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
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(489): Show TTCTATATATATAAATATATATATATTTCTATATATATAAATATATATAT TTATATATATAGAAATATATATATATTTATATATATATAAATATATATAT TTATATATATATATATATATATATTTATATATATATAAATATATATATAT TTCTATATATATATAAATATATATATATTTCTATATATATATAAATATAT ATATATTTCTATATATATATAAATATATATATATTTCTATATATATAAAT ATATATATATATAAATATATATATAAATATATATTTATATATATATAAAT ATATATATATAAATATATATAAATATATATATATTTATATATATAAATAT ATATATATTTATATATATAAATAAATATATATTTATATATATAAATAAAT ATATATTTATATATATAAATATATATATTTTTATATATATAAATATATAT ATTTTTATATATATAAATATATATATTTTTATATATATAAATATATA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	59	0.0169	496	c.532 others(511): Show c.532+446_532+447insTATATATTTATATATATAAAAATATATATA TTTATATATATAAAAATATATATATTTATATATATAAAAATATATATATT TATATATATAAATATATATTTATTTATATATATAAATATATATTTATTTA TATATATAAATATATATATATTTATATATATAAATATATATATATTTATA TATATTTATATATATATATTTATATATATATAAATATATATTTATATATA TATTTATATATATATATATTTATATATATAGAAATATATATATATTTATA TATATATAGAAATATATATATATTTATATATATATAGAAATATATATATA TTTATATATATATAGAAATATATATATATTTATATATATATAAATATATA TATATATATATATATAAATATATATATTTATATATATATAAATATATATA TATTTCTATATATATAAATATATATATTTATATATATAGAAATATATATA TATTTATATATATAGA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ABR_chr17_998519_1184981	1173152	C C	CCAACACA others(490): Show CCAACACATCACCTCAGTCAACGCAACACATCACCTCAGTCCACTCAACA CATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCAC CTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTCA GTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGT CCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGC CCACCCAACACATCACCTCAGCCCACCCAACACGTCACCTCAGCCCACCC AACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGCC CCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAG CCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGCCCA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0261 a0001c0001t0010g0261	1	335	0.0030	497	c.61+ others(512): Show c.61+6514_61+6515insTGGGCTGAGGTGATGTGTTGGGTGGACTGA GGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGAT GGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTG GGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGGTGGGCTGAG GTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGT GATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTT GGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGCGTTG ACTGAGGTGATGTGTTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(490): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGA TGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGG AAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAG GGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGA TGGGAGGGAGGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGA AAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0046 a0003c0015t0046	a0003c0015t0046g0065 a0003c0015t0046g0065	1	25	0.0400	497	c.259 others(518): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCCTCCCTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCT CCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCC CTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTC CTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCT CCCATCCCTCCCTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCC TCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTC CTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCCCCTCCCTCCCTCC CATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
AK3_chr9_4704556_4746202	4714097	C C	CACACCTC others(490): Show CACACCTCCACATATACACACCTACACATACGCCTACACATATATGCCTA CACATATACGCCTACACATATACGCCTACACATATACGCCTACACATATA CACCTCCACATATACACACCTCCACATATACACACCTCCACATATACACA CCTCCACATATATGCCTACACATATACGCCTACACATATACGCCTACACA TATACACACCTCCACATATACACACCTCCACAACTCCACATATACACACC TCCACATATACACACCTACACATATACGCCTACACATATACGCCTACACA TATACGCCTACACATATACACACCTCCACATATACACACCTCCACATATA CGCCTACACATATACGCCTACACATATACACACCTCCACATATACACACC TCCACATATACGCCTACACATATACGCCTACACATATACGCCTACACATA TACGCCTACACATATACACACCTCCACATATACACACCTCCACATAAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp1 HG02818.hp1 others(3): Show HG02257.hp1 HG02280.hp1 HG02818.hp1 HG03130.hp2 HG03139.hp2 NA18906.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0003 a0005c0004t0003 a0001c0001t0003 a0005c0004t0003	a0001c0001t0003g0034 a0001c0001t0003g0105 a0001c0001t0003g0122 others(3): Show a0001c0001t0003g0034 a0001c0001t0003g0105 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0195 a0005c0004t0003g0032	6	450	0.0133	497	c.564 others(514): Show c.564-1002_564-1001insATTATGTGGAGGTGTGTATATGTGGAGG TGTGTATATGTGTAGGCGTATATGTGTAGGCGTATATGTGTAGGCGTATA TGTGTAGGCGTATATGTGGAGGTGTGTATATGTGGAGGTGTGTATATGTG TAGGCGTATATGTGTAGGCGTATATGTGGAGGTGTGTATATGTGGAGGTG TGTATATGTGTAGGCGTATATGTGTAGGCGTATATGTGTAGGCGTATATG TGTAGGTGTGTATATGTGGAGGTGTGTATATGTGGAGTTGTGGAGGTGTG TATATGTGGAGGTGTGTATATGTGTAGGCGTATATGTGTAGGCGTATATG TGTAGGCATATATGTGGAGGTGTGTATATGTGGAGGTGTGTATATGTGGA GGTGTGTATATGTGGAGGTGTATATGTGTAGGCGTATATGTGTAGGCGTA TATGTGTAGGCGTATATGTGTAGGCATATATGTGTAGGCGTATGTGTAGG TGTGTATATGTGGAGGTGT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	4/4			chr9	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(490): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGGAGGA GGGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGA AGGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGG AGGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGGAGGGGGAGGGGGGGAGG AGGAGGGGGGGGGGAGGAGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGG AGGAGGGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGGGGGA GGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGAGGGGGAGGAGGAGGAG GGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGG AGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0185 a0001c0001t0040g0185	1	183	0.0055	497	c.125 others(518): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCCTCCTCC CCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCC CTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCCTCCTCCCCCCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCC CCCCCCTCCTCCCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCCTCC TCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCT CCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCC TCCTCCCCCTCCTCCACCTCCCCCTCCTCCTCCTTCCCCTCTTCACCTTC TCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGCGAGCA others(490): Show GGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCC ACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACA CACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGC ACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCGT GACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTAGCG GTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCAC CCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACAC TAGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACT TCCCACCCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCTGTGA CCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	146	0.0068	497	c.