Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
ABCA7_chr19_1035107_1070572	1049719	G G	GCCCCCCC others(95): Show GCCCCCCCACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCCCAT GAACCCCCCACCACTCCCTCCCCGTGAACCCCCCCACCACTCCCTCCCCG TGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0008 a0008	a0008c0022 a0008c0022	a0008c0022t0001 a0008c0022t0001	a0008c0022t0001g0004 a0008c0022t0001g0004	1	27	0.0370	102	c.255 others(119): Show c.2552+282_2552+283insCCCCCCCACCACTCCCTCCCCGTGAGGC CCCCCACCACTCCCTCCCCATGAACCCCCCACCACTCCCTCCCCGTGAAC CCCCCCACCACTCCCTCCCCGTGA	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46			chr19	TogoVar
ABCC1_chr16_15944616_16148053	15999858	C C	CTTTCTTT others(95): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0015 a0001c0033t0015	a0001c0033t0015g0098 a0001c0033t0015g0098	1	220	0.0045	102	c.49- others(117): Show c.49-7942_49-7941insTTTCTTTCTTTCTTTCTTTCTTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTCTTTCTTTCTTTC	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC2_chr10_99777640_99857594	99838949	G G	GGGCAGGG others(95): Show GGGCAGGGGGGCCGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0041 a0001c0002t0003g0041	1	334	0.0030	102	c.361 others(121): Show c.3614+2662_3614+2663insAGGGGGGCCGACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCCGGC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABHD5_chr3_43685938_43727725	43700732	C C	CCCAGCTA others(95): Show CCCAGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG GGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02683.hp2 HG02055.hp1 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0018 a0001c0002t0005 a0001c0002t0018	a0001c0002t0005g0158 a0001c0002t0018g0156 a0001c0002t0005g0158 a0001c0002t0018g0156	2	274	0.0073	102	c.133 others(119): Show c.133+1384_133+1385insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGGGACCAGCTAATTTTT	ABHD5	ENSG00000011198.10	transcript	ENST00000644371.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABR_chr17_998519_1184981	1009530	C C	CCACGAGG others(95): Show CCACGAGGAGGGACTGAGGAGGTGGGGTTGGGGCCACTCCCCGTTACCTT TTCACGAGGAGGGACTGAGGAGGTGGGGTTGGGGCCACTCCCCGTTACCT TTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG02523.hp1 others(6): Show HG00280.hp1 HG00609.hp1 HG02523.hp1 NA18940.hp1 NA18995.hp1 NA19012.hp1 NA19063.hp1 NA19066.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0026	a0001c0001t0002g0087 a0001c0001t0002g0150 a0001c0001t0002g0151 others(6): Show a0001c0001t0002g0087 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0004g0259 a0001c0001t0004g0291 a0001c0001t0004g0301 a0001c0001t0012g0092 a0001c0001t0012g0184 a0001c0001t0026g0026	9	335	0.0269	102	c.234 others(119): Show c.2342+148_2342+149insAAAAGGTAACGGGGAGTGGCCCCAACCC CACCTCCTCAGTCCCTCCTCGTGAAAAGGTAACGGGGAGTGGCCCCAACC CCACCTCCTCAGTCCCTCCTCGTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	21/22			chr17	TogoVar
ABR_chr17_998519_1184981	1009569	C C	CCCGTTAC others(95): Show CCCGTTACCTTTTCACGAGGAGGGACTGAGGAGGTGGGGTTGGGGCCACT CCCCGTTACCTTTTCACGAGGAGGGACTGAGGAGGTGGGGTTGGGGCCAC TCA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0251 a0001c0001t0004g0251	1	336	0.0030	102	c.234 others(119): Show c.2342+109_2342+110insTGAGTGGCCCCAACCCCACCTCCTCAGT CCCTCCTCGTGAAAAGGTAACGGGGAGTGGCCCCAACCCCACCTCCTCAG TCCCTCCTCGTGAAAAGGTAACGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	21/22			chr17	TogoVar
ABTB3_chr12_107313434_107664642	107529164	G G	GTGATGAT others(95): Show GTGATGATGGTGATGGTGATGATGATGGTGATGGTGATGATGATGATGGA GATGATGATGGTGATGGTGATAATGATGGAGATGATGATGGTGGTCATGT TGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01175.hp1 HG01433.hp1 others(6): Show HG00140.hp2 HG01175.hp1 HG01433.hp1 HG01884.hp2 HG02280.hp2 HG02895.hp1 HG03471.hp1 HG03471.hp2 NA19030.