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
ZNF611_chr19_52697813_52740044	52732292	A A	ATAACTCA others(182): Show ATAACTCACAGTATTGAGTTATTCTGAGTAACTCACAGTATTGAGTTATT CTGAGTAACTCACAGTATTGAGTTATTCTGAGTAACTCACAGTATTGAGT TATTCTGAGTAACTCACAGTATTGAGTTATTCTGAGTAACTCACAGTATT GAGTTATTCTGAGTAACTCACAGTATTGAGTTATTCTGAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01106.hp1 HG02896.hp1 others(2): Show HG00639.hp1 HG01106.hp1 HG02896.hp1 NA19030.hp1 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0018 a0002c0002 a0002c0018	a0002c0002t0001 a0002c0018t0001 a0002c0002t0001 a0002c0018t0001	a0002c0002t0001g0001 a0002c0018t0001g0054 a0002c0002t0001g0001 a0002c0018t0001g0054	5	394	0.0127	189	c.-22 others(208): Show c.-221-2288_-221-2287insCTCAGAATAACTCAATACTGTGAGTT ACTCAGAATAACTCAATACTGTGAGTTACTCAGAATAACTCAATACTGTG AGTTACTCAGAATAACTCAATACTGTGAGTTACTCAGAATAACTCAATAC TGTGAGTTACTCAGAATAACTCAATACTGTGAGTTACTCAGAATAACTCA ATACTGTGAGTTA	ZNF611	ENSG00000213020.10	transcript	ENST00000652185.1	protein_coding	1/5			chr19	TogoVar
ZNF611_chr19_52697813_52740044	52732319	A A	ATAACTCA others(182): Show ATAACTCACAGTATTGAGTTATTCTGAGTAACTCACAGTATTGAGTTATT CTGAGTAACTCACAGTATTGAGTTATTCTGAGTAACTCACAGTATTGAGT TATTCTGAGTAACTCACAGTATTGAGTTATTCTGAGTAACTCACAGTATT GAGTTATTCTGAGTAACTCACAGTATTGAGTTATTCTGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01928.hp1 NA18975.hp2 HG01243.hp2 HG01928.hp1 NA18975.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0005g0005 a0002c0002t0001g0001 a0001c0001t0005g0005 a0002c0002t0001g0001	3	272	0.0110	189	c.-22 others(208): Show c.-221-2315_-221-2314insCTCAGAATAACTCAATACTGTGAGTT ACTCAGAATAACTCAATACTGTGAGTTACTCAGAATAACTCAATACTGTG AGTTACTCAGAATAACTCAATACTGTGAGTTACTCAGAATAACTCAATAC TGTGAGTTACTCAGAATAACTCAATACTGTGAGTTACTCAGAATAACTCA ATACTGTGAGTTA	ZNF611	ENSG00000213020.10	transcript	ENST00000652185.1	protein_coding	1/5			chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975544	T T	TATAAATA others(183): Show TATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAA TATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAGATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	160	0.0063	190	c.130 others(209): Show c.1308+1032_1308+1033insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATAAATAT AAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAAT ATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ACACB_chr12_109111587_109273226	109209936	C C	CACATATA others(183): Show CACATATATGTGTATATATGTGTATACACACATATATGTGTATACACACA CATATGTGTATATATACACACATACATGCATGTGTGTATATATGTGTATA TATACACACATACATGCATGTGTGTATATATGTGTATATATACACACATA CGTATGTGTGTATATATACACACGTACGTATGTGTGTATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02083.hp2 HG02040.hp2 HG02083.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0158 a0003c0001t0001g0264 a0003c0001t0001g0158 a0003c0001t0001g0264	2	216	0.0093	190	c.324 others(207): Show c.3249+584_3249+585insCATATATGTGTATATATGTGTATACACA CATATATGTGTATACACACACATATGTGTATATATACACACATACATGCA TGTGTGTATATATGTGTATATATACACACATACATGCATGTGTGTATATA TGTGTATATATACACACATACGTATGTGTGTATATATACACACGTACGTA TGTGTGTATATA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210116	T T	TACGTATA others(183): Show TACGTATATACACACGTGTGTATATACGTATATACACACGTGTGTATATA CGTATATACACACGTGTGTATATACGTATATACACACGTGTGTATATACA CGTACATATGTGTATATATGTGTATATACACACGTACATATGTGTATATA TACACACGTGTGTGTATATATGTGTATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0038 a0038	a0038c0093 a0038c0093	a0038c0093t0001 a0038c0093t0001	a0038c0093t0001g0160 a0038c0093t0001g0160	1	293	0.0034	190	c.324 others(207): Show c.3249+765_3249+766insGTATATACACACGTGTGTATATACGTAT ATACACACGTGTGTATATACGTATATACACACGTGTGTATATACGTATAT ACACACGTGTGTATATACACGTACATATGTGTATATATGTGTATATACAC ACGTACATATGTGTATATATACACACGTGTGTGTATATATGTGTATATGT GTATATATACAC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1289489	T T	TCCCCCGT others(183): Show TCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCATTCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0027 a0001c0005t0002g0027	1	253	0.0040	190	c.40 others(201): Show c.4074_*4075insGGACGGAGCAGGGACACGGGGGACGGAGCAGAGA CACGGGGGACGGAGCAGAGACACGGGGAATGGAGCAGAGACACGGGACGG GGCAGAGACACGGGACGGAGCAGACACGGGGGACGGAGCAGAGACACGGG GAATGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGACA CGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2901		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289533	C C	CTCTGCCC others(183): Show