-18 others(508): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCACTGTAAATGTGTGG TCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGA AGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAG TGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGG TGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCC GCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTC ACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGT GCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGT GTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGT GGGAAGTGCTCGC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825085	T T	TCCCCCCG others(490): Show TCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACC CCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCG CACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGT CCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCTACAC CCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0105 a0001c0105	a0001c0105t0021 a0001c0105t0021	a0001c0105t0021g0360 a0001c0105t0021g0360	1	352	0.0028	497	c.-48 others(512): Show c.-48+997_-48+998insGCACCCCACCTGTCCCCCTGCACCCCACCT GTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGC ACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCC CACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCTACACCCCACC TGTTCACCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCCGC ACCCCACCTGTCCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825136	C C	CCACCTGT others(490): Show CCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCTGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCG CACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCAC CCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCC CCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCTGCACCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00423.hp1 HG00544.hp1	a0002 a0002	a0002c0054 a0002c0054	a0002c0054t0002 a0002c0054t0002	a0002c0054t0002g0022 a0002c0054t0002g0023 a0002c0054t0002g0022 a0002c0054t0002g0023	2	322	0.0062	497	c.-48 others(514): Show c.-48+1030_-48+1031insTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCG CACCCCACCTGTCCCCCTGCACCCCACCTGTCCCCTCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCC CACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCC CGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACC TGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGC ACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTC CCCCCTGCACCTCACCTGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825136	C C	CCACCTGT others(490): Show CCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCG CACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCAC CCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCC CCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCTGCACCT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0076 a0002c0076	a0002c0076t0030 a0002c0076t0030	a0002c0076t0030g0091 a0002c0076t0030g0091	1	321	0.0031	497	c.-48 others(514): Show c.-48+1030_-48+1031insTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCG CACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCC CGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACC TGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGC ACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTC CCCCCTGCACCTCACCTGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825136	C C	CCACCTGT others(490): Show CCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCC CCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCG CACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCAC CCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCC CCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCTGCACCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01123.hp2 HG01516.hp2 others(14): Show HG01106.hp1 HG01123.hp2 HG01516.hp2 HG01517.hp1 HG02015.hp1 HG02165.hp2 HG02451.hp1 HG02559.hp2 HG02976.hp1 HG03453.hp2 HG03491.hp2 HG06807.hp2 NA18906.hp2 NA18945.hp2 NA18983.hp1 NA18990.hp2 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0012 a0001c0023 a0001c0042 a0001c0043 a0001c0052 a0001c0102 a0001c0104 a0001c0135 a0001c0145 a0005c0088	a0001c0001t0003 a0001c0002t0006 a0001c0003t0008 others(12): Show a0001c0001t0003 a0001c0002t0006 a0001c0003t0008 a0001c0008t0002 a0001c0008t0010 a0001c0012t0006 a0001c0023t0012 a0001c0042t0043 a0001c0043t0002 a0001c0052t0031 a0001c0102t0012 a0001c0104t0002 a0001c0135t0006 a0001c0145t0032 a0005c0088t0006	a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0002t0006g0096 others(14): Show a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0002t0006g0096 a0001c0003t0008g0117 a0001c0008t0002g0099 a0001c0008t0002g0107 a0001c0008t0010g0104 a0001c0012t0006g0114 a0001c0023t0012g0116 a0001c0042t0043g0105 a0001c0043t0002g0106 a0001c0052t0031g0093 a0001c0102t0012g0119 a0001c0104t0002g0111 a0001c0135t0006g0088 a0001c0145t0032g0092 a0005c0088t0006g0018	17	337	0.0504	497	c.-48 others(514): Show c.-48+1030_-48+1031insTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCG CACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCC CACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCC CGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACC TGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGC ACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTC CCCCCTGCACCTCACCTGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
