Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
AHCYL2_chr7_129220030_129435211	129331679	T T	TAAAAATA others(178): Show TAAAAATACAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0222 a0001c0002t0003g0222	1	292	0.0034	185	c.364 others(204): Show c.364-47946_364-47945insAAATTAGCCGGGCGTAGTGGCGGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA ATACAAAAA	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHRR_chr5_316714_443285	343420	A A	ATACCTTC others(178): Show ATACCTTCTCGGGGGTGACGGGAACACGGGACCCCGCGTACCTTCTCGGG GGTGACGGGAACACGGGATCCCGCGTACCTTCTCGGGGGTGACGGGAACA CGGGACCCCGCGTACCTTCTCGGGGGTGACGGGAACACGGGACCCCGCGT ACCTTCTCGGGGGTGACGGGAACACGGGACCCCGCG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0081 a0003c0004t0004g0081	1	268	0.0037	185	c.-10 others(200): Show c.-10-398_-10-397insACCTTCTCGGGGGTGACGGGAACACGGGAC CCCGCGTACCTTCTCGGGGGTGACGGGAACACGGGACCCCGCGTACCTTC TCGGGGGTGACGGGAACACGGGACCCCGCGTACCTTCTCGGGGGTGACGG GAACACGGGACCCCGCGTACCTTCTCGGGGGTGACGGGAACACGGGATCC CGCGT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	352358	C C	CGGTCACT others(178): Show CGGTCACTGTGAGGTTAAATGGGTCAGCTGTAGGGGATGGTCACTCTGAG GTTAAATGGGTCAGCTGTAGGGGATGGTCACTGTGAGGTTAAATGGGTCA GCTGTAGGGGATGGTCACTCTGAGGTTAAATAGGTCAGCTGTAGGGGATG GTCACTGTGAGGTTAAATGGGTCAGCTGTAGGGGAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG01081.hp1 others(8): Show HG00280.hp1 HG01070.hp2 HG01081.hp1 HG01358.hp1 HG02004.hp2 HG02280.hp1 HG02922.hp2 HG02965.hp1 HG03139.hp2 HG03195.hp1 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0016	a0001c0001 a0002c0002 a0003c0004 others(2): Show a0001c0001 a0002c0002 a0003c0004 a0004c0003 a0016c0024	a0001c0001t0001 a0001c0001t0017 a0001c0001t0029 others(6): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0029 a0001c0001t0056 a0001c0001t0059 a0002c0002t0010 a0003c0004t0004 a0004c0003t0024 a0016c0024t0017	a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0017g0264 others(8): Show a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0017g0264 a0001c0001t0029g0012 a0001c0001t0029g0013 a0001c0001t0056g0177 a0001c0001t0059g0016 a0002c0002t0010g0015 a0003c0004t0004g0014 a0004c0003t0024g0029 a0016c0024t0017g0265	11	268	0.0410	185	c.63- others(200): Show c.63-1364_63-1180dupGTGAGGTTAAATGGGTCAGCTGTAGGGGAT GGTCACTCTGAGGTTAAATGGGTCAGCTGTAGGGGATGGTCACTGTGAGG TTAAATGGGTCAGCTGTAGGGGATGGTCACTCTGAGGTTAAATAGGTCAG CTGTAGGGGATGGTCACTGTGAGGTTAAATGGGTCAGCTGTAGGGGATGG TCACT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AK5_chr1_77277019_77564966	77367904	T T	TATATAAT others(178): Show TATATAATATGTTATATATATTATATATAATATGTTATATATATTATATA TAACATATATTATATATAATATATATGTTATATATATTATATATAATATA TGTTATATATAATATATATAACATATGTTATATATAATATATATAACATA TGTTATATATAATATATATAATATATGTGATATATA	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0158 a0001c0001t0019g0158	1	284	0.0035	185	c.891 others(204): Show c.891+27342_891+27343insTATGTTATATATATTATATATAATAT GTTATATATATTATATATAACATATATTATATATAATATATATGTTATAT ATATTATATATAATATATGTTATATATAATATATATAACATATGTTATAT ATAATATATATAACATATGTTATATATAATATATATAATATATGTGATAT ATAATATAA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77367904	T T	TATATTAT others(178): Show TATATTATATGTTATATATATTATATATAATATGTTATATATAATATATA TAACATATATTATATATAATATATATGTTATATATATTATATATAATATA TGTTATATATAATATATATAACATATGTTATATATAATATATATAACATA TGTTATATATAATATATATAATATATGTGATATATA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0162 a0002c0002t0005g0162	1	284	0.0035	185	c.891 others(204): Show c.891+27340_891+27341insTATATGTTATATATATTATATATAAT ATGTTATATATAATATATATAACATATATTATATATAATATATATGTTAT ATATATTATATATAATATATGTTATATATAATATATATAACATATGTTAT ATATAATATATATAACATATGTTATATATAATATATATAATATATGTGAT ATATAATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77367904	T T	TATATTAT others(178): Show TATATTATATGTTATATATATTATATATAATATGTTATATATATTATATA TAACATATATTATATATAATATATATGTTATATATATTATATATAACATA TGTTATATATAATATATATAACATATGTTATATATAATATATATAACATA TGTTATATATAATATATATAATATATGTGATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	284	0.0035	185	c.891 others(204): Show c.891+27340_891+27341insTATATGTTATATATATTATATATAAT ATGTTATATATATTATATATAACATATATTATATATAATATATATGTTAT ATATATTATATATAACATATGTTATATATAATATATATAACATATGTTAT ATATAATATATATAACATATGTTATATATAATATATATAATATATGTGAT ATATAATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77367904	T T	TATATTAT others(178): Show TATATTATATGTTATATATATTATATATAATATGTTATATATATTATATA TAACATATATTATATATAATATATATGTTATATATATTATATATAATATA TGTTATATATAATATATATAACATATGTTATATATAATATATATAACATA TGTTATATATAATATATATAATATATGTGATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG02027.hp1 others(19): Show HG00408.hp2 HG00621.hp1 HG02027.hp1 HG02071.hp2 HG02132.hp1 HG02165.hp2 NA18941.hp1 NA18942.hp2 NA18951.hp1 NA18953.hp2 NA18959.hp2 NA18960.hp1 NA18966.hp2 NA18967.hp2 NA18982.hp2 NA18986.hp2 NA19000.hp1 NA19003.hp1 NA19011.hp2 NA19060.hp2 NA19065.hp1 NA19067.