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
ABCB11_chr2_168915781_169036324	168975544	T T	TATAAATA others(187): Show TATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTAGAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATT TATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	160	0.0063	194	c.130 others(213): Show c.1308+1032_1308+1033insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTCTAAATATAAAAATATTTATATATTTAT AAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975544	T T	TATAAATA others(187): Show TATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATT TATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02015.hp1 HG02040.hp2 others(20): Show HG01255.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02145.hp1 HG02293.hp1 HG02723.hp1 HG02922.hp1 HG03130.hp2 HG03486.hp1 HG03710.hp1 NA18522.hp2 NA18942.hp2 NA18965.hp2 NA18980.hp1 NA18991.hp1 NA18994.hp2 NA19002.hp2 NA19011.hp2 NA19058.hp2 NA19065.hp2 NA19070.hp1 NA19084.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0016	a0001c0001 a0001c0002 a0001c0022 others(6): Show a0001c0001 a0001c0002 a0001c0022 a0001c0038 a0001c0062 a0003c0017 a0007c0037 a0007c0047 a0016c0040	a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 others(11): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 a0001c0002t0002 a0001c0002t0003 a0001c0002t0015 a0001c0002t0021 a0001c0022t0001 a0001c0038t0006 a0001c0062t0004 a0003c0017t0009 a0007c0037t0007 a0007c0047t0007 a0016c0040t0001	a0001c0001t0001g0117 a0001c0001t0001g0142 a0001c0001t0001g0190 others(19): Show a0001c0001t0001g0117 a0001c0001t0001g0142 a0001c0001t0001g0190 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0013g0127 a0001c0001t0014g0164 a0001c0002t0002g0141 a0001c0002t0002g0151 a0001c0002t0002g0169 a0001c0002t0003g0118 a0001c0002t0015g0004 a0001c0002t0021g0170 a0001c0022t0001g0023 a0001c0038t0006g0177 a0001c0062t0004g0226 a0003c0017t0009g0079 a0007c0037t0007g0189 a0007c0047t0007g0090 a0016c0040t0001g0258	23	182	0.1264	194	c.130 others(213): Show c.1308+1032_1308+1033insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTAT AAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ACACB_chr12_109111587_109273226	109210255	A A	ATGTGTGT others(187): Show ATGTGTGTATATGTATATATGTATATATACACACATGTGTGTATATGTAC ATATACACACATGTGTGTATATGTACATATACACACATGTGTGTATATGT ACACATACACACATGTGTGTATATGTACATATACACACATGTGTGTATAT GTACATATACACACATGTGTGTATATGTATATACACACACATATC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0087 a0001c0087	a0001c0087t0001 a0001c0087t0001	a0001c0087t0001g0236 a0001c0087t0001g0236	1	141	0.0071	194	c.324 others(211): Show c.3249+916_3249+917insTATATGTATATATACACACATGTGTGTA TATGTACATATACACACATGTGTGTATATGTACATATACACACATGTGTG TATATGTACACATACACACATGTGTGTATATGTACATATACACACATGTG TGTATATGTACATATACACACATGTGTGTATATGTATATACACACACATA TCTGTGTGTATATGTA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210255	A A	ATGTGTGT others(187): Show ATGTGTGTATATGTATATATGTATATATACACACATGTGTGTATATGTAC ATATACACACATGTGTGTATATGTACATATACACACATGTGTGTATATGT ACATATACACACATGTGTGTATATGTACATATACACACATGTGTGTATAT GTACATATACACACATGTGTGTATATGTATATACACACACATATC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0006 a0002c0021t0006	a0002c0021t0006g0254 a0002c0021t0006g0254	1	141	0.0071	194	c.324 others(211): Show c.3249+916_3249+917insTATATGTATATATACACACATGTGTGTA TATGTACATATACACACATGTGTGTATATGTACATATACACACATGTGTG TATATGTACATATACACACATGTGTGTATATGTACATATACACACATGTG TGTATATGTACATATACACACATGTGTGTATATGTATATACACACACATA TCTGTGTGTATATGTA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210255	A A	ATGTGTGT others(187): Show ATGTGTGTATATGTATATATGTATATATACACACATGTGTGTATATGTAT ATATACACACATGTGTGTATATGTACATATACACACATGTGTGTATATGT ACATATACACACATGTGTGTATATGTACATATACACACATGTGTGTATAT GTACATATACACACATGTGTGTATATGTATATACACACACATATC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0002 a0001c0045t0002	a0001c0045t0002g0142 a0001c0045t0002g0142	1	141	0.0071	194	c.324 others(211): Show c.3249+916_3249+917insTATATGTATATATACACACATGTGTGTA TATGTATATATACACACATGTGTGTATATGTACATATACACACATGTGTG TATATGTACATATACACACATGTGTGTATATGTACATATACACACATGTG TGTATATGTACATATACACACATGTGTGTATATGTATATACACACACATA TCTGTGTGTATATGTA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADAM8_chr10_133257423_133281868	133280937	G G	GGGACAGC others(187): Show GGGACAGCACTGGGCCAGGGCGGTGTTGGGCAGGGGCAGGTGCTGGACTG AGCTGAGGAAGGGCTGAGCCAGGGCGGTGCTGGGCAGGGGCAGGTGCTGG GCTGAGCTGGGGGAAGGCTGAGCCGGGGCAGCACTGGGCCAGGGCAGTGC TGGGCAGGGGCAGGCGCTGGGCTGAGCTGGGGGAAGGCTGAGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	384	0.0026	194	c.