B3GNTL1_chr17_82937149_83056770	82972018	T T	TAGAAGGA others(490): Show TAGAAGGACCTGGTGCCGACACACCACACCACAGGGGCCAGAAGGACCTG GTGCCGACCACACCACACCACGGGCCAGAAGGACCTGGAGCCGACACACC ACACCAGGGGCCAGAAGGACCTGGTGCCCACCACACCACACCACAGGGGC CAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCTAGAAGGACCT GGTGCCGACCACACCACACCATGGGCCAGAAGGACCTGGTGCCGACCACA CCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAG GGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAGAAGG ACCTGGTGCCGGCCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCG ACCACACCACACCACGGGCCAGAAGGACCTGGAGCCGACCACACCACACC ACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01934.hp1 HG03239.hp2 HG00733.hp2 HG01934.hp1 HG03239.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0009 a0001c0002 a0002c0009	a0001c0002t0002 a0002c0009t0003 a0001c0002t0002 a0002c0009t0003	a0001c0002t0002g0111 a0001c0002t0002g0113 a0002c0009t0003g0079 a0001c0002t0002g0111 a0001c0002t0002g0113 a0002c0009t0003g0079	3	140	0.0214	497	c.460 others(514): Show c.460-6273_460-6272insGGCCCCTGTGGTGTGGTGTGGTCGGCAC CAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCTCCAGGTCCTTCT GGCCCGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTG TGGTGTGGCCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCA GTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCC TTCTGGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCAT GGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTG GTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTGGGCACCAG GTCCTTCTGGCCCCTGGTGTGGTGTGTCGGCTCCAGGTCCTTCTGGCCCG TGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGT GTCGGCACCAGGTCCTTCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
C2CD4C_chr19_400445_414147	404347	G G	GGGGGGGA others(490): Show GGGGGGGACGGGGCCCTGTCCTGAGGGGTGTGAGGGGGGGGACGGGGCCC TGTCCTGAGGGGTCTGAGGGGGGGACGGGGCCCTGTCCTGAGGGGTGTGA GGGGGAGACGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGTCCTG CCCCGAGGGGTCTGAGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGGGG GGGGGACGGGGCCCTGTCCTGAGGGGTGTGAGGGGGGGGGACGGGGCCCT GTCCTGAGGGGTCTGAGGGGGGGACGGGGCCCTGTCCTGAGGGGTGTGAG GGGGAGACGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGTCCTGC CCCGAGGGGTGTGAGGGGGGGGACGGGGCCCTGTCCTGAGGGGTCTGAGG GGGGGACGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGTCCTGCC CCGAGGGGTGTGAGGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0081 a0001c0001t0035g0081	1	301	0.0033	497	c.27 others(508): Show c.2748_*2749insTCACACCCCTCAGGGCAGGACCCCGTCCCCCCCC CTCACACCCCTCGGGGCAGGACCCCGTCCCCCCCTCACACCCCTCGGGGC AGGACCCGTCCCCCCCTCAGACCCCTCAGGACAGGGCCCCGTCCCCCCCC TCACACCCCTCGGGGCAGGACCCCGTCCCCCCCTCACACCCCTCGGGGCA GGACCCGTCTCCCCCTCACACCCCTCAGGACAGGGCCCCGTCCCCCCCTC AGACCCCTCAGGACAGGGCCCCGTCCCCCCCCCTCACACCCCTCAGGACA GGGCCCCGTCCCCCCCCCACACCCCTCGGGGCAGGACCCCGTCCCCCCCT CAGACCCCTCGGGGCAGGACCCCGTCCCCCCCTCACACCCCTCGGGGCAG GACCCGTCTCCCCCTCACACCCCTCAGGACAGGGCCCCGTCCCCCCCTCA GACCCCTCAGGACAGGGCCCCGTCCCCCCCCTCACACCCCTCAGGACAGG GCCCCGTCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1097		chr19	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(490): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCCGCCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGG CTCATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0258 a0002c0006t0001g0258	1	214	0.0047	497	c.144 others(514): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCC CCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCAGGCGTGGGGCTCATCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(490): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCGGCTGGCCGACCCCCCCCCTCCCCCCGCCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGG CTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03098.hp1 HG02451.hp2 HG03098.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0155 a0006c0008t0001g0156 a0006c0008t0001g0155 a0006c0008t0001g0156	2	215	0.0093	497	c.144 others(514): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCTCCCC CCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(490): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCGGCTGGCCGACCCCCCCCCTCCCCCCGCCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGG CTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02922.hp2 HG02970.hp1 HG02717.hp1 HG02922.hp2 HG02970.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0210 a0006c0010t0001g0211 a0006c0010t0001g0212 a0006c0010t0001g0210 a0006c0010t0001g0211 a0006c0010t0001g0212	3	216	0.0139	497	c.144 others(514): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCTCCCC CCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC GGCTGGCCAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539850	G G	GGCCGGCC others(490): Show GGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCA GCTGGCCGACCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGGCTGATCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0239 a0002c0002t0001g0239	1	248	0.0040	497	c.144 others(514): Show c.144+2282_144+2283insCGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCCGCCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC AGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCAGC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539850	G G	GGCCGGCC others(490): Show GGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCA GCTGGCCGACCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGGCTGATCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01433.hp2 HG02040.hp2 others(12): Show HG00280.hp2 HG01433.