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0012 a0002c0002 others(1): Show a0001c0001 a0001c0012 a0002c0002 a0010c0022	a0001c0001t0002 a0001c0001t0030 a0001c0012t0001 others(2): Show a0001c0001t0002 a0001c0001t0030 a0001c0012t0001 a0002c0002t0007 a0010c0022t0003	a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0093 others(6): Show a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0093 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0030g0081 a0001c0012t0001g0062 a0002c0002t0007g0175 a0010c0022t0003g0063	9	186	0.0484	102	c.128 others(121): Show c.1285+8585_1285+8686dupATGGTGATGGTGATAATGATGGAGAT GATGATGGTGGTCATGTTGATGATGATGGTGATGGTGATGATGATGGTGA TGGTGATGATGATGATGGAGATGATG	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1288519	C C	CTGCTCCG others(95): Show CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCTGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	293	0.0034	102	c.50 others(113): Show c.5044_*5045insCACGGGACGGAGCAGGGACACGGGACGGAGCAGA CACAGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCA GGGACACGGGACGGAGCA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3871		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289093	C C	CCGTGTCT others(95): Show CCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTC CGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	267	0.0037	102	c.44 others(113): Show c.4470_*4471insACGGAGCAGAGACACGGGACGGAGCAGACACGGG GGACGGAGCAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGGGACA CGGGACGGAGCAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3297		chr1	TogoVar
ACAT2_chr6_159757045_159784112	159769033	T T	TGGGGGGG others(95): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGG	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0108 a0002c0003t0001g0108	1	402	0.0025	102	c.490 others(117): Show c.490+408_490+409insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGG	ACAT2	ENSG00000120437.9	transcript	ENST00000367048.5	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
ACSM2B_chr16_20531226_20581367	20566700	A A	ATATATAG others(95): Show ATATATAGTATATATACTATATATACTATATATAGTATATACTATATATA GTATATACTATATATAGTATATATAGTATATATACTATATATACTATATA TAG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0029 a0005c0016t0029	a0005c0016t0029g0315 a0005c0016t0029g0315	1	157	0.0064	102	c.-8- others(117): Show c.-8-1848_-8-1847insCTATATATAGTATATATAGTATATATACTA TATATACTATATATAGTATATACTATATATAGTATATACTATATATAGTA TATATAGTATATATACTATATA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13			chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20566734	G G	GTATATAC others(95): Show GTATATACTATATATACTATATATAGTATATACTATATATACTATATATA GTATATACTATATATACTATATATAGTATATATAGTATATATAGTATATA CTA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA19081.hp2 NA18990.hp2 NA19081.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0299 a0001c0006t0001g0300 a0001c0006t0001g0299 a0001c0006t0001g0300	2	176	0.0114	102	c.-8- others(117): Show c.-8-1882_-8-1881insTAGTATATACTATATATACTATATATACTA TATATAGTATATATAGTATATACTATATATAGTATATATAGTATATACTA TATATAGTATATATAGTATATA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13			chr16	TogoVar
ACTN4_chr19_38642649_38736589	38736571	A A	AGGGGCGT others(95): Show AGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGG GCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGT CGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0026 a0001c0006t0026	a0001c0006t0026g0237 a0001c0006t0026g0237	1	312	0.0032	102	c.71 others(113): Show c.7139_*7140insGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGG GCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAG GGGAGAGAGGGGCGTCGG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4983		chr19	TogoVar