-41 others(205): Show c.-4121_-4120insTGGCTCAGCCTTCCCCCAGCTCAGCCCAGCGCCT GCCCCTGCCCAGCACTGCCCTGGCCCAGTGCTGCCCCGGCTCAGCCTTCC CCCAGCTCAGCCCAGCACCTGCCCCTGCCCAGCACCGCCCTGGCTCAGCC CTTCCTCAGCTCAGTCCAGCACCTGCCCCTGCCCAACACCGCCCTGGCCC AGTGCTGTCC	ADAM8	ENSG00000151651.16	transcript	ENST00000445355.8	protein_coding		4070		chr10	TogoVar
ADAMTS3_chr4_72275969_72574221	72456092	A A	ACATATAG others(187): Show ACATATAGTATATATACTATATATATATTTTACATATAGTATATATACTA TATATATTTTATATATATAGTATATATACTATATATATTTTATATATAGT ATATATACTGTATATACTTTATATATAGTATATATACTGTATATACTTTA TATATAGTATATATACTGTATATACTATATATATTTTATATATAG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18992.hp2 NA18977.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0147 a0001c0001t0014g0148 a0001c0001t0002g0147 a0001c0001t0014g0148	2	138	0.0145	194	c.505 others(213): Show c.505-41122_505-41121insCTATATATAAAATATATATAGTATAT ACAGTATATATACTATATATAAAGTATATACAGTATATATACTATATATA AAGTATATACAGTATATATACTATATATAAAATATATATAGTATATATAC TATATATATAAAATATATATAGTATATATACTATATGTAAAATATATATA TAGTATATATACTATATG	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADGB_chr6_146593972_146820462	146615248	T T	TAAGAATT others(187): Show TAAGAATTCACCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0017 a0017	a0017c0052 a0017c0052	a0017c0052t0001 a0017c0052t0001	a0017c0052t0001g0011 a0017c0052t0001g0011	1	267	0.0037	194	c.74+ others(211): Show c.74+16144_74+16145insCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGAATTCAC	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRA1_chr10_133082924_133136675	133112891	C C	CGTTGGTT others(187): Show CGTTGGTTCGGTTATTTGGGGTCTGTAAGCTGTGTCGGTTATTTGAGGTC TGCGGGCTGTGTCGGTTATTTGGGGTCTGCGGGCCACGTCAGTTATTTGG GGTCTATAAGCTGTGTCAGTTATTTGGGGTCTGCGGGCCGCGTCAGTTAT TTGGGGTCTGTAAGCTGTGTCAGTTATTTGGGGTCTGCGGGCCGT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0195 a0001c0001t0013g0195	1	364	0.0027	194	c.401 others(213): Show c.401+10051_401+10052insTGGTTCGGTTATTTGGGGTCTGTAAG CTGTGTCGGTTATTTGAGGTCTGCGGGCTGTGTCGGTTATTTGGGGTCTG CGGGCCACGTCAGTTATTTGGGGTCTATAAGCTGTGTCAGTTATTTGGGG TCTGCGGGCCGCGTCAGTTATTTGGGGTCTGTAAGCTGTGTCAGTTATTT GGGGTCTGCGGGCCGTGT	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(187): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0026 a0003c0003t0002g0026	1	138	0.0072	194	c.32- others(207): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
AGBL4_chr1_48527854_50028954	49948006	A A	ATTTATAA others(187): Show ATTTATAAATATATATTTATATATATAAATATATATTTATAAATATATAT TTATATATATAAATATATATATTTATAAATATATATTTATATATATAAAT ATATATATTTATAAATATATATTTATATATAAATATATATTTATAAATAT ATATTTATATATATAAATATATATTTATATATATAAATATATATT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp1 HG02572.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0022 a0001c0001t0007g0021 a0001c0001t0002g0022 a0001c0001t0007g0021	2	104	0.0192	194	c.34+ others(211): Show c.34+75756_34+75757insAATATATATTTATATATATAAATATATA TTTATATATATAAATATATATTTATAAATATATATTTATATATAAATATA TATTTATAAATATATATATTTATATATATAAATATATATTTATAAATATA TATATTTATATATATAAATATATATTTATAAATATATATTTATATATATA AATATATATTTATAAA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AK3_chr9_4704556_4746202	4735272	T T	TACATATA others(187): Show TACATATATAAATATATATATACATATATAAATATATATACATATATAAA TATATATATACATATATAAATATATATACATATATAAATATATATATACA TATATAAATATATATATACATATATAAATATATATACATATATAAATATA TATATACATATATAAATATATATATAAATATATATACATATATAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0098 a0001c0001t0066g0098	1	343	0.0029	194	c.151 others(211): Show c.151+5664_151+5665insTTATATATGTATATATATTTATATATAT ATTTATATATGTATATATATATTTATATATGTATATATATTTATATATGT ATATATATATTTATATATGTATATATATATTTATATATGTATATATATTT ATATATGTATATATATATTTATATATGTATATATATTTATATATGTATAT ATATATTTATATATGT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK5_chr1_77277019_77564966	77444297	T T	TAGTATAA others(187): Show TAGTATAAATATATACTATATATAGTATATATAGTATAAATATATACTAT