CTCTGCCCCGTCCCGTGTCTCTGCTCCATTCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0087 a0001c0005t0002g0087	1	291	0.0034	190	c.40 others(201): Show c.4030_*4031insCACGGGGGACGGAGCAGGGACACGGGGGACGGAG CAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGACACGGGGGAC GGAGCAGAGACACGGGGGACGGAGCAGGGACACGGGGGACGGAGCAGAGA CACGGGGGACGGAGCAGAGACACGGGGAATGGAGCAGAGACACGGGACGG GGCAGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2857		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289622	T T	TCTCTGCC others(183): Show TCTCTGCCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCGGCCCGTCCCCGTGTCTCTGCCCCGTCCCGTGTCTC TGCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0167 a0001c0001t0012g0167	1	294	0.0034	190	c.39 others(201): Show c.3941_*3942insCACGGGGGACGGGGCAGAGACACGGGACGGGGCA GAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGG ACGGGCAGAGACACGGGACGGGGCAGAGACACGGGGACGGGCCGCAGAGA CACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGGG GCAGAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2768		chr1	TogoVar
ACOT1_chr14_73532143_73548796	73546924	T T	TAAAAATA others(183): Show TAAAAATACAAAAATTTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGA GCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01261.hp2 HG01928.hp1 others(2): Show HG00741.hp2 HG01261.hp2 HG01928.hp1 HG02683.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	131	0.0382	190	c.32 others(201): Show c.3269_*3270insAAAAATACAAAAATTTAGCCGGGCGAGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCC AGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAA	ACOT1	ENSG00000184227.8	transcript	ENST00000311148.9	protein_coding		3129		chr14	TogoVar
ACTN4_chr19_38642649_38736589	38735972	C C	CGGGGCGG others(183): Show CGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGG CGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGG CGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGGGTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0003 a0001c0015t0003	a0001c0015t0003g0247 a0001c0015t0003g0247	1	275	0.0036	190	c.65 others(201): Show c.6540_*6541insGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGTG GTTCTGCGGGCGGGGCGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGG GTTCTGGGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGG GTTCTGGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCGGGG GTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4384		chr19	TogoVar
ACTRT3_chr3_169761921_169774561	169770930	A A	AATATATA others(183): Show AATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATAT TTATATATCATAAATATATAAAAATTTATATTTATATATCATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATATATAAAAATTTATATTTATATATCATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 NA19240.hp2 HG02572.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0002 a0001c0001t0001g0005	2	79	0.0253	190	c.-14 others(201): Show c.-1411_-1410insATATTTATGATATATAAATATAAATTTTTATATA TTTATGATATATAAATATAAATTTTTATATATTTATGATATATAAATATA AATTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTATGA TATATAAATATAAATTTTTATATATTTATGATATATAAATATAAATTTTT ATATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1370		chr3	TogoVar
ADAMTS15_chr11_130443645_130481645	130458660	G G	GACACAAA others(183): Show GACACAAAGCACCCAACTTACACTTAGGAGATTTCAACTTAACTTGACCG CTCTGAGCTAAACCTAGCCCCAAACCCACTCCACCTTACTACCAGACAAC CTTAGCCAAACCATTTACCCAAATAAAGTATAGGCGATAGAAATTGAAAC CTGGCGCAATAGATATAGTACCGCAAGGGAAAGATGAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	396	0.0025	190	c.958 others(207): Show c.958-2829_958-2828insACACAAAGCACCCAACTTACACTTAGGA GATTTCAACTTAACTTGACCGCTCTGAGCTAAACCTAGCCCCAAACCCAC TCCACCTTACTACCAGACAACCTTAGCCAAACCATTTACCCAAATAAAGT ATAGGCGATAGAAATTGAAACCTGGCGCAATAGATATAGTACCGCAAGGG AAAGATGAAAAA	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	1/7			chr11	TogoVar
ADAMTS17_chr15_99966437_100346975	100314058	C C	CCACCCCA others(183): Show CCACCCCAAACGTCACCATGAAGAAACGTCAGACAAAACCACCCCAAACG TCACCATGAAGAAACGTCAGACAAAACCACCCCAAACGTCACCATGAAGA AACGTCAGACAAAACCACCCCAAACGTCACCATGAAGAAACGTCAGACAA AACCACCCCAAACGTCACCATGAAGAAACGTCAGACAAAAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0008 a0001c0025t0008	a0001c0025t0008g0208 a0001c0025t0008g0208	1	107	0.0093	190	c.616 others(209): Show c.616+16830_616+16831insATTTTGTCTGACGTTTCTTCATGGTG ACGTTTGGGGTGGTTTTGTCTGACGTTTCTTCATGGTGACGTTTGGGGTG GTTTTGTCTGACGTTTCTTCATGGTGACGTTTGGGGTGGTTTTGTCTGAC GTTTCTTCATGGTGACGTTTGGGGTGGTTTTGTCTGACGTTTCTTCATGG TGACGTTTGGGGTG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	3/21			chr15	TogoVar