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0028 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0028 a0002c0002t0005	a0001c0001t0001g0078 a0001c0001t0001g0111 a0001c0001t0003g0147 others(19): Show a0001c0001t0001g0078 a0001c0001t0001g0111 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0003g0159 a0001c0001t0003g0166 a0001c0001t0003g0168 a0001c0001t0003g0176 a0001c0001t0003g0179 a0001c0001t0003g0181 a0001c0001t0003g0183 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0194 a0001c0001t0028g0185 a0002c0002t0005g0186 a0002c0002t0005g0192	22	284	0.0775	185	c.891 others(204): Show c.891+27340_891+27341insTATATGTTATATATATTATATATAAT ATGTTATATATATTATATATAACATATATTATATATAATATATATGTTAT ATATATTATATATAATATATGTTATATATAATATATATAACATATGTTAT ATATAATATATATAACATATGTTATATATAATATATATAATATATGTGAT ATATAATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77367904	T T	TATATTAT others(178): Show TATATTATATGTTATATATATTATATATAATATGTTATATATATTATATA TAACATATATTATATATAATATATATGTTATATATATTATATATAATATA TGTTATATATAATATATATAATATATGTTATATATAATATATATAACATA TGTTATATATAATATATATAATATATGTGATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01106.hp2 HG01169.hp2 others(8): Show HG00323.hp1 HG01106.hp2 HG01169.hp2 HG01496.hp1 HG02145.hp1 HG02280.hp2 HG02965.hp2 HG03239.hp1 HG03942.hp1 HG04204.hp2 NA18947.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0002c0002t0002 a0002c0002t0013 a0002c0002t0027	a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0164 others(8): Show a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0005g0231 a0001c0001t0006g0227 a0001c0001t0006g0228 a0002c0002t0002g0196 a0002c0002t0002g0265 a0002c0002t0013g0197 a0002c0002t0027g0175	11	284	0.0387	185	c.891 others(204): Show c.891+27340_891+27341insTATATGTTATATATATTATATATAAT ATGTTATATATATTATATATAACATATATTATATATAATATATATGTTAT ATATATTATATATAATATATGTTATATATAATATATATAATATATGTTAT ATATAATATATATAACATATGTTATATATAATATATATAATATATGTGAT ATATAATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77367904	T T	TATATTAT others(178): Show TATATTATATGTTATATATATTATATATTATATGTTATATATATTATATA TAACATATATTATATATAATATATATGTTATATATATTATATATAATATA TGTTATATATAATATATATAACATATGTTATATATAATATATATAACATA TGTTATATATAATATATATAATATATGTGATATATA	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18990.hp2 NA18988.hp1 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0151 a0002c0002t0005g0177 a0002c0002t0005g0151 a0002c0002t0005g0177	2	284	0.0070	185	c.891 others(204): Show c.891+27340_891+27341insTATATGTTATATATATTATATATTAT ATGTTATATATATTATATATAACATATATTATATATAATATATATGTTAT ATATATTATATATAATATATGTTATATATAATATATATAACATATGTTAT ATATAATATATATAACATATGTTATATATAATATATATAATATATGTGAT ATATAATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARFGEF2_chr20_48916711_49041693	48959479	C C	CCCTCCCT others(178): Show CCCTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCTCCCTTCTTCCTTCC CTTCTTCCTTTCCTCCTTCCTTTTCTCCTTCCCTCCCTCCCTCCTTCCCT TCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTCCCTTTCTCCT TCCCTCCTTCCCTCCCTCCCTCACTCCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG01884.hp2 others(18): Show HG00741.hp2 HG01109.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp2 HG02451.hp1 HG02559.hp1 HG02809.hp2 HG02965.hp2 HG02970.hp1 HG03139.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0022 a0001c0002 a0001c0022	a0001c0002t0001 a0001c0002t0005 a0001c0002t0015 others(2): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0015 a0001c0002t0022 a0001c0022t0001	a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0318 others(17): Show a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0318 a0001c0002t0005g0001 a0001c0002t0005g0015 a0001c0002t0005g0016 a0001c0002t0005g0017 a0001c0002t0005g0018 a0001c0002t0005g0020 a0001c0002t0005g0021 a0001c0002t0005g0022 a0001c0002t0005g0023 a0001c0002t0005g0024 a0001c0002t0005g0025 a0001c0002t0005g0026 a0001c0002t0005g0027 a0001c0002t0005g0349 a0001c0002t0015g0319 a0001c0002t0022g0197 a0001c0022t0001g0028	21	352	0.0597	185	c.839 others(202): Show c.839-4351_839-4350insCCTCCCTCCCTCCTTCCTTCCCTCCTTC CCTCCCTCCCTTCTTCCTTCCCTTCTTCCTTTCCTCCTTCCTTTTCTCCT TCCCTCCCTCCCTCCTTCCCTTCTTCCTTCCCTCCCTCCCTCCTTCCTTC CTTCCTTCCTCCCTTTCTCCTTCCCTCCTTCCCTCCCTCCCTCACTCCCT CCCTCCT	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	6/38			chr20	TogoVar
ARFGEF2_chr20_48916711_49041693	48959479	C C	CCCTCCCT others(178): Show CCCTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCTCCCTTCTTCCTTCC CTTCTTCCTTTCCTCCTTCCTTTTCTCCTTCCCTCCCTCCCTCCTTCCCT TCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCTTCCCTTTCTCCT TCCCTCCTTCCCTCCCTCCCTCACTCCCTCCCTCCT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0013 a0013	a0013c0009 a0013c0009	a0013c0009t0003 a0013c0009t0003	a0013c0009t0003g0212 a0013c0009t0003g0212	1	352	0.0028	185	c.839 others(202): Show c.839-4351_839-4350insCCTCCCTCCCTCCTTCCTTCCCTCCTTC CCTCCCTCCCTTCTTCCTTCCCTTCTTCCTTTCCTCCTTCCTTTTCTCCT TCCCTCCCTCCCTCCTTCCCTTCTTCCTTCCCTCCCTCCCTCCTTCCTTC CTTCCTTCTTCCCTTTCTCCTTCCCTCCTTCCCTCCCTCCCTCACTCCCT CCCTCCT	ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	6/38			chr20	TogoVar