ATATAGTATATACATAGTATAAATATATACTATATATAGTATATACATAG TATAAATATATACTATATATAGTATATACATAGTATAAATATATACTATA TATAGTATATACATAGTATAAATATATACTATATATAGTATATAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0094 a0002c0002t0013g0094	1	275	0.0036	194	c.105 others(215): Show c.1059+26583_1059+26584insGTATAAATATATACTATATATAGT ATATATAGTATAAATATATACTATATATAGTATATACATAGTATAAATAT ATACTATATATAGTATATACATAGTATAAATATATACTATATATAGTATA TACATAGTATAAATATATACTATATATAGTATATACATAGTATAAATATA TACTATATATAGTATATACA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK8_chr9_132720578_132883284	132822250	T T	TATGTGTA others(187): Show TATGTGTATGTATATACAAATATATACATATGTGTATGTATATACAAATA TATACATATGTGTATGTATATACAAATATATACATATGTGTATGTATATA CAAATATATACATATGTGTATGTATATACAAATATATACATATGTGTATG TATATACAAATATATACATATGTGTATGTATATACAAATATATAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	263	0.0038	194	c.889 others(209): Show c.889+954_889+955insGTATATATTTGTATATACATACACATATGT ATATATTTGTATATACATACACATATGTATATATTTGTATATACATACAC ATATGTATATATTTGTATATACATACACATATGTATATATTTGTATATAC ATACACATATGTATATATTTGTATATACATACACATATGTATATATTTGT ATATACATACACAT	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	9/12			chr9	TogoVar
ALLC_chr2_3653200_3707671	3690306	T T	TCCCCTCC others(187): Show TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC GTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCCCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0133 a0002c0002t0002g0133	1	235	0.0043	194	c.512 others(211): Show c.512-5407_512-5406insTCCCCCCTCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCGTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC CCCCTCCCCCTCCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
AMPH_chr7_38378704_38636373	38570972	T T	TATATATT others(187): Show TATATATTTATATATATAGAATATATATATAGAATATATATTTATATATA TAGAATATATATATAGAATATATATTTATATATATAGAATATATATATAG AATATATATTTATATATATAGAATATATATATAGAATATATATTTATATA TATAGAATATATATATAGAATATATATATAGAATATATATATAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG00642.hp2 others(13): Show HG00099.hp1 HG00642.hp1 HG00642.hp2 HG01099.hp2 HG01109.hp1 HG01257.hp2 HG01258.hp2 HG02165.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG04184.hp2 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0007t0001 a0002c0004t0005	a0001c0001t0001g0020 a0001c0001t0001g0054 a0001c0001t0001g0055 others(13): Show a0001c0001t0001g0020 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0258 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0003g0057 a0001c0001t0003g0202 a0001c0001t0004g0053 a0001c0002t0002g0021 a0001c0002t0002g0024 a0001c0002t0002g0029 a0001c0007t0001g0090 a0002c0004t0005g0106 a0002c0004t0005g0142	16	165	0.0970	194	c.70- others(211): Show c.70-35962_70-35961insTCTATATATATATTCTATATATATATTC TATATATATATTCTATATATATAAATATATATTCTATATATATATTCTAT ATATATAAATATATATTCTATATATATATTCTATATATATAAATATATAT TCTATATATATATTCTATATATATAAATATATATTCTATATATATATTCT ATATATATAAATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ANGEL1_chr14_76781009_76817882	76793429	G G	GGGGAGAG others(187): Show GGGGAGAGGAGGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGAGGA GGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGAGGAGGGGAGGGGA GAGGAGGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGAGGAGGGGA GGGGAGGGGAGAGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	394	0.0025	194	c.161 others(213): Show c.1619-2064_1619-2063insTCCCCTCCCCTCCCCTCCTCTCCCCT CCCCTCCTCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCCTCCTCT CCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCCT CCTCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCCTCCTCTCCCCT CCCCTCCCCTCCTCTCCC	ANGEL1	ENSG00000013523.11	transcript	ENST00000251089.8	protein_coding	7/9			chr14	TogoVar
ANKS1B_chr12_98738974_99989936	99139345	C C	CCCTCCCT others(187): Show CCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTCCC TCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCCTTTCCCTTCC CTTTCCCTTCCTTCTTTCTTTCCTCCTTTCTTTCCTTTCCTTCCTTTCTT TCTTCCTTCCTTCCCTTCCCTTCTTCCTTTCTTCCTTCCTTTCTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03209.hp2 NA20300.hp1 HG02145.hp1 HG03209.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0003t0006 a0001c0004t0001 a0001c0001t0002 a0001c0003t0006 a0001c0004t0001	a0001c0001t0002g0012 a0001c0003t0006g0022 a0001c0004t0001g0013 a0001c0001t0002g0012 a0001c0003t0006g0022 a0001c0004t0001g0013	3	46	0.0652	194	c.252 others(215): Show c.2526+14943_2526+14944insAAGAAAGGAAGGAAGAAAGGAAGA AGGGAAGGGAAGGAAGGAAGAAAGAAAGGAAGGAAAGGAAAGAAAGGAGG AAAGAAAGAAGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAGGAGGGAGGG AGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGGAGAAA AAGAGAGAGAAGGAGGGAGG	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