ADAMTS19_chr5_129455298_129743683	129550024	A A	ATATCTAG others(183): Show ATATCTAGATATACATATACATGTATCTGTATATGTATGTATCTAGATAT ACATATACATGTATCTGTATATGTATGTATCTAGATATACATATACATGT ATCTGTATATGTATGTATCTAGATATACATATACATGTATCTGTATATGT ATGTATCTAGATATACATATACATGTATCTGTATATGTATG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0089 a0002c0002t0016g0089	1	82	0.0122	190	c.132 others(209): Show c.1329-1546_1329-1357dupGTATATGTATGTATCTAGATATACAT ATACATGTATCTGTATATGTATGTATCTAGATATACATATACATGTATCT GTATATGTATGTATCTAGATATACATATACATGTATCTGTATATGTATGT ATCTAGATATACATATACATGTATCTGTATATGTATGTATCTAGATATAC ATATACATGTATCT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
AFF2_chrX_148495617_149005663	148704380	T T	TTATATAT others(183): Show TTATATATATATGTGTGTATATATATATTTATATATATATGTGTGTATAT ATATATTTATATATATGTGTGTATATATATATTTATATATATATGTGTGT ATATATATATTTATATATATGTGTGTATATATATATTTATATATATGTGT GTATATATATATTTATATATATGTGTGTATATATATATTTA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0021 a0001c0001t0049g0021	1	45	0.0222	190	c.104 others(211): Show c.1041+41621_1041+41622insATGTGTGTATATATATATTTATAT ATATATGTGTGTATATATATATTTATATATATGTGTGTATATATATATTT ATATATATATGTGTGTATATATATATTTATATATATGTGTGTATATATAT ATTTATATATATGTGTGTATATATATATTTATATATATGTGTGTATATAT ATATTTATATATATAT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	3/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AHRR_chr5_316714_443285	394247	C C	CCTCCCCT others(183): Show CCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCC TCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCT GGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTG TCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0021 a0006c0006t0021	a0006c0006t0021g0246 a0006c0006t0021g0246	1	203	0.0049	190	c.351 others(209): Show c.351+17557_351+17558insGCCCTCTTGTCTCTCCCCTTTCCTCC CTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGA GCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCT CTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCT CCCTGTGTGCTGGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	394618	C C	CCTCTTGT others(183): Show CCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCTCT CCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCC CTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGA GCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01358.hp1 HG01070.hp2 HG01358.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0056 a0002c0002t0010 a0001c0001t0056 a0002c0002t0010	a0001c0001t0056g0175 a0002c0002t0010g0015 a0001c0001t0056g0175 a0002c0002t0010g0015	2	250	0.0080	190	c.351 others(209): Show c.351+17937_351+17938insGCCCTCTTGTCTCTCCCCTTTCCTCC CTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGA GCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCT CTCCCCTTTCCTCCCTGTGTGCTGGAGCTCTCTTGTCTCTCCCCTTTCCT CCCTGTGTGCTGGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ALG12_chr22_49895229_49923438	49917986	A A	AGCCCCAG others(183): Show AGCCCCAGGTGAGAGGTCCAGCCCCAGGTGAGAGGTCCGGCCCCACGTGG GAGGTCCGGCCCCAGGTGAGGAGCCCGGCCCCAGGTGAGAGGTCCGGCCC CAGGTGAGAGGTCCGGCCCCAGGTGAGAGGTCCGGCCCCAGGTGGGAGGT CCGGCCCCAGGTGGGAGTTCCGGCCCCAGGTGAGGAGCCCG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG01123.hp2 others(21): Show HG00438.hp2 HG00642.hp1 HG01123.hp2 HG01433.hp1 HG01975.hp2 HG02056.hp1 HG02698.hp1 HG03239.hp1 HG03654.hp1 HG03704.hp1 HG04204.hp1 HG04228.hp1 NA18939.hp2 NA18947.hp1 NA18952.hp2 NA18967.hp2 NA18974.hp2 NA18980.hp2 NA18989.hp2 NA18994.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19065.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0014 a0002c0003t0016 others(2): Show a0002c0003t0004 a0002c0003t0014 a0002c0003t0016 a0002c0003t0036 a0002c0003t0037	a0002c0003t0004g0007 a0002c0003t0004g0013 a0002c0003t0004g0054 others(10): Show a0002c0003t0004g0007 a0002c0003t0004g0013 a0002c0003t0004g0054 a0002c0003t0004g0056 a0002c0003t0004g0058 a0002c0003t0004g0059 a0002c0003t0004g0061 a0002c0003t0014g0020 a0002c0003t0014g0053 a0002c0003t0014g0060 a0002c0003t0016g0015 a0002c0003t0036g0057 a0002c0003t0037g0055	24	277	0.0866	190	c.-79 others(205): Show c.-79+276_-79+277insCGGGCTCCTCACCTGGGGCCGGAACTCCCA CCTGGGGCCGGACCTCCCACCTGGGGCCGGACCTCTCACCTGGGGCCGGA CCTCTCACCTGGGGCCGGACCTCTCACCTGGGGCCGGGCTCCTCACCTGG GGCCGGACCTCCCACGTGGGGCCGGACCTCTCACCTGGGGCTGGACCTCT CACCTGGGGC	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	1/9			chr22	TogoVar