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02523.hp1 HG03942.hp1 NA18906.hp1 NA18963.hp1 NA18969.hp1 NA18977.hp1 NA18979.hp1 NA18990.hp2 NA19062.hp1 NA20805.hp1	a0002 a0016 a0002 a0016	a0002c0002 a0016c0019 a0002c0002 a0016c0019	a0002c0002t0001 a0016c0019t0001 a0002c0002t0001 a0016c0019t0001	a0002c0002t0001g0001 a0002c0002t0001g0018 a0002c0002t0001g0220 others(11): Show a0002c0002t0001g0001 a0002c0002t0001g0018 a0002c0002t0001g0220 a0002c0002t0001g0234 a0002c0002t0001g0242 a0002c0002t0001g0245 a0002c0002t0001g0251 a0002c0002t0001g0266 a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0277 a0002c0002t0001g0280 a0002c0002t0001g0292 a0016c0019t0001g0265	15	262	0.0573	497	c.144 others(514): Show c.144+2282_144+2283insCGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCCGCCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC AGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCAGC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539850	G G	GGCCGGCC others(490): Show GGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCA GCTGGCCGACCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGGCTGATCCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0268 a0002c0002t0001g0268	1	248	0.0040	497	c.144 others(514): Show c.144+2282_144+2283insCGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCGCCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCA GGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCAGC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539850	G G	GGCCGGCC others(490): Show GGCCGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGC AGCTGGCCGACCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGGCTGATCCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0254 a0002c0002t0001g0254	1	248	0.0040	497	c.144 others(514): Show c.144+2282_144+2283insCGGCCGGGCGGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCGCCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC AGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCAGC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
CACNA1I_chr22_39565753_39694735	39596230	G G	GGGGGCAG others(490): Show GGGGGCAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGGGAGATGGGGGG CAGGGCGGAGGGAGATGGGGGGCAGGGTGGAGAGAGATGGGGGGGGCAGG GCGGAGAGAGATGGCGGAGAGAGATGGGGGAGCAGGACGGAGGGAGATGG GGGAGCAGGACGGAGGGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGGC AGGGCGGAGAGAGATGGCGGAGAGAGATGGGGGAGCAGGGTGGAGGGAGA TGGGGGGCAGGGCGGAGGGAGATGGGGGAGCAGGGCGGAGAGAGATGGGG GAGCAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGGGAGATGGGGGAGC AGGGTGGAGAGAGATGGGGGAGCAGGGTGGAGGGAGATGGGGGGCAGGGC GGAGGGAGATGGGCAGGGCGGAGGGAGATGGGGGAGCAGGGCGGAGAGAG ATGGGGGAGCAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0172 a0003c0005t0005g0172	1	231	0.0043	497	c.237 others(514): Show c.237-1919_237-1918insGGCAGGGCGGAGAGAGATGGGGGGGCAG GGCGGAGGGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGTGGA GAGAGATGGGGGGGGCAGGGCGGAGAGAGATGGCGGAGAGAGATGGGGGA GCAGGACGGAGGGAGATGGGGGAGCAGGACGGAGGGAGATGGGGGGCAGG GCGGAGGGAGATGGGGGGCAGGGCGGAGAGAGATGGCGGAGAGAGATGGG GGAGCAGGGTGGAGGGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGAGC AGGGCGGAGAGAGATGGGGGAGCAGGGCGGAGAGAGATGGGGGGGCAGGG CGGAGGGAGATGGGGGAGCAGGGTGGAGAGAGATGGGGGAGCAGGGTGGA GGGAGATGGGGGGCAGGGCGGAGGGAGATGGGCAGGGCGGAGGGAGATGG GGGAGCAGGGCGGAGAGAGATGGGGGAGCAGGGCGGAGAGAGATGGGGGG GCAGGGCGGAGAGAGATGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CANT1_chr17_78986716_79014764	79004384	A A	AGGGAGTT others(490): Show AGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGGGGGGAGT TAGGGAGAGGAGTTAAGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAG GGGAGTTAGGGAGGGGGGAGTTAGGGAGAGGGGGGTTAGGGAGAAGGGAG TTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGGGGAGTTAAGGAGA GGGGAGTTAGGGAGGGGAGTTAGGGAGAGGAGTTAAGGAGAGGGGAGTTA GGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGGGGGGAGTTAGGGAGAG GAGTTAAGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAG GGAGGGGGGAGTTAGGGAGAGGAGTTAAGGAGAGGGGAGTTAGGGAGGGG AGTTAGGGAGAGGGGAGTTAGGGAGGGGGGAGTTAGGGAGAGGAGTTAAG GAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	362	0.0028	497	c.-14 others(516): Show c.-147+5279_-147+5280insCCCTCCCTAACTCCCCTCTCCCTAAC TCCCCTCCCTAACTCCCCTCTCCTTAACTCCTCTCCCTAACTCCCCCCTC CCTAACTCCCCTCTCCCTAACTCCCCTCCCTAACTCCCCTCTCCTTAACT CCTCTCCCTAACTCCCCCCTCCCTAACTCCCCTCTCCCTAACTCCCCTCC CTAACTCCCCTCTCCTTAACTCCTCTCCCTAACTCCCCCCTCCCTAACTC CCCTCTCCCTAACTCCCCTCCCTAACTCCCCTCTCCTTAACTCCTCTCCC TAACTCCCCTCCCTAACTCCCCTCTCCTTAACTCCCCTCCCTAACTCCCC TCTCCCTAACTCCCCTCCCTAACTCCCTTCTCCCTAACCCCCCTCTCCCT AACTCCCCCCTCCCTAACTCCCCTCTCCCTAACTCCCCTCCCTAACTCCC CTCTCCTTAACTCCTCTCCCTAACTCCCCCCTCCCTAACTCCCCTCTCCC TAACTCCCCTCCCTAACTCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAPN15_chr16_522712_559636	544780	T T	TCGTCTCC others(490): Show TCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCC CCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC TCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0179 a0001c0008t0001g0179	1	125	0.0080	497	c.-22 others(514): Show c.-22-2036_-22-2035insGTCTCCCCCACGTCGCCTCCCCCCACGT CGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCT CCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTC TCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGT CTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCT CCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCC CCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544791	T T	TCGTCGTC others(490): Show TCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCG CCTCCACCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGT CGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC TCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCT CCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGT CGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0178 a0001c0009t0002g0178	1	391	0.0026	497	c.-22 others(514): Show c.-22-1999_-22-1998insCACGTCGCCTCCCCCCACGTCGCCTCCA CCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTC CCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCC CCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCT CACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGC CTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCT CCCCCACGTCGCCTCCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CARD11_chr7_2901142_3048867	2909378	T T	TGCCCCTC others(490): Show TGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCT CATCCCTCCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCCCACCCC TCGGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCCTCCGCCC CCACCCCTCCGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCC TCCGCCCCCACCCCTCCGCCCCTCACCCCTGCGCCCCTCACCCTCCGCCT CTCACCCCTCCGCCTCCCACCCCTCCGCCCCCCACCCCTCCGCCCCTCAC CCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCTCACCCCTGC GCCCCTCACCCCTCCGCCCCTCACCCCTCCGCCCCCCACCCCTCCGCCCC CCACCCCTCCGCCCCTCACCCTCCGCCTCTCATCCCTCCGCCCCTCACCC CTCCGCCCCTCACCCCTCCACCCCTCACCCTCTGCCTCTCACCCCTGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03195.hp1 HG02055.hp2 HG03195.