ANO7_chr2_241183677_241230976	241218100	G G	GGGCAGCG others(187): Show GGGCAGCGGGGGCGCGCAGGGGCGGAGCGGGGGGCAGCGGGGGCGCGCAG GGGCGGGGCGGGGGCAGCGGGGGCGCGTAGGGGCGGGGCGGGGGGGGCAG CGGGGGCGCGCAGGGGCGGGGCGGGGGGGCAGCGGGGGCGCGCAGGGGCG GAGCGGGGGCGCGCAGGGGCGGAGCGGGGGCAGCGGGGGCGCGCA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0004 a0011c0015t0004	a0011c0015t0004g0247 a0011c0015t0004g0247	1	357	0.0028	194	c.217 others(211): Show c.2179-137_2179-136insCAGCGGGGGCGCGCAGGGGCGGAGCGGG GGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGCAGCGGGGGCGCGTAGG GGCGGGGCGGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGGCA GCGGGGGCGCGCAGGGGCGGAGCGGGGGCGCGCAGGGGCGGAGCGGGGGC AGCGGGGGCGCGCAGG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
AP3D1_chr19_2095988_2156566	2128626	C C	CCCCACAG others(187): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCAC CCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCC GGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0312 a0001c0006t0002g0312	1	392	0.0026	194	c.806 others(209): Show c.806+463_806+464insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCG GGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCA CGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGT GTCGGAGCTGTGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128705	C C	CCCCACAG others(187): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCAC CCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCC GGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0013 a0001c0014t0013	a0001c0014t0013g0008 a0001c0014t0013g0008	1	389	0.0026	194	c.806 others(209): Show c.806+384_806+385insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCG GGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCA CGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGT GTCGGAGCTGTGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128784	C C	CCCCACAG others(187): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTC CGACACTGCACCCCGTGGAGCCGGCCCACCCCACAGCTCCGACACTGCAC CCCGTGGAGCCGGCCCACCCCACAGCTCCGACACTGCACCCCGTGGAGCC GGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	386	0.0026	194	c.806 others(209): Show c.806+305_806+306insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGTG GGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGTGGGCCGGCTCCA CGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGT GTCGGAGCTGTGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128946	C C	CACAGCTC others(187): Show CACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCGCCGCTCCGA CACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCC GTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGC CCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCACCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	404	0.0025	194	c.806 others(209): Show c.806+143_806+144insAGGTGGGCCGGCTCCACGGGGTGCAGTGTC GGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGG GCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCT CCACGGGGTGCAGTGTCGGAGCGGCGGGGCGGGCCGGCTCCACGGGGTGC AGTGTCGGAGCTGT	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128983	C C	CCCCACAG others(187): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTC CGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCAC CCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCC GGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0369 a0001c0001t0003g0369	1	390	0.0026	194	c.806 others(209): Show c.806+106_806+107insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCG GGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCA CGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGT GTCGGAGCTGTGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP4S1_chr14_31020649_31101450	31036969	T T	TGCCCGGC others(187): Show TGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0249 a0001c0001t0005g0249	1	342	0.0029	194	c.-72 others(213): Show c.-72+11198_-72+11199insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGC AGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC GCGCCCGGCTAATTTTTT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