ALG12_chr22_49895229_49923438	49917986	A A	AGCCCCAG others(183): Show AGCCCCAGGTGAGAGGTCCAGCCCCAGGTGAGAGGTCCGGCCCCAGGTGG GAGGTCCGGCCCCAGGTGAGGAGCCCGGCCCCAGGTGAGAGGTCCGGCCC CAGGTGAGAGGTCCGGCCCCAGGTGAGAGGTCCGGCCCCAGGTGGGAGGT CCGGCCCCAGGTGGGAGTTCCGGCCCCAGGTGAGGAGCCCG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0028 a0002c0013t0028	a0002c0013t0028g0052 a0002c0013t0028g0052	1	254	0.0039	190	c.-79 others(205): Show c.-79+276_-79+277insCGGGCTCCTCACCTGGGGCCGGAACTCCCA CCTGGGGCCGGACCTCCCACCTGGGGCCGGACCTCTCACCTGGGGCCGGA CCTCTCACCTGGGGCCGGACCTCTCACCTGGGGCCGGGCTCCTCACCTGG GGCCGGACCTCCCACCTGGGGCCGGACCTCTCACCTGGGGCTGGACCTCT CACCTGGGGC	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	1/9			chr22	TogoVar
ANKLE2_chr12_132720503_132766832	132732918	C C	CCCGGTGT others(183): Show CCCGGTGTCTGATATGCGCCGTGTGAAGCGCTCTGCGTCCCGGTGTCTGA TATGCGCCGTGTGAAGCGCTCTGTGTCCTGGTGTGTGACATGCGCCGTGT GAAGCGCTCTGCGTCCCGGTGTCTGATATGCACCGTGTGAAGCTCTGTGC GTCCTGGTGTCTGATATGCACCGTGTGAAGCTCTCTGAGTG	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19043.hp2 HG03139.hp1 NA19043.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0126 a0001c0011t0002g0137 a0001c0011t0002g0126 a0001c0011t0002g0137	2	347	0.0058	190	c.189 others(209): Show c.1891+1466_1891+1467insCACTCAGAGAGCTTCACACGGTGCAT ATCAGACACCAGGACGCACAGAGCTTCACACGGTGCATATCAGACACCGG GACGCAGAGCGCTTCACACGGCGCATGTCACACACCAGGACACAGAGCGC TTCACACGGCGCATATCAGACACCGGGACGCAGAGCGCTTCACACGGCGC ATATCAGACACCGG	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	10/12			chr12	TogoVar
ANKRD11_chr16_89262630_89495561	89400449	A A	ACGGTCAT others(183): Show ACGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGC TGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTT CCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGG GGATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	188	0.0053	190	c.-60 others(209): Show c.-60+17834_-60+17835insGCCCCCAGCGCAGGGAAGCCTGGGGC AGCAGATGACCATCCCCCAGCGCAGGGAAGCCTGGGGCAGCAGATGACCG GCCCCCAGCGCAGGGAAGCCTGGGGCAGCAGATGACCGTCCCCCAGCGCA GGGAAGCCTGGGGCAGCAGATGACCGTCCCCCAGCGCAGGGAAGCCTGGG GCAGCAGATGACCG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89400677	C C	CCGGTCAT others(183): Show CCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGC TGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTT CCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGG GGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02132.hp2 NA18945.hp2 others(8): Show HG00673.hp2 HG02132.hp2 NA18945.hp2 NA18950.hp1 NA18964.hp2 NA18980.hp2 NA18984.hp1 NA19010.hp1 NA19056.hp2 NA19063.hp2 NA19085.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0041 a0005c0005 a0002c0002 a0002c0041 a0005c0005	a0002c0002t0002 a0002c0041t0002 a0005c0005t0001 a0002c0002t0002 a0002c0041t0002 a0005c0005t0001	a0002c0002t0002g0102 a0002c0002t0002g0105 a0002c0002t0002g0107 others(8): Show a0002c0002t0002g0102 a0002c0002t0002g0105 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0204 a0002c0002t0002g0286 a0002c0041t0002g0104 a0005c0005t0001g0027 a0005c0005t0001g0052 a0005c0005t0001g0067 a0005c0005t0001g0072	11	202	0.0545	190	c.-60 others(209): Show c.-60+17606_-60+17607insTCCCCCAGCGCAGGGAAGCCTGGGGC AGCAGATGACCGGCCCCCAGCGCAGGGAAGCCTGGGGCAGCAGATGACCG GCCCCCAGCGCAGGGAAGCCTGGGGCAGCAGATGACCGGCCCCCAGCGCA GGGAAGCCTGGGGCAGCAGATGACCGGCCCCCAGCGCAGGGAAGCCTGGG GCAGCAGATGACCG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
APOOL_chrX_84998877_85098315	85088055	C C	CATATATA others(183): Show CATATATATGTATAAATACGTATTTATACATATATATGTATAAATACATA CATATTTATACATATATATGTATAAATACATACATATTTATACATATATA TGTATAAATACATACATATTTATACATATATATGTATAAATACATACATA TTTATACATATATATGTATAAATACATACATATTTATACAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0010 a0001c0001t0047g0010	1	254	0.0039	190	c.38 others(199): Show c.383_*384insATGTATAAATACGTATTTATACATATATATGTATAA ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACATACATATTTATACATATATATGTATAAATAC ATACATATTTATACATATATATGTATAAATACATACATATTTATACATAT ATAT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	384	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGAP10_chr4_147727088_148077776	147784805	T T	TAATATAT others(183): Show TAATATATTATAAAATATATATTATAAATATAATATATTATAAAATATAT ATTATAAATATAATATATTATAAAATATATATTATAAATATAATATATTA TAAAATATATATTATAAATATATTATAAAATATATATTATAAATATATTA TAAAATATATATTATAAATATAATATAAAATATATATTATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	66	0.0152	190	c.155 others(209): Show c.155-37891_155-37890insATATATTATAAAATATATATTATAAA TATAATATATTATAAAATATATATTATAAATATAATATATTATAAAATAT ATATTATAAATATATTATAAAATATATATTATAAATATATTATAAAATAT ATATTATAAATATAATATAAAATATATATTATAAATATATTATAAAATAT ATATTATAAATATA	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP6_chrX_11132544_11670920	11590775	C C	CAAACAGA others(183): Show CAAACAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0124 a0001c0003t0001g0124	1	129	0.0078	190	c.588 others(209): Show c.588+73465_588+73466insTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTGTTT	ARHGAP6	ENSG00000047648.23	transcript	ENST00000337414.9	protein_coding	1/12			chrX	TogoVar
