c0001t0001g0114 others(4): Show a0001c0001t0001g0092 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0002g0191 a0001c0002t0001g0011 a0001c0002t0001g0098	10	373	0.0268	387	c.240 others(404): Show c.240-1410_240-1409insGTGTTTAGTGAGCACCTGTGCTTGTTGA TGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACAT CATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACC CGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTT AGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGC ACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTG CTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTG ATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACA TCATAACCC	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX29_chr13_111315642_111349248	111341508	A A	AATCATAA others(380): Show AATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATA ACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTG TTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTG AGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAACATCATTACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA AAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCAT AACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03041.hp2 HG02559.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0140 a0001c0002t0004g0141 a0001c0002t0004g0140 a0001c0002t0004g0141	2	390	0.0051	387	c.240 others(404): Show c.240-1077_240-1076insCATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAACATCATTACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA AAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCAT AACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGT GTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGT GAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACC TGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTT GTTGATGAA	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX29_chr13_111315642_111349248	111341508	A A	AATCATAA others(380): Show AATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATA ACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTG TTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTG AGCACCTGTGCTTGTTGATGAACATCATAACCTGTGTTTAGTGAGCACCT GTGCTTGTTGATGAACATCATTACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA AAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCAT AACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	389	0.0026	387	c.240 others(404): Show c.240-1077_240-1076insCATCATAACCTGTGTTTAGTGAGCACCT GTGCTTGTTGATGAACATCATTACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA AAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCAT AACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGT GTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGT GAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACC TGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTT GTTGATGAA	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
THEG_chr19_356747_381026	376879	C C	CCCCCACC others(380): Show CCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCC CCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0003 a0003	a0003c0025 a0003c0025	a0003c0025t0001 a0003c0025t0001	a0003c0025t0001g0190 a0003c0025t0001g0190	1	325	0.0031	387	c.-91 others(396): Show c.-910_-909insCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGG GAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG GGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG G	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		854		chr19	TogoVar
THOP1_chr19_2780503_2820807	2811894	C C	CCTGAACG others(380): Show CCTGAACGGCAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCCTGAAT GGCAAGGTACGCGGGGACCGGGGACAGGGAGGGCGTCCTGAATGGCAAGG TACGCGGGGACCGGGGACAGGGAGGGCGTCCTGAATGGCAAGGTACGCGG GGACCGGGGACAGGGAGGGCGTCCTGAATGGCAAGGTACGCGGGGACCGG GGACAGGGAGGGCGTCCTGAACGGCAAGGTACGCGGGGACTGGGGACAGG GAGGGCGTCCTGAATGGCAAGGTACGCGGGGACTGGGGACAGGGAGGGCG TCCTGAACGGCAAGGTACGCGGGGACCGGGGACAGGGAGGGCGTCCTGAA TGGCAAGGTACGCGGGGACCGGGGACAGGGAGGGTGTT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	234	0.0043	387	c.190 others(404): Show c.1908+162_1908+163insGAACGGCAAGGTACGCGGGGACTGGGGA CAGGGAGGGCGTCCTGAATGGCAAGGTACGCGGGGACCGGGGACAGGGAG GGCGTCCTGAATGGCAAGGTACGCGGGGACCGGGGACAGGGAGGGCGTCC TGAATGGCAAGGTACGCGGGGACCGGGGACAGGGAGGGCGTCCTGAATGG CAAGGTACGCGGGGACCGGGGACAGGGAGGGCGTCCTGAACGGCAAGGTA CGCGGGGACTGGGGACAGGGAGGGCGTCCTGAATGGCAAGGTACGCGGGG ACTGGGGACAGGGAGGGCGTCCTGAACGGCAAGGTACGCGGGGACCGGGG ACAGGGAGGGCGTCCTGAATGGCAAGGTACGCGGGGACCGGGGACAGGGA GGGTGTTCT	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
THOP1_chr19_2780503_2820807	2811894	C C	CCTGAATG others(380): Show CCTGAATGGCAAGGTACGCGGGGACCGGGGACAGGGAGGGCGTCCTGAAC GGCAAGGTACGCGGGGACTGGGGACAGGGAGGGCGTCCTGAATGGCAAGG TACGCGGGGACCGGGGACAGGGAGGGCGTCCTGAACGGCAAGGTACGCGG GGACCGGGGACAGGGAGGGCGTCCTGAATGGCAAGGTACGCGGGGACCGG GGACAGGGAGGGCGTCCTGAACGGCAAGGTACGCGGGGACTGGGGACAGG GAGGGCGTCCTGAATGGCAAGGTACGCGGGGACTGGGGACAGGGAGGGCG TCCTGAACGGCAAGGTACGCGGGGACCGGGGACAGGGAGGGCGTCCTGAA TGGCAAGGTACGCGGGGACCGGGGACAGGGAGGGTGTT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	234	0.0043	387	c.190 others(404): Show c.1908+162_1908+163insGAATGGCAAGGTACGCGGGGACCGGGGA CAGGGAGGGCGTCCTGAACGGCAAGGTACGCGGGGACTGGGGACAGGGAG GGCGTCCTGAATGGCAAGGTACGCGGGGACCGGGGACAGGGAGGGCGTCC TGAACGGCAAGGTACGCGGGGACCGGGGACAGGGAGGGCGTCCTGAATGG CAAGGTACGCGGGGACCGGGGACAGGGAGGGCGTCCTGAACGGCAAGGTA CGCGGGGACTGGGGACAGGGAGGGCGTCCTGAATGGCAAGGTACGCGGGG ACTGGGGACAGGGAGGGCGTCCTGAACGGCAAGGTACGCGGGGACCGGGG ACAGGGAGGGCGTCCTGAATGGCAAGGTACGCGGGGACCGGGGACAGGGA GGGTGTTCT	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr19	TogoVar

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