ARHGAP10_chr4_147727088_148077776	147784805	T T	TAATATAT others(178): Show TAATATATTATAAAATATATATTATAAATATAATATATTATAAAATATAT ATTATAAATATAATATATTATAAAATATATATTATAAATATATTATAAAA TATATATTATAAATATATTATAAAATATATATTATAAATATATTATAAAA TATATATTATAAATATATTATAAAATATATATTATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0008 a0001c0009t0001g0008	1	106	0.0094	185	c.155 others(204): Show c.155-37891_155-37890insATATATTATAAAATATATATTATAAA TATAATATATTATAAAATATATATTATAAATATATTATAAAATATATATT ATAAATATATTATAAAATATATATTATAAATATATTATAAAATATATATT ATAAATATATTATAAAATATATATTATAAATATATTATAAAATATATATT ATAAATATA	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(178): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCTCCCCCTCCCTCTCCCCCTCCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCCCCCTCCCTCCCCCTCCCCCTCCCC CTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	264	0.0038	185	c.102 others(202): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTCCCCCTCCCTCTCC CCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCC TCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASAP1_chr8_130047104_130448674	130049373	G G	GGGCAGAG others(178): Show GGGCAGAGGAGAATACATGGGGGCAGAGGAGAACACATGGAGGGCAGAGG GGAATACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACAT GGAGGGCAGAGGGGAATACATGGGGGCAGAGGAGAACACATGGGGGGCAG AGGAGAACACATGGAGGGCAGAGGGGAATACATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0006 a0001c0001t0009g0006	1	308	0.0033	185	c.53 others(196): Show c.5357_*5358insTCCATGTATTCCCCTCTGCCCTCCATGTGTTCTC CTCTGCCCCCCATGTGTTCTCCTCTGCCCCCATGTATTCCCCTCTGCCCT CCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCATGTATT CCCCTCTGCCCTCCATGTGTTCTCCTCTGCCCCCATGTATTCTCCTCTGC C	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2730		chr8	TogoVar
ASB5_chr4_176208673_176274222	176218508	G G	GATATATA others(178): Show GATATATAAATATATATATTTGTATGATATATAAATATATATATTTGTAT GATATACAAATATATATTTGTATGATATATAAATATATATATTTGTATGA TATATAAATATATATATTTGTATGATATATAAATATATATATTTGTATGA TATATAAATATATATATATTTGTATGATATATAAAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	410	0.0024	185	c.671 others(202): Show c.671-1500_671-1499insATTTATATATCATACAAATATATATATA TTTATATATCATACAAATATATATATTTATATATCATACAAATATATATA TTTATATATCATACAAATATATATATTTATATATCATACAAATATATATT TGTATATCATACAAATATATATATTTATATATCATACAAATATATATATT TATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASCC1_chr10_72091032_72221276	72198311	G G	GGAGGGGG others(178): Show GGAGGGGGAAGGAGATGGGGGAGGGCAGACGGAGGGGGGACGGGGAGGGA AGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGAGGGGGAGGGGGAGGGGA GGGGGAGGAGAGGGGGATGGGAGGGGGACGGGAGGGGACGGGGAGGGGAG GGGGAGGGGAGGGGAGATGGGAGGGGAGGGGAGGGT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0002 a0011c0010t0002	a0011c0010t0002g0026 a0011c0010t0002g0026	1	216	0.0046	185	c.311 others(202): Show c.311-1323_311-1322insACCCTCCCCTCCCCTCCCATCTCCCCTC CCCTCCCCCTCCCCTCCCCGTCCCCTCCCGTCCCCCTCCCATCCCCCTCT CCTCCCCCTCCCCTCCCCCTCCCCCTCCCATCCCCCTCCCCTCCTCTTCC CTCCCCCTTCCCTCCCCGTCCCCCCTCCGTCTGCCCTCCCCCATCTCCTT CCCCCTC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ATP13A3_chr3_194397677_194492002	194421153	A A	AGTTTATA others(178): Show AGTTTATATATATATACTATATATATAGTTTATATATATATATACTATAT ATATAGTTTATATATATATACTATATATATAGTTTATATATATACTATAT ATATAGTTTATATATATATACTATATATATAGTTTATATATATATACTAT ATATATAGTTTATATATATATACTATATATATAGTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0178 a0001c0001t0021g0178	1	304	0.0033	185	c.331 others(204): Show c.3314-1187_3314-1186insAACTATATATATAGTATATATATATA AACTATATATATAGTATATATATATAAACTATATATATAGTATATATATA TAAACTATATATATAGTATATATATAAACTATATATATAGTATATATATA TAAACTATATATATAGTATATATATATATAAACTATATATATAGTATATA TATATAAAC	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
B4GALNT3_chr12_454939_568509	465813	G G	GCCTGCCA others(178): Show GCCTGCCACTCCCTGTCCTGGGAGTTGAGGTCCCATTCCCCTGCTTGATG GTGCTGGGGCTGCCTGCCACTCCCTGTCCTGGGGGTTGAGGTCCCGTTCC CCTGCTTGATGGTCCTGGGGCTGCCTGCCACACTCCCTGTTCTGGGAGTT GAGGTCCCATTCCCCTGCTTGATGGTGATGGGGTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0029 a0003c0004t0029	a0003c0004t0029g0300 a0003c0004t0029g0300	1	394	0.0025	185	c.169 others(202): Show c.169+5362_169+5363insGTTCCCCTGCTTGATGGTCCTGGGGCTG CCTGCCACACTCCCTGTTCTGGGAGTTGAGGTCCCATTCCCCTGCTTGAT GGTGATGGGGTTTCCTGCCACTCCCTGTCCTGGGAGTTGAGGTCCCATTC CCCTGCTTGATGGTGCTGGGGCTGCCTGCCACTCCCTGTCCTGGGGGTTG AGGTCCC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(178): Show TTATATATATTATATATATATTTATATATATATATAATATATATATTTTT ATATATATATATTATATATATATTTATATATATATATTATATATATATTT ATATATATATATATATTATATATATTTATATATATATATATTATATATAT ATTTATATATATATATATTATATATATATTTATATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0042 a0005c0005t0001g0042	1	216	0.0046	185	c.-2- others(202): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATATAAATATATATATAATATATATATATATAAATATATATAATATATAT ATATATATAAATATATATATAATATATATATATAAATATATATATAATAT ATATATATAAAAATATATATATTATATATATATATAAATATATATATAAT ATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