APOOL_chrX_84998877_85098315	85088155	C C	CATACATA others(187): Show CATACATATTTATACATATATATGTATAAATACATACATATTTATACATA TATATGTATAAATACATACATATTTATACATATATATGTATAAATACATA CATATTTATACATATATATGTATAAATACATACATATTTATACATATATA TGTATAAATACATATACATATATGTATAAATATATATGTATACAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG01167.hp1 others(17): Show HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG02258.hp1 HG02280.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03209.hp1 HG03225.hp1 HG06807.hp1 NA18906.hp1 NA18968.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0015 others(3): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0015 a0001c0001t0023 a0001c0001t0042 a0001c0001t0043	a0001c0001t0004g0222 a0001c0001t0004g0224 a0001c0001t0004g0225 others(17): Show a0001c0001t0004g0222 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0007g0236 a0001c0001t0007g0240 a0001c0001t0007g0241 a0001c0001t0007g0243 a0001c0001t0007g0245 a0001c0001t0015g0235 a0001c0001t0015g0242 a0001c0001t0023g0238 a0001c0001t0023g0244 a0001c0001t0042g0228 a0001c0001t0043g0213	20	232	0.0862	194	c.49 others(203): Show c.497_*498insATGTATAAATACATACATATTTATACATATATATGT ATAAATACATACATATTTATACATATATATGTATAAATACATACATATTT ATACATATATATGTATAAATACATACATATTTATACATATATATGTATAA ATACATATACATATATGTATAAATATATATGTATACATATACATATTTAT ACATATAT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	498	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARFRP1_chr20_63693647_63712976	63693648	A A	ACCACCTC others(187): Show ACCACCTCACCACCTCCACCTCCACCACCTCCACCTCCCACCTCCACCAC CTCCACCTCCACCTCCACCACCTCCACCTCCACCTCCACCTCCACCACCT CCACCACCTCCACCTCCACCACCTCCACCACCACCTCCACCTCCACCTCC ACCTCCACCTCCCACCTCCACCTCCACCACACCACCACCTCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	283	0.0035	194	c.67 others(205): Show c.6794_*6795insAGGTGAGGTGGTGGTGTGGTGGAGGTGGAGGTGG GAGGTGGAGGTGGAGGTGGAGGTGGAGGTGGTGGTGGAGGTGGTGGAGGT GGAGGTGGTGGAGGTGGTGGAGGTGGAGGTGGAGGTGGAGGTGGTGGAGG TGGAGGTGGAGGTGGTGGAGGTGGGAGGTGGAGGTGGTGGAGGTGGAGGT GGTGAGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4998		chr20	TogoVar
ARHGAP28_chr18_6724716_6920716	6909300	C C	CTTTTCTT others(187): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	215	0.0047	194	c.209 others(211): Show c.2095+280_2095+281insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTTTTT	ARHGAP28	ENSG00000088756.13	transcript	ENST00000383472.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr18	TogoVar
ARHGAP39_chr8_144524179_144690846	144592371	C C	CACCTCCT others(187): Show CACCTCCTGGGGGACAGCACTGAGCCCAGACCCTCGGGGAACCTGAGGGC ACCTCCTGGGGGACAGCACTGAGCCCAGACCCTCGGGAAACCTGAGGGCA CCTCCTGGGGGACAGCACTGAGCCCAGACCCTAGGAAACCTGAGGGCACC TCCTGGGGGACAGCACTGAGCCCAGACCCTAGGAAACCTGAGGGT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18947.hp1 NA18941.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0181 a0001c0001t0001g0182	2	244	0.0082	194	c.81- others(211): Show c.81-11288_81-11095dupACCCTCAGGTTTCCTAGGGTCTGGGCTC AGTGCTGTCCCCCAGGAGGTGCCCTCAGGTTTCCTAGGGTCTGGGCTCAG TGCTGTCCCCCAGGAGGTGCCCTCAGGTTTCCCGAGGGTCTGGGCTCAGT GCTGTCCCCCAGGAGGTGCCCTCAGGTTCCCCGAGGGTCTGGGCTCAGTG CTGTCCCCCAGGAGGT	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	2/11			chr8	TogoVar
ARID4B_chr1_235161902_235333179	235223364	T T	TACACGTA others(187): Show TACACGTATATATATATATACACGTATATATATATATACACGTATATATA TATATACACGTATATATATATATACACGTATATATATACACATATATATA TATACACGTATATATATATACACACGTATATATATATACACACGTATATA TATATATATACACGTATATATATATACACACGTATATATATATAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp2 HG02145.hp1 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0004 a0001c0002t0001g0006	2	260	0.0077	194	c.971 others(209): Show c.971-105_971-104insGTATATATATATACGTGTGTATATATATAT ACGTGTATATATATATATATACGTGTGTATATATATATACGTGTGTATAT ATATATACGTGTATATATATATATGTGTATATATATACGTGTATATATAT ATATACGTGTATATATATATATACGTGTATATATATATATACGTGTATAT ATATATATACGTGT	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	12/23			chr1	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(187): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01358.hp2 HG01192.