ARHGEF10_chr8_1818926_1963641	1839801	A A	ACTGTCTG others(183): Show ACTGTCTGGTGTGGGGACAGTCTGGTGTGGAAGCTGTCAGGTGTGGAAGC TGTCTGGTGGGGACAGTCTGGTGTGGGGACTGTCCGGTGTGGGGACTGTC CGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTG GTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTGGAAG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA19000.hp2 NA19057.hp1 NA18959.hp1 NA19000.hp2 NA19057.hp1	a0001 a0001	a0001c0018 a0001c0115 a0001c0118 a0001c0018 a0001c0115 a0001c0118	a0001c0018t0025 a0001c0115t0004 a0001c0118t0009 a0001c0018t0025 a0001c0115t0004 a0001c0118t0009	a0001c0018t0025g0297 a0001c0115t0004g0281 a0001c0118t0009g0290 a0001c0018t0025g0297 a0001c0115t0004g0281 a0001c0118t0009g0290	3	361	0.0083	190	c.-47 others(207): Show c.-47-3546_-47-3545insGGTGTGGGGACAGTCTGGTGTGGAAGCT GTCAGGTGTGGAAGCTGTCTGGTGGGGACAGTCTGGTGTGGGGACTGTCC GGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGG TGTGGAAGCTGTCTGGTGTGGGGACTGTCCGGTGTGGAAGCTGTCTGGTG TGGAAGCTGTCT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARL10_chr5_176360487_176386909	176371498	G G	GCCTGATA others(183): Show GCCTGATATTCCCGGGGATAGCCTAAGAACAGTGTGTTTCCTGATATTCC CGGGGATAGCCTAAGAACAGTGTGTTTCCTGATATTCCCGGGGATAGCCT AAGAACAGTGTGTTTCCTGATATTCCCGGGGATAGCCTAAGAACAGTGTG TTTCCTGATATTCCCGGGGATAGCCTAAGAACAGTGTGTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0093 a0001c0001t0093g0093	1	135	0.0074	190	c.562 others(203): Show c.562-71_562-70insCTGATATTCCCGGGGATAGCCTAAGAACAGTG TGTTTCCTGATATTCCCGGGGATAGCCTAAGAACAGTGTGTTTCCTGATA TTCCCGGGGATAGCCTAAGAACAGTGTGTTTCCTGATATTCCCGGGGATA GCCTAAGAACAGTGTGTTTCCTGATATTCCCGGGGATAGCCTAAGAACAG TGTGTTTC	ARL10	ENSG00000175414.7	transcript	ENST00000310389.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ASAP1_chr8_130047104_130448674	130049670	A A	AGGGGGAA others(183): Show AGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAA CACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGG GGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGG GGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	281	0.0036	190	c.50 others(201): Show c.5060_*5061insCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATG TGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCC CTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCC CCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGT TCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2433		chr8	TogoVar
ASCC1_chr10_72091032_72221276	72198311	G G	GGAGGGGG others(183): Show GGAGGGGGAAGGAGATGGGGGAGGGCAGACGGGGAGGGGGGACGGGGAGG GAAGGGGGAGGGAAGAGGAGGGGAGGGGGGATGGGAGGGGAGGGGGAGGG GAGGGGGAGGAGAGGGGGGATGGGAGGGGGACGGGGAGGGGACGGGGAGG GGAGGGGGGAGGGGAGGGGAGATGGGAGGGGAGGGGAGGGT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	147	0.0068	190	c.311 others(207): Show c.311-1323_311-1322insACCCTCCCCTCCCCTCCCATCTCCCCTC CCCTCCCCCCTCCCCTCCCCGTCCCCTCCCCGTCCCCCTCCCATCCCCCC TCTCCTCCCCCTCCCCTCCCCCTCCCCTCCCATCCCCCCTCCCCTCCTCT TCCCTCCCCCTTCCCTCCCCGTCCCCCCTCCCCGTCTGCCCTCCCCCATC TCCTTCCCCCTC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASMTL_chrX_1398139_1457909	1453754	A A	AGTGGAGA others(183): Show AGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGG GGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGG CCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGG GGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0013 a0002c0004t0001g0013	1	127	0.0079	190	c.-91 others(199): Show c.-915_-914insGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCC ACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCA CCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGG ACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCT CCAC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding		846		chrX	TogoVar