ADAM9_chr8_38991973_39110261	39045385	G G	GGTGTGTC others(95): Show GGTGTGTCTACACACACCTATATGTACGTGTGTACACACACCTATATGTG CGTGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATG TGC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0256 a0001c0006t0001g0256	1	90	0.0111	102	c.130 others(121): Show c.1302+3274_1302+3275insCTACACACACCTATATGTACGTGTGT ACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGTGT GTACACACACCTATATGTGCGTGTGT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM9_chr8_38991973_39110261	39045385	G G	GGTGTGTC others(95): Show GGTGTGTCTACACACACCTATATGTGCGTGTGTACACACACCTATATGTG CGTGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATG TGC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	90	0.0111	102	c.130 others(121): Show c.1302+3274_1302+3275insCTACACACACCTATATGTGCGTGTGT ACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGTGT GTACACACACCTATATGTGCGTGTGT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS13_chr9_133417367_133464386	133460459	A A	AGGGCGGG others(95): Show AGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGC GGGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGG CGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0155 a0001c0011t0001g0155	1	295	0.0034	102	c.12 others(113): Show c.1279_*1280insGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGG GGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCGGGGGCGGGGGGGCGGCG GGGGCGGGGGGGCGGCGG	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding		1074		chr9	TogoVar
ADAMTS17_chr15_99966437_100346975	100225521	C C	CCTCTGTG others(95): Show CCTCTGTGCCATGCAGTCCTTATAGCAGTCACGGTCTCTGTGCCATTCAG ACCTCACAGCAGTCACGGTCTCTGTGCCATTCAGTCCTTACAGCAGTCAC GGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0051 a0002c0051	a0002c0051t0069 a0002c0051t0069	a0002c0051t0069g0076 a0002c0051t0069g0076	1	225	0.0044	102	c.107 others(123): Show c.1076-26099_1076-26098insACCGTGACTGCTGTAAGGACTGAA TGGCACAGAGACCGTGACTGCTGTGAGGTCTGAATGGCACAGAGACCGTG ACTGCTATAAGGACTGCATGGCACAGAG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	7/21			chr15	TogoVar
ADAMTS18_chr16_77277128_77440034	77334289	T T	TAGTGTTA others(95): Show TAGTGTTATATATTATATATAATATATAGTGTTATATATTATATATAATA TATAGTGTTATATATTATATATAATATAGTGTTATATATTATATATAATA TAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG01891.hp1 others(7): Show HG01109.hp1 HG01884.hp1 HG01891.hp1 HG02145.hp1 HG02738.hp1 HG03130.hp2 HG03209.hp1 HG03471.hp1 HG03834.hp1 HG04199.hp1	a0002 a0005 a0018 a0002 a0005 a0018	a0002c0007 a0002c0055 a0005c0004 others(1): Show a0002c0007 a0002c0055 a0005c0004 a0018c0018	a0002c0007t0005 a0002c0007t0035 a0002c0007t0037 others(3): Show a0002c0007t0005 a0002c0007t0035 a0002c0007t0037 a0002c0055t0044 a0005c0004t0001 a0018c0018t0005	a0002c0007t0005g0009 a0002c0007t0005g0090 a0002c0007t0005g0309 others(7): Show a0002c0007t0005g0009 a0002c0007t0005g0090 a0002c0007t0005g0309 a0002c0007t0035g0094 a0002c0007t0037g0095 a0002c0055t0044g0089 a0005c0004t0001g0156 a0005c0004t0001g0161 a0005c0004t0001g0215 a0018c0018t0005g0082	10	275	0.0364	102	c.185 others(121): Show c.1859+1466_1859+1467insGTATATTATATATAATATATAACACT ATATTATATATAATATATAACACTATATATTATATATAATATATAACACT ATATATTATATATAATATATAACACT	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	12/22			chr16	TogoVar
ADAMTS3_chr4_72275969_72574221	72455988	C C	CAGTATAT others(95): Show CAGTATATATACTATATATATTTTACATATAGTATATATACTATATATAT TTTACATATAGTATATATACTATATATATATTTTACATATAGTATATATA CTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01081.hp1 HG02074.hp1 others(13): Show HG00408.hp1 HG01081.hp1 HG02074.hp1 NA18939.hp2 NA18942.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18962.hp1 NA18965.hp1 NA18971.hp2 NA19010.hp2 NA19060.hp2 NA19066.hp1 NA19067.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0016 a0001c0001t0019 a0002c0002t0001	a0001c0001t0001g0049 a0001c0001t0001g0143 a0001c0001t0001g0144 others(13): Show a0001c0001t0001g0049 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0002g0149 a0001c0001t0002g0159 a0001c0001t0012g0005 a0001c0001t0016g0092 a0001c0001t0019g0146 a0002c0002t0001g0091	16	161	0.0994	102	c.505 others(121): Show c.505-41018_505-41017insTAGTATATATACTATATGTAAAATAT ATATATAGTATATATACTATATGTAAAATATATATAGTATATATACTATA TGTAAAATATATATAGTATATATACT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72550081	G G	GGAAGAGG others(95): Show GGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG AAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAA GAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp2 HG02080.hp1 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0163 a0001c0001t0001g0045 a0001c0001t0001g0163	2	64	0.0313	102	c.98- others(117): Show c.98-1198_98-1197insTTCTTCTTCTTCCTCTTCCTCTTCCTCTTC CTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCT CTTCCTCTTCCTCTTCCTCTTC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