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0105 a0001c0001t0001g0007 a0001c0001t0001g0105	2	193	0.0104	194	c.102 others(211): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCC CCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(187): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	192	0.0052	194	c.102 others(211): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCC CCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ASCC1_chr10_72091032_72221276	72198327	G G	GAGGGGGA others(187): Show GAGGGGGACGGGAGGGGAGGGGGGAGGGGAGGGGGACGGGAGGGGAGGGG GAGGGGAGGGGGACGGGAGGGGGACGGGGAGGGGACGGGGAGGGGACGGG GAGGGGACAGGGAGGGGAGGGGAGGGGGGAGGGGACGGGGAGGGGACGGG AGGGGAGGGGGACGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0179 a0002c0002t0001g0179	1	214	0.0047	194	c.311 others(211): Show c.311-1339_311-1338insTCCCCTCCCCTCCCCCCTCCCCCTCCCC TCCCGTCCCCCTCCCCTCCCGTCCCCTCCCCGTCCCCTCCCCCCTCCCCT CCCCTCCCTGTCCCCTCCCCGTCCCCTCCCCGTCCCCTCCCCGTCCCCCT CCCGTCCCCCTCCCCTCCCCCTCCCCTCCCGTCCCCCTCCCCTCCCCCCT CCCCTCCCGTCCCCCT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ATP10B_chr5_160558120_160857211	160653838	A A	AAATATAT others(187): Show AAATATATGTTGTATATACGTATATACTATATATGTTGTATATACGTATA TACAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGT TGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATACA ACATAAATATATGTTGTATATACGTATATACAACATAAATATATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0207 a0001c0001t0009g0207	1	152	0.0066	194	c.676 others(211): Show c.676-4583_676-4582insCATATATTTATGTTGTATATACGTATAT ACAACATATATTTATGTTGTATATACGTATATACAACATATATTTATGTT GTATATACGTATATACAACATATATTTATGTTGTATATACGTATATACAA CATATATTTATGTTGTATATACGTATATACAACATATATAGTATATACGT ATATACAACATATATT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP13A3_chr3_194397677_194492002	194421143	A A	ATAGTTTA others(187): Show ATAGTTTATATATATATACTATATATATAGTTTATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTTTATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTTTATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTTTATATATATATAC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19078.hp2 NA19089.hp1 NA19003.hp1 NA19078.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0024 a0001c0001t0011g0284 a0001c0001t0011g0285 a0001c0001t0004g0024 a0001c0001t0011g0284 a0001c0001t0011g0285	3	292	0.0103	194	c.331 others(213): Show c.3314-1177_3314-1176insGTATATATATATAAACTATATATATA GTATATATATATAAACTATATATATAGTATATATATAAACTATATATATA GTATATATATATAAACTATATATATAGTATATATATAAACTATATATATA GTATATATATATAAACTATATATATAGTATATATATAAACTATATATATA GTATATATATATAAACTA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
BTAF1_chr10_91918770_92036437	92012181	C C	CTCCCCTC others(187): Show CTCCCCTCCTCCCCTCCCCTCCTCTCCCCTCCTCCCCTCCCCTCCTCTCC TCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	163	0.0061	194	c.431 others(211): Show c.4311+766_4311+767insTCCCCTCCTCCCCTCCCCTCCTCTCCCC TCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCTCCCCT CCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCTCCCCT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126565175	T T	TTATGTAA others(187): Show TTATGTAATATAATATTATATTACATATTATGTAATATAAATATTATATT ACATAATATGTAATATAATATTTATATTACATAATATGTAATATAATATT TATATTACATAATATGTAATATAATATTATATTACATAATATGTAATATA ATATTTATATTACATATTATGTAATATAATATTTATATTACATAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0139 a0002c0003t0001g0139	1	133	0.0075	194	c.314 others(213): Show c.314-51237_314-51236insTTATGTAATATAAATATTATATTACA TAATATGTAATATAAATATTATATTACATATTATGTAATATAATATTATA TTACATATTATGTAATATAAATATTATATTACATATTATGTAATATAAAT ATTATATTACATATTATGTAATATAATATTTATATTACATAATATGTAAT ATAATATTATATTACATA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126565250	T T	TATTACAT others(187): Show TATTACATATTATGTAATATAATATTTATATTACATATTATGTAATATAA TATTTATATTACATATTATGTAATATAATATTTATATTACATATTATGTA ATATAATATTTATATTACATATTATGTAATATAATATTTATATTACATAT TATGTAATATAATATTTATATTACATAATATGTAATATAATATTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19240.hp2 HG02922.hp2 NA19240.