C1orf21_chr1_184382029_184634019	184410627	A A	ATATAATA others(178): Show ATATAATATATATATATAATATATATATATAATATATATATATTATATAT ATATAATATATATATATATATAATATATATATATTATATATATATATAAT ATATATATATTATATATATATATAATATATATATATTATATATATATATA ATATATATATATTATATATATATTATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0021 a0001c0001t0022g0021	1	232	0.0043	185	c.-12 others(206): Show c.-125+23263_-125+23264insATATATATATATAATATATATATA TAATATATATATATTATATATATATAATATATATATATATATAATATATA TATATTATATATATATATAATATATATATATTATATATATATATAATATA TATATATTATATATATATATAATATATATATATTATATATATATTATATA TATATATTATA	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C2CD4C_chr19_400445_414147	410763	G G	GTCCTGGG others(178): Show GTCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCT GTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCT GCTGGGCACGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCACGGAT CCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0041 a0001c0001t0027g0041	1	322	0.0031	185	c.-17 others(196): Show c.-1799_-1798insTCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCA GGATCCGTGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGTGCCCA GCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGG ACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGG A	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1617		chr19	TogoVar
C2CD4C_chr19_400445_414147	410763	G G	GTCCTGGG others(178): Show GTCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCT GTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACTGCCCCT GCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGAT CCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0014 a0014	a0014c0027 a0014c0027	a0014c0027t0009 a0014c0027t0009	a0014c0027t0009g0148 a0014c0027t0009g0148	1	322	0.0031	185	c.-17 others(196): Show c.-1799_-1798insTCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCA GGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCA GCAGGGGCAGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGG ACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGG A	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1617		chr19	TogoVar
C2CD4C_chr19_400445_414147	410934	C C	CCTGCTGG others(178): Show CCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGAACG GATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTC TGTCCACCGCCCCTGCTGGGCTCGGATCCTGGGGGTCTGTCCACCGCCAC TGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	322	0.0031	185	c.-19 others(196): Show c.-1970_-1969insAGACGGTGGACAGACCCCCAGGATCCGGGCCCAG CAGTGGCGGTGGACAGACCCCCAGGATCCGAGCCCAGCAGGGGCGGTGGA CAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGATCCCCAGGA TCCGTTCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCA G	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1788		chr19	TogoVar
C2CD4C_chr19_400445_414147	410944	C C	CCGGATCC others(178): Show CCGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGG GTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGC CCCTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCAC GGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0005 a0009c0017t0005	a0009c0017t0005g0159 a0009c0017t0005g0159	1	322	0.0031	185	c.-19 others(196): Show c.-1980_-1979insTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGAT CCGTGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGGGCCCAGCAG GGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCC G	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1798		chr19	TogoVar
C2CD4C_chr19_400445_414147	410994	G G	GTCTGTCC others(178): Show GTCTGTCCACCGCCCCTACTGGGCACGGATCCTGGGGGTCTGTCCACCGC CCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCC GGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGT CTGTCCACCGCCCCTACTGGGCACGGATCCTGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0008 a0001c0001t0014g0008	1	322	0.0031	185	c.-20 others(196): Show c.-2030_-2029insTCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGAC AGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGAT CCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAG GGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAG A	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1848		chr19	TogoVar