ADAMTS6_chr5_65143738_65486920	65230302	A A	ATATGAAA others(95): Show ATATGAAATATATATAATACATTATATATATGAAATATATATAATACATT ATATATATGAAATATATATAATACATTATATATATGAAATATATATAATA CAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	114	0.0088	102	c.193 others(121): Show c.1934-4084_1934-4083insATGTATTATATATATTTCATATATAT AATGTATTATATATATTTCATATATATAATGTATTATATATATTTCATAT ATATAATGTATTATATATATTTCATA	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	15/24			chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65230302	A A	ATATGAAA others(95): Show ATATGAAATATATATATAATACATTATATATATGAAATATATATAATACA TTATATATATGAAATATATATAATACATTATATATATGAAATATATAATA CAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	114	0.0088	102	c.193 others(121): Show c.1934-4084_1934-4083insATGTATTATATATTTCATATATATAA TGTATTATATATATTTCATATATATAATGTATTATATATATTTCATATAT ATAATGTATTATATATATATTTCATA	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	15/24			chr5	TogoVar
ADAMTSL3_chr15_83649123_84044842	83903924	A A	AGGAAGGA others(95): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGA AGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0176 a0002c0008t0001g0176	1	263	0.0038	102	c.170 others(121): Show c.1700+4193_1700+4194insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAA GGAAGGAAGGAAGGAAGGAAGGAAGG	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29			chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83903948	A A	AGGAAGGA others(95): Show AGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0034 a0034	a0034c0033 a0034c0033	a0034c0033t0001 a0034c0033t0001	a0034c0033t0001g0240 a0034c0033t0001g0240	1	178	0.0056	102	c.170 others(121): Show c.1700+4217_1700+4218insGGAAGGAAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGG	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29			chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83903948	A A	AGGAAGGG others(95): Show AGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGA AGG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0016 a0006c0005t0002g0016	1	178	0.0056	102	c.170 others(121): Show c.1700+4217_1700+4218insGGAAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGAAGGAAGG	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29			chr15	TogoVar
ADARB2_chr10_1172313_1742525	1459981	A A	AAACCTGC others(95): Show AAACCTGCCTGTGACCTGAGTTTACCTGCGTAACAAACCTGCCTGTGACC TGAGTTTACCTGTGTAGCAAACCTGCCTGTGACCTGAGTTTACCTGTGTA ACG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0043 a0002c0002t0002g0043	1	92	0.0109	102	c.101 others(121): Show c.101-80822_101-80821insCGTTACACAGGTAAACTCAGGTCACA GGCAGGTTTGCTACACAGGTAAACTCAGGTCACAGGCAGGTTTGTTACGC AGGTAAACTCAGGTCACAGGCAGGTT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1460168	G G	GAGTTTAC others(95): Show GAGTTTACCTGTGTAACAAACCTGCCTGTGACCTGAGTTTACCTGTGTAA CAAACCTGCCTGTGACCTGAGTTTACCTGTGTAACAAACCTGCCTGTGAC CTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03540.hp1 HG02630.hp1 HG03540.hp1	a0001 a0007 a0001 a0007	a0001c0007 a0007c0013 a0001c0007 a0007c0013	a0001c0007t0033 a0007c0013t0020 a0001c0007t0033 a0007c0013t0020	a0001c0007t0033g0041 a0007c0013t0020g0037 a0001c0007t0033g0041 a0007c0013t0020g0037	2	86	0.0233	102	c.101 others(121): Show c.101-81009_101-81008insGAGGTCACAGGCAGGTTTGTTACACA GGTAAACTCAGGTCACAGGCAGGTTTGTTACACAGGTAAACTCAGGTCAC AGGCAGGTTTGTTACACAGGTAAACT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGB_chr6_146593972_146820462	146691463	T T	TATATATA others(95): Show TATATATAAATATATATATAAATATATATATATATATAAATATATATATA AATATATATATAAATATATATATATATAAATATATATATAAATATATATA TAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03471.hp2 NA18522.hp1 HG02109.hp2 HG03471.hp2 NA18522.hp1	