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0019 a0001c0001 a0012c0019	a0001c0001t0001 a0012c0019t0012 a0001c0001t0001 a0012c0019t0012	a0001c0001t0001g0032 a0012c0019t0012g0125 a0001c0001t0001g0032 a0012c0019t0012g0125	2	215	0.0093	194	c.314 others(213): Show c.314-51312_314-51311insTAATATTATATTACATATTATGTAAT ATAAATATTATATTACATAATATGTAATATAAATATTATATTACATAATA TGTAATATAAATATTATATTACATAATATGTAATATAAATATTATATTAC ATAATATGTAATATAAATATTATATTACATAATATGTAATATAAATATTA TATTACATAATATGTAAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C7orf50_chr7_992006_1143247	1016632	C C	CACACAGC others(187): Show CACACAGCACACAGCAGCACACGCCAGCACACACCAGCGTACAGCAGCGC ACAGCAGCGCACGCCAGCGCACAGCAGCACACAGCAGCACACGCCAGCAC ACAGCAGCACACAGCACACAGCAGCACACGCCAGCACACAGCAGCACATG CCAGCACACACCAGCGTACAGCAGCACACAGCAGCGCACGCCAGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0158 a0001c0001t0007g0158	1	306	0.0033	194	c.130 others(211): Show c.130-6490_130-6489insACTGGCGTGCGCTGCTGTGTGCTGCTGT ACGCTGGTGTGTGCTGGCATGTGCTGCTGTGTGCTGGCGTGTGCTGCTGT GTGCTGTGTGCTGCTGTGTGCTGGCGTGTGCTGCTGTGTGCTGCTGTGCG CTGGCGTGCGCTGCTGTGCGCTGCTGTACGCTGGTGTGTGCTGGCGTGTG CTGCTGTGTGCTGTGT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1016632	C C	CACACAGC others(187): Show CACACAGCACACAGCAGCACACGCCAGCACACACCAGCGTACAGCAGCGC ACAGCAGCGCACGCCAGCGCACAGCAGCACACAGCAGCGCACGCCAGCAC ACAGCAGCACACAGCACACAGCAGCACACGCCAGCACACAGCAGCACATG CCAGCACACACCAGCGTACAGCAGCACACAGCAGCGCACGCCAGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02055.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0269 a0001c0001t0003g0281 a0001c0001t0003g0269 a0001c0001t0003g0281	2	307	0.0065	194	c.130 others(211): Show c.130-6490_130-6489insACTGGCGTGCGCTGCTGTGTGCTGCTGT ACGCTGGTGTGTGCTGGCATGTGCTGCTGTGTGCTGGCGTGTGCTGCTGT GTGCTGTGTGCTGCTGTGTGCTGGCGTGCGCTGCTGTGTGCTGCTGTGCG CTGGCGTGCGCTGCTGTGCGCTGCTGTACGCTGGTGTGTGCTGGCGTGTG CTGCTGTGTGCTGTGT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1016632	C C	CACACAGC others(187): Show CACACAGCACACAGCAGCACACGCCAGCACACACCAGCGTACAGCAGCGC ACAGCAGCGCACGCCGGCGCACAGCAGCACACAGCAGCGCACGCCAGCAC ACAGCAGCACACAGCACACAGCAGCACACGCCAGCACACAGCAGCACATG CCAGCACACACCAGCGTACAGCAGCACACAGCAGCGCACGCCAGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19043.hp1 HG03486.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0025 a0001c0001t0002 a0001c0001t0025	a0001c0001t0002g0315 a0001c0001t0025g0163 a0001c0001t0002g0315 a0001c0001t0025g0163	2	307	0.0065	194	c.130 others(211): Show c.130-6490_130-6489insACTGGCGTGCGCTGCTGTGTGCTGCTGT ACGCTGGTGTGTGCTGGCATGTGCTGCTGTGTGCTGGCGTGTGCTGCTGT GTGCTGTGTGCTGCTGTGTGCTGGCGTGCGCTGCTGTGTGCTGCTGTGCG CCGGCGTGCGCTGCTGTGCGCTGCTGTACGCTGGTGTGTGCTGGCGTGTG CTGCTGTGTGCTGTGT	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54763815	A A	ATATATAC others(187): Show ATATATACGTATATATACGTATATATATGTACATATATATACGTATATAT ACGTATATATATGTACATATATATACGTATATATACGTATATATATGTAC ATATATGTACATATATATACATATATATACGTATATATGTATATATGTAC ATATATATACGTATATATATGTATATATATGTACATATATATACG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0001 a0001c0002t0004g0001	1	94	0.0106	194	c.124 others(211): Show c.1247-397_1247-396insCGTATATATACGTATATATATGTACATA TATATACGTATATATACGTATATATATGTACATATATATACGTATATATA CGTATATATATGTACATATATGTACATATATATACATATATATACGTATA TATGTATATATGTACATATATATACGTATATATATGTATATATATGTACA TATATATACGTATATA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	12/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAMK4_chr5_111219384_111499886	111450625	T T	TAAAAATA others(187): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAG CTTGCAGTGAGCCGAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp2 HG01071.hp2 others(19): Show HG00099.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01123.hp1 HG01515.hp2 HG01517.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp1 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03239.hp1 NA18522.hp2 NA18906.hp1 NA18970.hp1 NA20300.