C2CD4C_chr19_400445_414147	411207	A A	ATCCTGGG others(178): Show ATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCT GTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCT GCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGAT CCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA19060.hp2 NA18943.hp2 NA19060.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0005 a0005c0010t0005 a0001c0001t0005 a0005c0010t0005	a0001c0001t0005g0005 a0005c0010t0005g0156 a0001c0001t0005g0005 a0005c0010t0005g0156	2	322	0.0062	185	c.-22 others(196): Show c.-2243_-2242insCCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCA GGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCA GCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGG ACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGG A	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2061		chr19	TogoVar
C2CD4C_chr19_400445_414147	411302	T T	TCACTGCT others(178): Show TCACTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCA CGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGG TCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTC TCTGCTGGGCCCGGATCCTTGGGGTCTGTCCACCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 NA20300.hp1 HG02970.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0040 a0001c0001t0033g0040	2	322	0.0062	185	c.-23 others(196): Show c.-2338_-2337insGTGGTGGACAGACCCCAAGGATCCGGGCCCAGCA GAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACA GACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATC CGTGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGT G	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2156		chr19	TogoVar
C2CD4C_chr19_400445_414147	411304	T T	TCTGCTGG others(178): Show TCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACG GATCCTGGGGGTCTGTCCACCGCCCCTACTGGGCACGGATCCTGGGGGTC TGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTC TGCTGGGCCTGGATCCTTGGGGTCTGTCCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0008 a0001c0001t0014g0008	1	322	0.0031	185	c.-23 others(196): Show c.-2340_-2339insGGGTGGTGGACAGACCCCAAGGATCCAGGCCCAG CAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGA CAGACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGA TCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCA G	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2158		chr19	TogoVar
C7orf50_chr7_992006_1143247	1031657	G G	GCAGAGAC others(178): Show GCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGACCAGAGACCTGCA GGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTGCAGGGAGGGCAGAGT GGTCCGGGGGGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGGGC AGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0030 a0001c0001t0006g0064 a0001c0001t0006g0030 a0001c0001t0006g0064	2	326	0.0061	185	c.130 others(204): Show c.130-21515_130-21514insGTCCCCCGGACCACTCTGCCCTCCCT GCAGGTCTCTGCCCCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCC CCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCGCCCCGGACCACT CTGCCCTCCCTGCAGGTCTCTGGTCCCCCGGACCACTCTGCCCTCCCTGC AGGTCTCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1031657	G G	GCAGAGAC others(178): Show GCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGGGCAGAGACCTGCA GGGAGGGCAGAGTGGTCCGGGGGGGCAGAGACCTGCAGGGAGGGCAGAGT GGTCCGGGGGGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGCGGC AGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG02109.hp2 others(9): Show HG00639.hp2 HG01109.hp2 HG02109.hp2 HG02622.hp2 HG02809.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03516.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020	a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0263 others(9): Show a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0263 a0001c0001t0005g0297 a0001c0001t0005g0308 a0001c0001t0008g0116 a0001c0001t0014g0158 a0001c0001t0014g0172 a0001c0001t0014g0174 a0001c0001t0019g0324 a0001c0001t0019g0325 a0001c0001t0020g0001	12	326	0.0368	185	c.130 others(204): Show c.130-21515_130-21514insGTCCCCCGGACCACTCTGCCCTCCCT GCAGGTCTCTGCCGCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCC CCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCCCCCCGGACCACT CTGCCCTCCCTGCAGGTCTCTGCCCCCCCGGACCACTCTGCCCTCCCTGC AGGTCTCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(178): Show TTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTCTTTCTTTCTTTCTCT TTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCTC TCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG06807.hp1 HG01070.hp2 HG06807.