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0059 a0001c0018t0001g0060 a0001c0018t0001g0059 a0001c0018t0001g0060	2	242	0.0083	497	c.326 others(514): Show c.3260+671_3260+672insGCAGGGGTGAGAGGCAGAGGGTGAGGGG TGGAGGGGTGAGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGAGGCGGAG GGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGAGGGGTGA GGGGCGGAGGGGTGAGGGGCGCAGGGGTGAGGGGCGGAGGGGTGAGGGGC GGAGGGATGAGAGGCGGAGGGTGAGGGGCGGAGGGGTGGGGGGCGGAGGG GTGGGAGGCGGAGGGGTGAGAGGCGGAGGGTGAGGGGCGCAGGGGTGAGG GGCGGAGGGGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGA GGGTGGGGGCGGAGGGGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATGAG AGGCGGAGGGTGGGGGCCGAGGGGTGGGGGGCGGAGGGGTGGGGGCGGAG GGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAGGGGTGGG GGGCGGAGGGGTGAGGGGC	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(490): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGAGGAGACGGGGAGAGGGAGAGGGAGACGGG GAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGAG AGGGAGACGGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGAGAGAG GGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGGGAGAGGGGAGAG GGAGACGGGGAGGAGGGAGACGGGAGACGGGAGAGGGAGGGAGGACGGGG AGAGGGAGAGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGAGGGAGACG GGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACAGGGAGAGGGAGAGGGAGACGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	220	0.0045	497	c.803 others(511): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGAGGGAGACG GGGAGAGGGAGAGGGAGAGGAGACGGGGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGAGAGG GAGACGGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGAGAGAGGGA GAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGGGAGAGGGGAGAGGGA GACGGGGAGGAGGGAGACGGGAGACGGGAGAGGGAGGGAGGACGGGGAGA GGGAGAGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGAGGGAGACGGGG AGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGAGAGG GAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACAGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(490): Show CCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCC CCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0164 a0001c0001t0007g0164	1	12	0.0833	497	c.-45 others(518): Show c.-455+14589_-455+14590insCCCTCCCCTCCCCCCTCCCCTCCC CCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCC TCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(490): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCT CCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCC CCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTC CTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCT TCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCT TCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCT TCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCC CTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCC TCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0038 a0003c0004t0001g0038	1	8	0.1250	497	c.69 others(508): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCC TCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCC CCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTT CCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCT TCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCC TTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCC TCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCC CTCCTCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCC TCCCTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTC CTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP61_chr20_20047532_20365698	20357810	T T	TACTGAGG others(490): Show TACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGG AGGTGGTCACAGTGTGCGGGGAGGTGGTCATACTGAGGGGAGGTGGTCAC ACTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCACACTGTGAGGG GAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGG AGGTGGTGACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAG TGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACATTGAGGAGA GGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAG GTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0219 a0002c0004t0001g0219	1	24	0.0417	497	c.351 others(516): Show c.3514-2359_3514-2358insCTGAGGGGAGGTGGTCACAGTGTGCG GGGAGGTGGTCATACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGT CACACTGAGGAGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGG AGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTGACACTGAGGG GAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCA CACTGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAT AGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGG GAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACA GTGTGAGGGGAGGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(490): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCCTCTTCCTCCTCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCA CTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCT TCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0014 a0003c0008t0014	a0003c0008t0014g0074 a0003c0008t0014g0074	1	2	0.5000	497	c.162 others(518): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCCCCCTCCTCT TCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTC CTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCT CCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(490): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCCTCTTCCTCCTCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCA CTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCT TCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0029 a0001c0001t0045g0029	1	2	0.5000	497	c.162 others(518): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCCCCCTCCTCT TCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTC CTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCT CCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(490): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCCTCTTCCTCCTCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCA CTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCT TCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01943.hp2 HG02004.hp2 others(1): Show HG01361.hp2 HG01943.hp2 HG02004.hp2 NA18992.