ATF1_chr12_50759101_50826162	50823622	T T	TATAATAT others(183): Show TATAATATAGATTATATATATAATCTATATTATATATAATATAGATTATA TATATAATCTATATTATATATAATATAGATTATATATATAATCTATATTA TATATATAATCTATATTATATATAATATAGATTATATATATAATCTATAT TATATAATCTATATTATATATAATATAGATTATATAATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	296	0.0034	190	c.38 others(201): Show c.3843_*3844insATAATATAGATTATATATATAATCTATATTATAT ATAATATAGATTATATATATAATCTATATTATATATAATATAGATTATAT ATATAATCTATATTATATATATAATCTATATTATATATAATATAGATTAT ATATATAATCTATATTATATAATCTATATTATATATAATATAGATTATAT AATCTA	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2461		chr12	TogoVar
ATP10A_chr15_25673712_25868327	25758085	A A	ACTCATTC others(183): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCGATCACCTGCTCCACCCTAACTCATTCCGATCACCT GCTCCACCCTAACTCATTCGATCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0274 a0003c0003t0001g0274	1	280	0.0036	190	c.655 others(209): Show c.655-21945_655-21944insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGAAT GAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGAT CGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758085	A A	ACTCATTC others(183): Show ACTCATTCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCA CCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCT GCTCCACCCTAACTCATTCGATCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	280	0.0036	190	c.655 others(209): Show c.655-21945_655-21944insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGAAT GAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGAT CGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCA GGTGATCGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758421	A A	ACTCATTC others(183): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCGATCACCTGCTCCACCCTAACTCATTCCGATCACCT GCTCCACCCTAACTCATTCGATCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19088.hp2 NA19065.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0136 a0001c0014t0001g0135 a0001c0001t0001g0136 a0001c0014t0001g0135	2	287	0.0070	190	c.655 others(209): Show c.655-22281_655-22280insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGAAT GAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGAT CGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758477	A A	ACTCATTC others(183): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCGATCACCTGCTCCACCCTAACTCATTCCGATCACCT GCTCCACCCTAACTCATTCGATCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18988.hp1 NA19007.hp1 others(1): Show NA18970.hp2 NA18988.hp1 NA19007.hp1 NA19091.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0152 others(1): Show a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0152 a0005c0005t0001g0265	4	278	0.0144	190	c.655 others(209): Show c.655-22337_655-22336insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGAAT GAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGAT CGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP6V0E1_chr5_172978771_173040445	173036014	A A	ATTTTTGT others(183): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03516.hp1 HG03130.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0200 a0001c0001t0001g0201	2	291	0.0069	190	c.16 others(201): Show c.1652_*1653insTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTAAT	ATP6V0E1	ENSG00000113732.9	transcript	ENST00000519374.6	protein_coding		570		chr5	TogoVar
ATP8A2_chr13_25366974_26030851	25465737	T T	TTCTTTCT others(183): Show TTCTTTCTTTCTTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTTT CTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0099 a0001c0002t0039g0099	1	62	0.0161	190	c.77- others(205): Show c.77-3238_77-3237insTTTCTTTCTTTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTC TTTCTCTCTTTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCCCTCCCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATRN_chr20_3466018_3656118	3586504	G G	GAAAGAAG others(183): Show GAAAGAAGCCAGGTACAAAAGATTATGCATTGCATGATGCCATTTATATG AAATGTCCAAAGGCAGAAAGTAGATGTTTAGTGGTTTCCTAGGGCTGGGG ATGGAAACAAGGAATAATAGGCATGAGGTTTTCTAGAGTAGCTGCAGTAT TATTTTCTGACATGAATTACCCTAAAAAAACATGCTATGTA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0185 a0001c0007t0003g0185	1	218	0.0046	190	c.318 others(209): Show c.3184+1751_3184+1940dupGTTTTCTAGAGTAGCTGCAGTATTAT TTTCTGACATGAATTACCCTAAAAAAACATGCTATGTAAAAGAAGCCAGG TACAAAAGATTATGCATTGCATGATGCCATTTATATGAAATGTCCAAAGG CAGAAAGTAGATGTTTAGTGGTTTCCTAGGGCTGGGGATGGAAACAAGGA ATAATAGGCATGAG	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	18/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