a0005 a0032 a0005 a0032	a0005c0028 a0032c0046 a0005c0028 a0032c0046	a0005c0028t0001 a0032c0046t0002 a0005c0028t0001 a0032c0046t0002	a0005c0028t0001g0062 a0005c0028t0001g0063 a0032c0046t0002g0014 a0005c0028t0001g0062 a0005c0028t0001g0063 a0032c0046t0002g0014	3	273	0.0110	102	c.148 others(119): Show c.1486+180_1486+181insAATATATATATAAATATATATATATATA TAAATATATATATAAATATATATATAAATATATATATATATAAATATATA TATAAATATATATATAAATATATA	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	11/35		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRE3_chr19_14614117_14679844	14636040	C C	CCTTCCTT others(95): Show CCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0208 a0004c0004t0001g0208	1	370	0.0027	102	c.148 others(121): Show c.1484+2064_1484+2065insAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAA AGGAAAGGAAAGGAAAGGAAAGGAAG	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	11/15			chr19	TogoVar
ADGRG7_chr3_100604601_100700479	100604884	C C	CATATACA others(95): Show CATATACATATATGTATGTGTATATATATGTATATACACATACATATATG TATGTGTATATATATGTATATACACATACATATATGTATGTGTATATATA TGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02630.hp1 HG03041.hp2 others(3): Show HG02109.hp1 HG02630.hp1 HG03041.hp2 HG03225.hp2 HG03471.hp2 HG03516.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0008 a0004c0004 a0006c0007 a0001c0008 a0004c0004 a0006c0007	a0001c0008t0001 a0004c0004t0002 a0006c0007t0004 a0001c0008t0001 a0004c0004t0002 a0006c0007t0004	a0001c0008t0001g0041 a0004c0004t0002g0022 a0004c0004t0002g0037 others(3): Show a0001c0008t0001g0041 a0004c0004t0002g0022 a0004c0004t0002g0037 a0006c0007t0004g0042 a0006c0007t0004g0043 a0006c0007t0004g0044	6	338	0.0178	102	c.-49 others(113): Show c.-4973_-4972insATATACATATATGTATGTGTATATATATGTATAT ACACATACATATATGTATGTGTATATATATGTATATACACATACATATAT GTATGTGTATATATATGT	ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding		4716		chr3	TogoVar
ADGRV1_chr5_90553797_91169437	90721576	T T	TAAAATAA others(95): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAAATAAAATAAAAATAAAATAT AAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0065 a0065	a0065c0053 a0065c0053	a0065c0053t0001 a0065c0053t0001	a0065c0053t0001g0017 a0065c0053t0001g0017	1	8	0.1250	102	c.974 others(119): Show c.9748+533_9748+534insAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAAATAAAATAAAAATAA AATATAAAAAAATAAAATAAAATA	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	45/89		INFO_REALIGN_3_PRIME	chr5	TogoVar
AFF2_chrX_148495617_149005663	148581478	G G	GTATACGT others(95): Show GTATACGTGTACACACATATATACGTATACGTGTACACACATATACACGT ATATACGTATACGTGTACACACATACACGTATATACGTATACGTGTACAC ACA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02451.hp2 HG03041.hp1 others(1): Show HG01934.hp1 HG02451.hp2 HG03041.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0008 a0001c0002t0018 a0001c0001t0005 a0001c0001t0008 a0001c0002t0018	a0001c0001t0005g0117 a0001c0001t0005g0118 a0001c0001t0008g0121 others(1): Show a0001c0001t0005g0117 a0001c0001t0005g0118 a0001c0001t0008g0121 a0001c0002t0018g0107	4	164	0.0244	102	c.48- others(119): Show c.48-70514_48-70513insGTACACACATATATACGTATACGTGTAC ACACATATACACGTATATACGTATACGTGTACACACATACACGTATATAC GTATACGTGTACACACATATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFTPH_chr2_64519328_64598005	64584756	C C	CCGGCTAA others(95): Show CCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTTTTAG CCAGGACGGTCCTTGATCTCCTGACTTTGTGATCTGCCCGCCTCGGCCTC CCA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0221 a0004c0004t0001g0221	1	370	0.0027	102	c.254 others(119): Show c.2540-645_2540-644insTAGTAGAGACGGGGTTTCACCGTTTTAG CCAGGACGGTCCTTGATCTCCTGACTTTGTGATCTGCCCGCCTCGGCCTC CCACGGCTAATTTTTTGTATTTTT	AFTPH	ENSG00000119844.17	transcript	ENST00000409933.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