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0021 a0001c0001t0041 a0001c0001t0096 others(1): Show a0001c0001t0021 a0001c0001t0041 a0001c0001t0096 a0004c0011t0041	a0001c0001t0021g0080 a0001c0001t0041g0056 a0001c0001t0096g0058 others(1): Show a0001c0001t0021g0080 a0001c0001t0041g0056 a0001c0001t0096g0058 a0004c0011t0041g0051	4	5	0.8000	497	c.162 others(518): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCTCCTCCCCCTCCTCT TCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTC CTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCT CCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL23A1_chr5_178232618_178595393	178585576	C C	CACAGCCC others(490): Show CACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGTTGATGCT GGGGGTAACACTCCACGTCCCTGGATGGCGCTGGGGTAACACTCCACAGC CCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGTTGGCGCTGGGGTA ATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGAT GGCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAACACTCC ACAGCCCTGGTTGGCGCTGGGGTAATGCCCTACAGCCCTGGTTGGCGCTG GGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCC TGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAAC ACTCCACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGG CGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02976.hp1 HG02280.hp1 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0142 a0002c0002t0001g0141 a0001c0001t0003g0142 a0002c0002t0001g0141	2	198	0.0101	497	c.294 others(514): Show c.294+4327_294+4328insAGGGCGTTACCCCAGCGCCATCCAGGGC TGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGC GCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGG CGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCC AGGGCTGTAGGGCATTACCCCAGCGCCAACCAGGGCTGTAGGGCATTACC CCAGCGCCAACCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTG TGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGC CATCCAGGGCTGTAGGGCATTACCCCAGCGCCAACCAGGGCTGTGGAGTG TTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCCAG GGACGTGGAGTGTTACCCCCAGCATCAACCAGGGCTGTAGGGCATTACCC CAGCGCCATCCAGGGCTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCCACC others(490): Show CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCGTCCCCTCTTTC TCCTCCCTCCCCCCCACCCTCGGTCCCCTCTTGCCCCTCCCTCCCACCAC CCTGGGTCCCCTCTTGCCCCTCCCTCCCACCACCCCGGGTCCCCTCTTGC CCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCGTC CCCTCTTTCTCCTCCCTCCCCCCACCCTCGGTCCCCTCTTGCCCCTCCCT CCCCCCACCCTCGGTCCCCTCTTGCCCCTCCCTCCCACCACCCTGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	54	0.0185	497	c.101 others(514): Show c.1010-538_1010-537insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCGTCCCCTCTTTCTCCTCCCTCCCCCCCACCCTCGGTCCCCTCTTG CCCCTCCCTCCCACCACCCTGGGTCCCCTCTTGCCCCTCCCTCCCACCAC CCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGC CCCTCCCTCCCCCCGTCCCCTCTTTCTCCTCCCTCCCCCCACCCTCGGTC CCCTCTTGCCCCTCCCTCCCCCCACCCTCGGTCCCCTCTTGCCCCTCCCT CCCACCACCCTGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCACCCCGGGTCCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
DCLK2_chr4_150073445_150262438	150251357	T T	TCCCTCAC others(490): Show TCCCTCACACCCCCCAACACCCCCCACACCACACATCCCTCACACCCCCC ACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACACCC CCACACACCCCACATCCCCACACCCCCCACACACCCCACATCCCCCACAC CACACATCCCTCACACCCCCCAACACCCCCCACACCACACATCCCTCACA CCCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCC ACACCCCCACACACCCCCCACACCACACATCCCCCACACCACACATCCCT CACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACC CCCCACACCCCCACACACCCCACATCCCCCACACCACACATCCCTCACAC CCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCA CACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCACACC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0023 a0001c0003t0002g0023	1	112	0.0089	497	c.207 others(516): Show c.2073+1676_2073+1677insTCACACCCCCCAACACCCCCCACACC ACACATCCCTCACACCCCCCACACCCCCACACACCCCCCACACCACACAT CCCCCACACCCCCCACACCCCCACACACCCCACATCCCCACACCCCCCAC ACACCCCACATCCCCCACACCACACATCCCTCACACCCCCCAACACCCCC CACACCACACATCCCTCACACCCCCCACACCCCCACACACCCCCCACACC ACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACAT CCCCCACACCACACATCCCTCACACCCCCCACACCCCCACACACCCCCCA CACCACACATCCCTCACACCCCCCACACCCCCACACACCCCACATCCCCC ACACCACACATCCCTCACACCCCCCACACCCCCACACACCCCCCACACCA CACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACATC CCTCACACCCCCCACACCCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(490): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	164	0.0061	497	c.-42 others(508): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGG AGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(490): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	279	0.0036	497	c.-42 others(508): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(490): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	279	0.0036	497	c.-42 others(508): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(490): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	279	0.0036	497	c.-42 others(508): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGTGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(490): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	279	0.0036	497	c.-42 others(508): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DECR2_chr16_396885_417482	397726	C C	CGGGGGGT others(490): Show CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	325	0.0031	497	c.-42 others(508): Show c.-4238_-4237insGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGTGGGGGTGGGGGGGGTGAGGG AGTCGGGGGGTGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4158		chr16	TogoVar