B4GALNT4_chr11_364499_387117	374823	A A	AAGGGAGG others(183): Show AAGGGAGGGAGGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0103 a0009c0012t0001g0103	1	168	0.0060	190	c.784 others(205): Show c.784-627_784-626insGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	385192	A A	AGGCCTGG others(183): Show AGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCGGGCCTGGAACC CCCACAGCCGGGCAAGACCCACTCCCGGGCCTGGAACCCCCACAGCCGGG CAAGACCCACTCCCGGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTC CCGGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03453.hp2 HG03098.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0167 a0001c0001t0003g0019 a0001c0001t0001g0167 a0001c0001t0003g0019	2	162	0.0123	190	c.34 others(201): Show c.3400_*3401insGGCCTGGAACCCCCACAGCCGGGCAAGACCCACT CCCGGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCGGGCCTGGA ACCCCCACAGCCGGGCAAGACCCACTCCCGGGCCTGGAACCCCCACAGCC GGGCAAGACCCACTCCCGGGCCTGGAACCCCCACAGCCGGGCAAGACCCA CTCCCG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		3076		chr11	TogoVar
B4GALNT4_chr11_364499_387117	385230	A A	AGGCCTGG others(183): Show AGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCGGGCCTGGAACC CCCACAGCCGGGCAAGACCCACTCCCGGGCCTGGAACCCCCACAGCCGGG CAAGACCCACTCCCGGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTC CCGGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG02965.hp1 HG01346.hp1 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0002c0008t0001 a0001c0001t0001 a0002c0008t0001	a0001c0001t0001g0173 a0002c0008t0001g0081 a0001c0001t0001g0173 a0002c0008t0001g0081	2	134	0.0149	190	c.34 others(201): Show c.3438_*3439insGGCCTGGAACCCCCACAGCCGGGCAAGACCCACT CCCGGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCGGGCCTGGA ACCCCCACAGCCGGGCAAGACCCACTCCCGGGCCTGGAACCCCCACAGCC GGGCAAGACCCACTCCCGGGCCTGGAACCCCCACAGCCGGGCAAGACCCA CTCCCG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		3114		chr11	TogoVar
B4GALNT4_chr11_364499_387117	385268	A A	AGGCCTGG others(183): Show AGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCGGGCCTGGAACC CCCACAGCCGGGCAAGACCCACTCCCGGGCCTGGAACCCCCACAGCCGGG CAAGACCCACTCCCGGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTC CCGGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG03579.hp1 HG03669.hp1 others(1): Show HG01943.hp2 HG03579.hp1 HG03669.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0101 a0001c0001t0001g0127 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0101 a0001c0001t0001g0127 a0001c0001t0001g0128	4	110	0.0364	190	c.34 others(201): Show c.3476_*3477insGGCCTGGAACCCCCACAGCCGGGCAAGACCCACT CCCGGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCGGGCCTGGA ACCCCCACAGCCGGGCAAGACCCACTCCCGGGCCTGGAACCCCCACAGCC GGGCAAGACCCACTCCCGGGCCTGGAACCCCCACAGCCGGGCAAGACCCA CTCCCG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		3152		chr11	TogoVar
B4GALNT4_chr11_364499_387117	385268	A A	AGGCCTGG others(183): Show AGGCCTGGAACCCCCACAGCTGGGCAAGACCCACTCCCGGGCCTGGAACC CCCACAGCCGGGCAAGACCCACTCCCGGGCCTGGAACCCCCACAGCCGGG CAAGACCCACTCCCGGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTC CCGGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0174 a0005c0010t0001g0174	1	107	0.0093	190	c.34 others(201): Show c.3476_*3477insGGCCTGGAACCCCCACAGCTGGGCAAGACCCACT CCCGGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCGGGCCTGGA ACCCCCACAGCCGGGCAAGACCCACTCCCGGGCCTGGAACCCCCACAGCC GGGCAAGACCCACTCCCGGGCCTGGAACCCCCACAGCCGGGCAAGACCCA CTCCCG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		3152		chr11	TogoVar
BRSK2_chr11_1384934_1467689	1431912	G G	GTCTGGTC others(183): Show GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCT GGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGGGTCTG GTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0115 a0002c0002t0008g0115	1	344	0.0029	190	c.92- others(205): Show c.92-4128_92-4127insTCTGGTCAGGTTTTGCCACTGTGCCCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGA GCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAG CGTCTTCTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar