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0064 a0002c0002 a0005c0064	a0002c0002t0003 a0005c0064t0001 a0002c0002t0003 a0005c0064t0001	a0002c0002t0003g0090 a0005c0064t0001g0034 a0002c0002t0003g0090 a0005c0064t0001g0034	2	218	0.0092	185	c.573 others(204): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAG AAAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA AGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221234	C C	CTTTCTTT others(178): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTCTTTCTTTC TCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCT CTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18964.hp2 HG02056.hp1 NA18964.hp2	a0013 a0042 a0013 a0042	a0013c0014 a0042c0060 a0013c0014 a0042c0060	a0013c0014t0046 a0042c0060t0002 a0013c0014t0046 a0042c0060t0002	a0013c0014t0046g0176 a0042c0060t0002g0124 a0013c0014t0046g0176 a0042c0060t0002g0124	2	218	0.0092	185	c.573 others(204): Show c.5731+3432_5731+3433insAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAGAAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAA GAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2462271	T T	TGCACACT others(178): Show TGCACACTTCCTCGGCACCCCCTCGGCTCAGCTCTCATACAGGCCTGCGC ACCTCCTCGGCCCGCCCCTTGGCTCAGCTCTCCATACAGGCCTGCGCATC TCCTCGGCGCCCCCTTGGCTCAGCTCTCTGCACAGGCCTGCGCACCTCCT TGGCCCCCACCTCGGCTCAGCTCTCCATACAGGCCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03486.hp2 HG01496.hp2 HG03486.hp2	a0001 a0003 a0001 a0003	a0001c0037 a0003c0027 a0001c0037 a0003c0027	a0001c0037t0007 a0003c0027t0011 a0001c0037t0007 a0003c0027t0011	a0001c0037t0007g0100 a0003c0027t0011g0013 a0001c0037t0007g0100 a0003c0027t0011g0013	2	104	0.0192	185	c.757 others(202): Show c.757+4646_757+4647insCATACAGGCCTGCGCATCTCCTCGGCGC CCCCTTGGCTCAGCTCTCTGCACAGGCCTGCGCACCTCCTTGGCCCCCAC CTCGGCTCAGCTCTCCATACAGGCCCGCACACTTCCTCGGCACCCCCTCG GCTCAGCTCTCATACAGGCCTGCGCACCTCCTCGGCCCGCCCCTTGGCTC AGCTCTC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	5/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1I_chr22_39565753_39694735	39596314	T T	TGGGGGAG others(178): Show TGGGGGAGCAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGGGAGATGGG GGGGCAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGGGAGATGGGGGGG CAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGGGAGATGGGGGGGCAGG GCGGAGAGAGATGGGGGGGCAGGGCGGAGGGAGATG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0230 a0001c0002t0002g0230	1	236	0.0042	185	c.237 others(202): Show c.237-1832_237-1831insAGCAGGGCGGAGAGAGATGGGGGGGCAG GGCGGAGGGAGATGGGGGGGCAGGGCGGAGAGAGATGGGGGGGCAGGGCG GAGGGAGATGGGGGGGCAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGG GAGATGGGGGGGCAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGGGAGA TGGGGGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39596319	G G	GGGCAGGG others(178): Show GGGCAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGAGAGATGGGGGAGC AGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGAGAGATGGGGGGGCAGGG CGGAGGGAGATGGGGGGGCAGGGCGGAGGGAGATGGGGGGGCAGGGCGGA GGGAGATGGGGGGGCAGGGCGGAGGGAGATGGGGGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01169.hp2 HG01515.hp1 HG00733.hp2 HG01169.hp2 HG01515.hp1	a0004 a0020 a0004 a0020	a0004c0007 a0020c0054 a0004c0007 a0020c0054	a0004c0007t0014 a0004c0007t0042 a0020c0054t0018 a0004c0007t0014 a0004c0007t0042 a0020c0054t0018	a0004c0007t0014g0207 a0004c0007t0042g0181 a0020c0054t0018g0178 a0004c0007t0014g0207 a0004c0007t0042g0181 a0020c0054t0018g0178	3	236	0.0127	185	c.237 others(202): Show c.237-1831_237-1830insGCAGGGCGGAGAGAGATGGGGGGGCAGG GCGGAGAGAGATGGGGGAGCAGGGCGGAGAGAGATGGGGGGGCAGGGCGG AGAGAGATGGGGGGGCAGGGCGGAGGGAGATGGGGGGGCAGGGCGGAGGG AGATGGGGGGGCAGGGCGGAGGGAGATGGGGGGGCAGGGCGGAGGGAGAT GGGGGAG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGGGGG others(178): Show GAAGGGGGAGGAAGGGGGAGGAAGTGGGAGGAAGGGGGAGGAAATGGGAG GAAGGGGGGGGAAGCGGGAGGAAGGGGGAGGAAGGGGGAAGCGGGAGGAA GGGGGGGGAAGGGGGAGGAAGGGGGGAGGAAGGGGGGGAAGCGGGAGGAA GGGGAAGGAAGGGGGAGGAAGGGGGTAAGGGGGGGT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	234	0.0043	185	c.207 others(202): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCCTTCCTCCCCCCTTCCTCCCCCTT CCCCCCCCTTCCTCCCGCTTCCCCCTTCCTCCCCCTTCCTCCCGCTTCCC CCCCCTTCCTCCCATTTCCTCCCCCTTCCTCCCACTTCCTCCCCCTTCCT CCCCCTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CACNG6_chr19_53986637_54017666	53990519	C C	CCAGGAGT others(178): Show CCAGGAGTCCAGGCCCCCAGTCCCTCCTCCCTCAGACCCAGGAGCCCAGG CCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTC CTCCCTCAGACACAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCC AGGAGTCCAGGCCCCCAGCACCTCCTCCTTCAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02572.hp2 HG02922.hp1 HG01109.hp2 HG02572.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0012g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0012g0082	3	430	0.0070	185	c.-23 others(196): Show c.-2359_-2358insCAGGAGTCCAGGCCCCCAGTCCCTCCTCCCTCAG ACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCA GGCCCCCAGCCCCTCCTCCCTCAGACACAGGAGCCCAGGCCCCCAGCCCC TCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCACCTCCTCCTTCAGAC A	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		1117		chr19	TogoVar