DNAH17_chr17_78418697_78582396	78438423	A A	AGGAGGAG others(490): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAG GGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGG GAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGG AGGAGGGAGGAGGGGGAGGGGGAGGAGGGGGAGGAGGGAGGAGGAGGAGG AGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGG AGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGA GGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA GGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAG GAGGGAGGAGGGAGGAGGGAGGAGGAGGAAGGAGGAGGGAGGAGGAGGAG GAGGGAGGAGGGAGGAGGAGGAGGGGGAGGGAGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0050 a0002c0050	a0002c0050t0002 a0002c0050t0002	a0002c0050t0002g0004 a0002c0050t0002g0004	1	241	0.0041	497	c.118 others(516): Show c.11806-556_11806-555insCTCCTCCTCCTCCTCCTCCCTCCCCC TCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTTCCTCCT CCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCT CCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTC CTCCCTCCTCCTTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTC CTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTC CTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCCCTCCT CCCCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTC CTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCC TCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
FBXO34_chr14_55266421_55358611	55332013	A A	AATATATA others(490): Show AATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAA AATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATATATACCACCGTGGTGGTATATATAAAAATAT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	325	0.0031	497	c.-10 others(516): Show c.-10-18356_-10-18355insACCACCGTGGTGTATATATAAAAATA TATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACC GTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAA AAATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACA CCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATA TATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATAT ATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGT GTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATA TATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACC GTGGTGTATATATAAAAATATATATATATATACCACCGTGGTGGTATATA TAAAAATATATATATATATAC	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FHIT_chr3_59742277_61256452	60861204	T T	TATATATG others(490): Show TATATATGATATATATCATATATGATATATATGATATATATCATATATGA TATATATGATATATATCATATATGATATATATGATATATATCATATATGA TATATATGATATATATCATATATGATATATATGATATATATCATATATGA TATATATCATATCATATCATATATGATATATATCATATATGATATATATC ATATATATCATATCATATATGATATATATGATATATATGATATATCATAT CATATCATATATGATATATATGATATATATGATATATCATATCATATCAT ATATGATATATATGATATATATGATATATCATATCATATATGATATATAT GATATATATGATATATCATATCATATATGATATATATGATATATATGATA TATCATATCATATCATATATGATATATATGATATATATGATATATCATAT CATATCATATATGATATATATGATATATATGATATATCATATCATATC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	23	0.0435	497	c.-11 others(518): Show c.-110-39194_-110-39193insGATATGATATGATATATCATATAT ATCATATATATCATATATGATATGATATGATATATCATATATATCATATA TATCATATATGATATGATATGATATATCATATATATCATATATATCATAT ATGATATGATATATCATATATATCATATATATCATATATGATATGATATA TCATATATATCATATATATCATATATGATATGATATGATATATCATATAT ATCATATATATCATATATGATATGATATGATATATCATATATATCATATA TATCATATATGATATGATATATATGATATATATCATATATGATATATATC ATATATGATATGATATGATATATATCATATATGATATATATCATATATAT CATATATGATATATATCATATATATCATATATGATATATATCATATATAT CATATATGATATATATCATATATATCATATATGATATATATCATATATAT CATATATGATATATATCATATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FLACC1_chr2_201283271_201362345	201284695	G G	GGGGAGAG others(490): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAAGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGG GAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGAGACGGGAGACAGGGAGA GGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGA GAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACG GGGAGAGGGAGAGGGAGACGGGAGACAGGGAGAGGGAGACGGGGAGAGGG AGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGACAGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0210 a0002c0002t0004g0210	1	224	0.0045	497	c.39 others(508): Show c.3959_*3960insTCTCCCTCTCCCTCTCGTCTCCCTCTCCCTCTCC CTGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCT CTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCC CCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGT CTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTGTCTCCCGTCTC CCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTC TCCCCGTCTCCCTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCC TCTCCCCGTCTCCCTCTCCCTGTCTCCCGTCTCCTCTCCCTCTCCCCGTC TCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCC TCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCTTCCCCGTCTCCCTCTCC CTCTCCCTCTCCC	FLACC1	ENSG00000155749.13	transcript	ENST00000392257.8	protein_coding		3575		chr2	TogoVar
FLT3_chr13_27998274_28105576	27998958	A A	AATATATA others(490): Show AATATATATATTTATATACATATAAATATATATATTTATATACATATAAA TATATATATTTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATATTTATATACATATAAATATA TATATTTATATACATATAAATATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATATATTTATATATATATATATTTATATA TATATATTTATATATAAATATATATATATATATAAATATATATATTTATA TACAAATATATATATATTTATATATAAATATATATATTTATATACATATA AATATATATATTTATATATAAATATATATATATATAAATATATGTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0001 a0003c0020t0001	a0003c0020t0001g0246 a0003c0020t0001g0246	1	95	0.0105	497	c.50 others(508): Show c.5093_*5094insATAACATATATTTATATATATATATATTTATATA TAAATATATATATTTATATGTATATAAATATATATATTTATATATAAATA TATATATATTTGTATATAAATATATATATTTATATATATATATATATTTA TATATAAATATATATATATAAATATATATATATATAAATATATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATA TGTATATAAATATATATATTTATATGTATATAAATATATATATTTATATG TATATAAATATATATATTTATATGTATATAAATATATATATTTATATGTA TATAAATATATATATTTATATGTATATAAATATATATATTTATATGTATA TAAATATATATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4315		chr13	TogoVar