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 others(17): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0021 a0001c0001t0023 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0041 a0001c0001t0043 a0001c0001t0061 a0001c0001t0092 a0001c0001t0120 a0001c0001t0121 a0001c0001t0124 a0001c0001t0145 a0002c0003t0001 a0002c0003t0030	a0001c0001t0002g0015 a0001c0001t0007g0121 a0001c0001t0010g0237 others(19): Show a0001c0001t0002g0015 a0001c0001t0007g0121 a0001c0001t0010g0237 a0001c0001t0010g0238 a0001c0001t0012g0165 a0001c0001t0015g0054 a0001c0001t0021g0002 a0001c0001t0023g0024 a0001c0001t0035g0135 a0001c0001t0036g0138 a0001c0001t0036g0154 a0001c0001t0039g0216 a0001c0001t0041g0006 a0001c0001t0043g0217 a0001c0001t0061g0143 a0001c0001t0092g0089 a0001c0001t0120g0133 a0001c0001t0121g0009 a0001c0001t0124g0093 a0001c0001t0145g0092 a0002c0003t0001g0059 a0002c0003t0030g0142	22	171	0.1287	194	c.625 others(211): Show c.625+1428_625+1429insACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCAGGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAT	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMKK2_chr12_121232692_121301709	121255235	T T	TATATATA others(187): Show TATATATATAATTTTATATATATATAATTATATATACAATTTTATATATA TATAATTATATATACAATTTTATATATATATAATTATATATACAATTTTA TATATATATAATTATATATACAATTTTATATATATATAATTATATATACA ATTTTATATATATATAATTATATATACAATTTTATATATATATAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0021 a0003c0003t0021	a0003c0003t0021g0264 a0003c0003t0021g0264	1	274	0.0036	194	c.907 others(209): Show c.907+314_907+315insTTATATATATATAAAATTGTATATATAATT ATATATATATAAAATTGTATATATAATTATATATATATAAAATTGTATAT ATAATTATATATATATAAAATTGTATATATAATTATATATATATAAAATT GTATATATAATTATATATATATAAAATTGTATATATAATTATATATATAT AAAATTATATATAT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CANT1_chr17_78986716_79014764	79004753	A A	AGGGGAGT others(187): Show AGGGGAGTTAGGGAGAGGGGAGTTAGGGAGAGGAGTTGGGGGGGAGTTAG GGAGGGGTGTTAGGGAGAGGGGGGTTAGGGAGAGGGGAGTTAGGGAGAGG GAGGTTAGGGAGGGGAGTTAGGGAGAGGAGAGTTAGGGAGAGGGGAGCTA GGGAGAGGACAGTTAGGGAGAGGAGTTAGGGAGGGGGGAGTTAGG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0196 a0003c0007t0006g0196	1	392	0.0026	194	c.-14 others(213): Show c.-147+4910_-147+4911insCCTAACTCCCCCCTCCCTAACTCCTC TCCCTAACTGTCCTCTCCCTAGCTCCCCTCTCCCTAACTCTCCTCTCCCT AACTCCCCTCCCTAACCTCCCTCTCCCTAACTCCCCTCTCCCTAACCCCC CTCTCCCTAACACCCCTCCCTAACTCCCCCCCAACTCCTCTCCCTAACTC CCCTCTCCCTAACTCCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAPN11_chr6_44153820_44189401	44181748	A A	ACACACAC others(187): Show ACACACACTCACATACAGACACAACCACACCACACTCTCACACACACACT CACATACAGACACAACCACACCACACCACACACACACACACTCACATACA GACACAACCACACCACACTCACACACACACACTCACATACAGACACAACC ACACCACACACACACACTCACATACAGACACAACCACACCACACT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	387	0.0026	194	c.193 others(211): Show c.1938+434_1938+435insCTCACATACAGACACAACCACACCACAC TCTCACACACACACTCACATACAGACACAACCACACCACACCACACACAC ACACACTCACATACAGACACAACCACACCACACTCACACACACACACTCA CATACAGACACAACCACACCACACACACACACTCACATACAGACACAACC ACACCACACTCACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN15_chr16_522712_559636	544707	C C	CCGTCTCC others(187): Show CCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGTCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0037 a0001c0046t0037	a0001c0046t0037g0267 a0001c0046t0037g0267	1	404	0.0025	194	c.-22 others(211): Show c.-22-2109_-22-2108insGTCTCCCCCACGTCGCCGTCTCCCCCAC GTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGTCGTC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(187): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0015 a0002c0004t0015	a0002c0004t0015g0320 a0002c0004t0015g0320	1	43	0.0233	194	c.234 others(211): Show c.234+6868_234+6869insCTCCTTCTCCTTCTCCTTCTTCCTCTCC CTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(187): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAG AGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0351 a0002c0003t0001g0351	1	43	0.0233	194	c.234 others(211): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCCTCTCCTTC TCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(187): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAG AGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18939.hp1 NA18612.hp2 NA18939.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0005 a0002c0003 a0003c0005	a0002c0003t0006 a0003c0005t0001 a0002c0003t0006 a0003c0005t0001	a0002c0003t0006g0353 a0003c0005t0001g0239 a0002c0003t0006g0353 a0003c0005t0001g0239	2	44	0.0455	194	c.234 others(211): Show c.234+6868_234+6869insCTTCTTCTTCTTCCTCTCCTTCTCCTTC TCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar

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