CACNG8_chr19_53957937_53995215	53990519	C C	CCAGGAGT others(178): Show CCAGGAGTCCAGGCCCCCAGTCCCTCCTCCCTCAGACCCAGGAGCCCAGG CCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTC CTCCCTCAGACACAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCC AGGAGTCCAGGCCCCCAGCACCTCCTCCTTCAGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02572.hp2 HG02922.hp1 HG01109.hp2 HG02572.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0097 a0001c0001t0043 a0001c0001t0097	a0001c0001t0043g0046 a0001c0001t0043g0189 a0001c0001t0097g0144 a0001c0001t0043g0046 a0001c0001t0043g0189 a0001c0001t0097g0144	3	394	0.0076	185	c.76 others(196): Show c.7670_*7671insCAGGAGTCCAGGCCCCCAGTCCCTCCTCCCTCAG ACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCA GGCCCCCAGCCCCTCCTCCCTCAGACACAGGAGCCCAGGCCCCCAGCCCC TCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCACCTCCTCCTTCAGAC A	CACNG8	ENSG00000142408.7	transcript	ENST00000270458.4	protein_coding		305		chr19	TogoVar
CALY_chr10_133319072_133341896	133333756	G G	GGCGGGAT others(178): Show GGCGGGATAGGATCTGTGGACAGAAGGATCTGAGGGTGAAAGGATCTGAA AGGGGAAGGATCTGAGGGGAAAGCGCCTGAGGAGGGAAGGACCTGAGGGG GAAAAATCTGAGGGCGGAATGATCTGAGAGTGGAAGGCTCTGAACGGGGA AGGATCTGAGGAGGATCAGAAGGGTAAGGATCTGAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02809.hp2 others(15): Show HG02280.hp2 HG02451.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03540.hp1 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0032 others(9): Show a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162	18	250	0.0720	185	c.-21 others(202): Show c.-21+3077_-21+3078insATCAGATCCTTACCCTTCTGATCCTCCT CAGATCCTTCCCCGTTCAGAGCCTTCCACTCTCAGATCATTCCGCCCTCA GATTTTTCCCCCTCAGGTCCTTCCCTCCTCAGGCGCTTTCCCCTCAGATC CTTCCCCTTTCAGATCCTTTCACCCTCAGATCCTTCTGTCCACAGATCCT ATCCCGC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CANT1_chr17_78986716_79014764	79004624	A A	AGAGGGGG others(178): Show AGAGGGGGGTTAGGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAAGGG AGTTAGGGAGAGGGGAGCTAGGGAGAGGGGGGTTAGGGAAGGGGGAGTTA GGGAGGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGATTTAGGGAGGGGG GAGTTAGGGAGAGGAGTTAAGGAGAGGGGAGTTAGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	394	0.0025	185	c.-14 others(204): Show c.-147+5039_-147+5040insCCTAACTCCCCTCTCCTTAACTCCTC TCCCTAACTCCCCCCTCCCTAAATCCCCTCTCCCTAACTCCCCTCCCTAA CTCCCCTCCCTAACTCCCCCTTCCCTAACCCCCCTCTCCCTAGCTCCCCT CTCCCTAACTCCCTTCTCCCTAACTCCCCTCCCTAACTCCCCTCTCCCTA ACCCCCCTC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAPN11_chr6_44153820_44189401	44181785	A A	ACACACAC others(178): Show ACACACACACACACACAGACACAACCACACCACACACACCCAACCACACC ACACTCACACACACACACACACTCACATACAGACACAACCACACCACACA CACACATACACACTCACATACAGACACAACCACACCACACTCACACACAC ATACACACTCACATACAGACACAACCACACGACACT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0014 a0003c0003t0002g0014	2	460	0.0044	185	c.193 others(202): Show c.1938+475_1938+476insCACACAGACACAACCACACCACACACAC CCAACCACACCACACTCACACACACACACACACTCACATACAGACACAAC CACACCACACACACACATACACACTCACATACAGACACAACCACACCACA CTCACACACACATACACACTCACATACAGACACAACCACACGACACTCAC ACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN12_chr19_38725192_38749474	38735877	C C	CGGGGGTT others(178): Show CGGGGGTTCTGCGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCT GCGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGCGGGGC GGGGCGGGCGGGGCGGGCGGGGGCGGGCGGGGCGGGGCGGGGCGGGCGGG GCGGGGCGGGCGGGGCGGGGCGGGGCGGGGCGGGCG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0004 a0012c0020t0004	a0012c0020t0004g0041 a0012c0020t0004g0041	1	342	0.0029	185	c.158 others(202): Show c.1583+232_1583+233insCGCCCGCCCCGCCCCGCCCCGCCCCGCC CGCCCCGCCCCGCCCGCCCCGCCCCGCCCCGCCCGCCCCCGCCCGCCCCG CCCGCCCCGCCCCGCCCGCCCCGCCCCGCCCCGCCCCCAGAACCCCCGCC CCGCCCGCAGAACCCCCGCCCCGCCCCCAGAACCCCCGCCCCGCCCGCAG AACCCCC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(178): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC GTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG04199.hp2 HG02109.hp1 HG04199.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0001 a0001c0006t0001 a0001c0004t0001 a0001c0006t0001	a0001c0004t0001g0347 a0001c0006t0001g0193 a0001c0004t0001g0347 a0001c0006t0001g0193	2	410	0.0049	185	c.