GAL3ST2_chr2_241771822_241809287	241807650	T T	TCCCTCCC others(490): Show TCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCT CAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAA CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0131 a0002c0002t0001g0131	1	297	0.0034	497	c.34 others(508): Show c.3484_*3485insCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAG GGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAA CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGA CCTCCGCAGGCCA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3364		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132241675	G G	GGGGCCCT others(490): Show GGGGCCCTCCCTATACTCATTACACACACGCCACACCCCCTTCCCAGGGC CCTCCCTATACCTATTACACACACAACACACACCCTTCCAGGGGCCCTCC CTATCCCCATTACACACACGCCACACACCCTTCCTGGGGCCGTCCCTATA CCCATTACACACACACCACACACCCTTCCCGGAGCCCTCCCTATACCCAT TACACACACGCCACACACCCTTCCCGGAGCCCTCCCTATACCCATTACAC ACACAACACACACCCTTCCCGGAGCCCTCCCTATACCCATTACACACACA CCACACACCCTTCCCGGAGCCCTCCCTATACCCATTACACACACGCCACA CACCCTTCCCGGAGCCCTCCCTATACCCATTACACACACACCACACACCC TTCCCAGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCC GGAGCCCTCCCTATACCCATTACACACACACCACACACCCTTCCCGGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0047 a0001c0018t0001g0047	1	181	0.0055	497	c.107 others(516): Show c.1077+6234_1077+6235insTCCGGGAAGGGTGTGTGGTGTGTGTG TAATGGGTATAGGGAGGGCTCCGGGAAGGGTGTGTGGCGTGTGTGTAATG GGTATAGGGAGGGCCCTGGGAAGGGTGTGTGGTGTGTGTGTAATGGGTAT AGGGAGGGCTCCGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGA GGGCTCCGGGAAGGGTGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCT CCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCTCCGGG AAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCTCCGGGAAGGG TGTGTGGTGTGTGTGTAATGGGTATAGGGACGGCCCCAGGAAGGGTGTGT GGCGTGTGTGTAATGGGGATAGGGAGGGCCCCTGGAAGGGTGTGTGTTGT GTGTGTAATAGGTATAGGGAGGGCCCTGGGAAGGGGGTGTGGCGTGTGTG TAATGAGTATAGGGAGGGCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241824	C C	CCATTTAC others(490): Show CCATTTACACACACGCCACGCCCCCGTCCCGGGGCCCTCCCTATACCCAT TACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACAC ACTCACCACACACCCTTCCAGGGGCCGTCCCTATACCCATTACACACACG CCACACACCCTTCCCGGGGCCCTCCCTATACCCATTTACACACACGCCAC GCCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCC CTTCCCGGGGCCCTCCCTATACCCATTACACACACACCACACCCCCTTCA AGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCAGGGG CCCTCCCTATACCCATTACACACACGCCACACACCCTTCCAGGGGCCCTC CCTATACCCATTACACACACGCCACACACCCTTCCCAGGGCCGTCCCTAT ACCCATTACACACACAACACACACCCTTCCCGGGGCCCTCCCTATACA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	182	0.0055	497	c.107 others(516): Show c.1077+6085_1077+6086insTGTATAGGGAGGGCCCCGGGAAGGGT GTGTGTTGTGTGTGTAATGGGTATAGGGACGGCCCTGGGAAGGGTGTGTG GCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGCGTG TGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGCGTGTGTGT AATGGGTATAGGGAGGGCCCCTTGAAGGGGGTGTGGTGTGTGTGTAATGG GTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATA GGGAGGGCCCCGGGAAGGGGGCGTGGCGTGTGTGTAAATGGGTATAGGGA GGGCCCCGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGACGGCC CCTGGAAGGGTGTGTGGTGAGTGTGTAATGGGTATAGGGAGGGCCCCGGG AAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGACGGG GGCGTGGCGTGTGTGTAAATG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132244728	T T	TGGGGGGG others(490): Show TGGGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGA CGGGTGCGTGGTGATGGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGG ACGGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGA CGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGATG GGGGCGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGGCTGGACGG GGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACG GGGGCGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGCTGGATGGG GGCGTGGTGATGGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGACGG GGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGATGGGG GCGTGGTGATGGGGCTGGACGGGGGGGGCGTGGTGATGGGGCTGGATG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	167	0.0060	497	c.107 others(516): Show c.1077+3181_1077+3182insCATCCAGCCCCATCACCACGCCCCCC CCGTCCAGCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCC GTCCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCCC GTCCAGCCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCA TCCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTC CAGCCCCATCACCACGCCCCCCCCGTCCAGCCCCCATCACCACGCCCCCA TCCAGCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCGTC CAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTCCA GCCCCATCACCACGCCCCCCGTCCAGCCCCATCACCACGCCCCCCCGTCC AGCCCCCATCACCACGCACCCGTCCAGCCCCATCACCACGCCCCCGTCCA GCCCCATCACCACGCCCCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GNA15_chr19_3131033_3168749	3145577	T T	TCTCACTC others(490): Show TCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAACCTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATT TTTAGTAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAAC TCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATT ACAGGCATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAAT ACTCAGCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTG ATCAAAAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCA ATTTGCCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAA AAGCCTTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTGGAGACGGAGC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02258.hp2 HG02300.hp1 others(2): Show HG01168.hp1 HG02258.hp2 HG02300.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0001t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0303 a0001c0001t0005g0345 a0001c0002t0001g0005 others(1): Show a0001c0001t0001g0303 a0001c0001t0005g0345 a0001c0002t0001g0005 a0001c0002t0001g0067	5	92	0.0543	497	c.146 others(514): Show c.146-2988_146-2987insCAGTGGTGTGATCTCGGCTCACTGCAAC CTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATTTTTAG TAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTG ACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAATACTCA GCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTGATCAA AAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCAATTTG CCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAAAAGCC TTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTGGAGACGGAGCCTCACTC TGTCACCCAGGCTGGAGTG	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar

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