BTAF1_chr10_91918770_92036437	92012181	C C	CTCCCCTC others(183): Show CTCCCCTCCTCCCCTCCCCTCCTCTCCCCTCCTCCCCTCCCCTCCTCTCC TCTCCTCCCCTCCCCTCCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT GCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCGT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0136 a0001c0003t0001g0136	1	163	0.0061	190	c.431 others(207): Show c.4311+766_4311+767insTCCCCTCCTCCCCTCCCCTCCTCTCCCC TCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCCTCCTCCCC TCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTGCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCTCCCGT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37			chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012233	C C	CCTCCTCC others(183): Show CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTT CTCCCCTCCCCTTCTCCCCTCCCCTTCTCCCCTCCCCTCCCTTCCCCTCC TCCCCTCCCCTCCCCTCCCCTCCCCCTGTATCTCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	267	0.0037	190	c.431 others(207): Show c.4311+822_4311+823insTCCCCTCCCCTCCTCCCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCCCTTCTCCCCTCCCCTTCTCCCCTCCCCTTCTCCCCT CCCCTCCCTTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCCTGTATCT CCTCCCCTCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
C17orf99_chr17_78141385_78171297	78143074	A A	ACAGGTTC others(183): Show ACAGGTTCAAGCCATCCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTAG AGGCACCTACCACCATGCCTGGCTAATTTTTTGTTTTGTTTTGTTTTTGT TTTTGTTTTTGTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGA GTGCAATGGCACGATCTTGGCTCACTGCAACCTCTGCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01516.hp1 HG01884.hp1 others(20): Show HG01074.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG02109.hp1 HG02145.hp2 HG02451.hp2 HG02622.hp2 HG02647.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp1 HG03654.hp2 NA19030.hp2 NA19043.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0005 a0001c0001 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0003c0004t0002 a0004c0005t0001	a0001c0001t0001g0015 a0001c0001t0001g0144 a0001c0001t0001g0145 others(18): Show a0001c0001t0001g0015 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0164 a0001c0001t0002g0090 a0001c0001t0002g0153 a0001c0001t0003g0390 a0001c0001t0003g0391 a0001c0001t0004g0151 a0001c0001t0005g0147 a0001c0001t0005g0154 a0001c0001t0005g0392 a0001c0001t0005g0393 a0001c0001t0005g0394 a0001c0001t0007g0146 a0001c0001t0009g0148 a0001c0001t0009g0150 a0003c0004t0002g0152 a0004c0005t0001g0016 a0004c0005t0001g0017 a0004c0005t0001g0149	23	279	0.0824	190	c.-33 others(201): Show c.-3334_-3333insCAGGTTCAAGCCATCCTCCTGCCTTAGCCTCCTG AGTAGCTGGGACTAGAGGCACCTACCACCATGCCTGGCTAATTTTTTGTT TTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTGAGATGGAGTTTTGCTCTT GTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCT GCCTCC	C17orf99	ENSG00000187997.12	transcript	ENST00000340363.10	protein_coding		3310		chr17	TogoVar
C18orf63_chr18_74310839_74364189	74361916	A A	ATACATAA others(183): Show ATACATAATATAATTAATATTATATATGCATATATTATATAATTTATAAT ATATGCATATATTATATAATTTATAATATATGCATATATTATATAATTAT ATAATATATGCATATATTATATAATTTATAATATATGCATATATTATATA ATTTATAATATATGCATATATTATATAATTTATAATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0156 a0001c0001t0015g0156	1	367	0.0027	190	c.54 others(201): Show c.5469_*5470insTACATAATATAATTAATATTATATATGCATATAT TATATAATTTATAATATATGCATATATTATATAATTTATAATATATGCAT ATATTATATAATTATATAATATATGCATATATTATATAATTTATAATATA TGCATATATTATATAATTTATAATATATGCATATATTATATAATTTATAA TATATG	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2728		chr18	TogoVar
C1orf21_chr1_184382029_184634019	184410627	A A	ATATAATA others(183): Show ATATAATATATATATATTATATATATATATAATATATATATATTATATAT ATATATAATATATATATATTATATATATATATAATATATATATATTATAT ATATATATAATATATATATATTATATATATATAATATATATATATTATAT ATATATAATATATATATAATATATATATATTATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	214	0.0047	190	c.-12 others(211): Show c.-125+23263_-125+23264insATATATATATATTATATATATATA TAATATATATATATTATATATATATATAATATATATATATTATATATATA TATAATATATATATATTATATATATATATAATATATATATATTATATATA TATAATATATATATATTATATATATATAATATATATATAATATATATATA TTATATATATATTATA	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C2orf80_chr2_208160347_208195030	208176973	A A	ATCTGTAT others(183): Show ATCTGTATACAGATGTATACATATCTGTATACAGATGTATACATATCTGT ATACAGATGTATACATATCTGTATACAGATGTATACATATCTGTATACAG ATGTATACATATCTGTATACAGATGTATACATATCTGTATACAGATGTAT ACATATCTGTATACAGATGTATACATATCTGTATACAGATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	283	0.0035	190	c.366 others(207): Show c.366+3771_366+3772insCATCTGTATACAGATATGTATACATCTG TATACAGATATGTATACATCTGTATACAGATATGTATACATCTGTATACA GATATGTATACATCTGTATACAGATATGTATACATCTGTATACAGATATG TATACATCTGTATACAGATATGTATACATCTGTATACAGATATGTATACA TCTGTATACAGA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar

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