-22 others(202): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCC	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(178): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGG GAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0286 a0002c0003t0001g0286	1	364	0.0028	185	c.234 others(202): Show c.234+6868_234+6869insCTTCTTCCTCTCCTTCTCCTTCTCCTTC TTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244621158	A A	ATATATAT others(178): Show ATATATATTATATATAGATATATTTATATAAATATATCTATATATTATAT ATAGATATATTTATATAAATATATCTATATATTATATATAGATATATTTA TATAAATATATCTATATATTATATATAGATATATTTATATAAATATATCT ATATATTATATATAGATATATTTATATAAATATATC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01433.hp2 HG02083.hp1 others(13): Show HG00735.hp2 HG01433.hp2 HG02083.hp1 HG02523.hp2 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG03540.hp1 HG03710.hp2 HG03831.hp1 HG04115.hp1 NA18747.hp1 NA18943.hp1 NA19002.hp1 NA19065.hp2 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0004 a0001c0001 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0006t0002 a0002c0004t0002	a0001c0001t0001g0109 a0001c0001t0002g0010 a0001c0001t0002g0061 others(13): Show a0001c0001t0001g0109 a0001c0001t0002g0010 a0001c0001t0002g0061 a0001c0001t0002g0118 a0001c0001t0002g0123 a0001c0001t0002g0134 a0001c0001t0002g0206 a0001c0001t0003g0072 a0001c0001t0004g0151 a0001c0001t0004g0163 a0001c0001t0004g0166 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0006t0002g0084 a0001c0006t0002g0085 a0002c0004t0002g0023	16	206	0.0777	185	c.264 others(204): Show c.2648+3501_2648+3502insAATATATCTATATATTATATATAGAT ATATTTATATAAATATATCTATATATTATATATAGATATATTTATATAAA TATATCTATATATTATATATAGATATATTTATATAAATATATCTATATAT TATATATAGATATATTTATATAAATATATCTATATATTATATATAGATAT ATTTATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244621158	A A	ATATATAT others(178): Show ATATATATTATATATAGATATATTTATATAAATATATCTATATATTATAT ATAGATATATTTATATAAATATATCTATATGTTATATATAGATATATTTA TATAAATATATCTATATATTATATATAGATATATTTATATAAATATATCT ATATATTATATATAGATATATTTATATAAATATATC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19056.hp2 NA19062.hp2 others(1): Show NA18982.hp2 NA19056.hp2 NA19062.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0126 others(1): Show a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0126 a0001c0001t0004g0167	4	206	0.0194	185	c.264 others(204): Show c.2648+3501_2648+3502insAATATATCTATATATTATATATAGAT ATATTTATATAAATATATCTATATGTTATATATAGATATATTTATATAAA TATATCTATATATTATATATAGATATATTTATATAAATATATCTATATAT TATATATAGATATATTTATATAAATATATCTATATATTATATATAGATAT ATTTATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCR6_chr6_167118096_167144141	167130970	G G	GGGCCCCC others(178): Show GGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGG ACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCC CCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTC CCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0148 a0001c0002t0003g0148	1	460	0.0022	185	c.-97 others(202): Show c.-97-5066_-97-5065insCCCCCCTCCCTCCGGGACTCCTCCCTCT GGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGG ACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCC CCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTC CCTCTGG	CCR6	ENSG00000112486.18	transcript	ENST00000341935.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDC5L_chr6_44382706_44455425	44391076	A A	ATTATATA others(178): Show ATTATATATTAAACATATTTAATATGTTATATATTATATATTAAACATAT TTAATATGTTATATATTATATATTAAACATATTTAATATGTTATATATTA TATATTAAACATATTTAATATGTTATATATTATATATTAAACATATTTAA TATGTTATATATTATATATTAAACATATTTAATATG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0294 a0001c0002t0027g0294	1	352	0.0028	185	c.149 others(200): Show c.149+720_149+721insATTTAATATGTTATATATTATATATTAAAC ATATTTAATATGTTATATATTATATATTAAACATATTTAATATGTTATAT ATTATATATTAAACATATTTAATATGTTATATATTATATATTAAACATAT TTAATATGTTATATATTATATATTAAACATATTTAATATGTTATATATTA AACAT	CDC5L	ENSG00000096401.8	transcript	ENST00000371477.4	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP72_chr5_607340_658553	650083	C C	CGTGGACT others(178): Show CGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGT GAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGA CTGAGGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGAC TGTGAGGCATGGACTGTGAGGCGTGGACTGTGAGGT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19065.hp1 NA18971.hp1 NA19065.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0002 a0004c0004t0003g0002	2	91	0.0220	185	c.177 others(204): Show c.1778+2170_1778+2171insGACTGTGAGGTGTGACTGTGAGGCGT GGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAG GCGTGGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGTGACTGTGAGG CGTGGACTGTGAGGTGTGACTGTGAGGCATGGACTGTGAGGCGTGGACTG TGAGGTGTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CERT1_chr5_75372775_75516629	75503873	T T	TTGTTTAA others(178): Show TTGTTTAATTTAAATTAAACATTTAAATTAAATGTTTAATTTAAATTAAA CATTTAAATTAAATGTTTAATTTAAATTAAACATTTAAATTAAATGTTTA ATTTAAATTAAACATTAAATTTTTTGTTTAATTTAAATTAAACATTTAAA TTAAATGTTTAATTTAAATTAAACATTTAAATTAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0007 a0001c0002t0020g0007	1	336	0.0030	185	c.231 others(202): Show c.231+2108_231+2109insTTTAATTTAAATGTTTAATTTAAATTAA ACATTTAATTTAAATGTTTAATTTAAATTAAACAAAAAATTTAATGTTTA ATTTAAATTAAACATTTAATTTAAATGTTTAATTTAAATTAAACATTTAA TTTAAATGTTTAATTTAAATTAAACATTTAATTTAAATGTTTAATTTAAA TTAAACA	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar

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