AHNAK2_chr14_104932253_104983374	104933657	C C	CGGGGCTG others(95): Show CGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCCGCGGCTGAGGGGAC GGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGG GAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 NA19030.hp2 HG00639.hp1 NA19030.hp2	a0041 a0111 a0041 a0111	a0041c0053 a0111c0052 a0041c0053 a0111c0052	a0041c0053t0002 a0111c0052t0002 a0041c0053t0002 a0111c0052t0002	a0041c0053t0002g0147 a0111c0052t0002g0146 a0041c0053t0002g0147 a0111c0052t0002g0146	2	349	0.0057	102	c.44 others(113): Show c.4405_*4406insCTCCCCTCCCGCCCTCCCCGTCCCCTCAGCCCCG CTCCCCTCCCGCCCTCCCCGTCCCCTCAGCCGCGGGTCCCCTCCCGCCCT CCCCGTCCCCTCAGCCCC	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding		3595		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104933741	C C	CGGGAGGG others(95): Show CGGGAGGGCGGGAGGCGACCCGGGGCTGAGTGAGGGGAGGGTGGGAGGGG AGCGGGGCTGAGGGGACCGGGAGGGCGGGAGGGGACCTGCGACTGAGGGG ACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02451.hp1 HG02451.hp2	a0066 a0067 a0066 a0067	a0066c0107 a0067c0130 a0066c0107 a0067c0130	a0066c0107t0002 a0067c0130t0003 a0066c0107t0002 a0067c0130t0003	a0066c0107t0002g0174 a0067c0130t0003g0141 a0066c0107t0002g0174 a0067c0130t0003g0141	2	171	0.0117	102	c.43 others(113): Show c.4321_*4322insTGTCCCCTCAGTCGCAGGTCCCCTCCCGCCCTCC CGGTCCCCTCAGCCCCGCTCCCCTCCCACCCTCCCCTCACTCAGCCCCGG GTCGCCTCCCGCCCTCCC	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding		3511		chr14	TogoVar
AHRR_chr5_316714_443285	415365	C C	CCCTGGTC others(95): Show CCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGA GGCCTAGGGGCCGAGTCTCCCTGGTCGGCTGGGAGGCCTAGGGGCCGAGT CTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0088 a0001c0001t0018g0088	1	247	0.0040	102	c.441 others(119): Show c.441+1941_441+1942insCTGGGAGGCCTAGGGGCCGAATCTGCCT GGTGGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGCTGGGAGGCC TAGGGGCCGAGTCTGCCTGGTCGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415429	A A	ATCTGCCT others(95): Show ATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGC GGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCC GAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0021 a0011c0013t0001g0021	1	223	0.0045	102	c.441 others(119): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAGTCTGCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415429	A A	ATCTGCCT others(95): Show ATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGT GGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCC GAG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG04184.hp2 NA19002.hp1 HG02698.hp1 HG04184.hp2 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0042 a0002c0002t0001 a0002c0002t0042	a0002c0002t0001g0122 a0002c0002t0001g0167 a0002c0002t0042g0166 a0002c0002t0001g0122 a0002c0002t0001g0167 a0002c0002t0042g0166	3	225	0.0133	102	c.441 others(119): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAGTCTGCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415429	A A	ATCTGCCT others(95): Show ATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGT GGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCC GAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03516.hp2 HG03453.hp2 HG03516.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0004c0003t0007 a0001c0001t0001 a0004c0003t0007	a0001c0001t0001g0142 a0004c0003t0007g0244 a0001c0001t0001g0142 a0004c0003t0007g0244	2	224	0.0089	102	c.441 others(119): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGG CCTAGGGGCCGAGTCTGCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415433	G G	GCCTGGTC others(95): Show GCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGA GGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGT CTC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0007 a0004c0003t0007	a0004c0003t0007g0234 a0004c0003t0007g0234	1	226	0.0044	102	c.441 others(119): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGG CCTAGGGGCCGAGTCTCCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415535	G G	GCCTGGTC others(95): Show GCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGA GGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGT CTC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0009 a0004c0003t0009	a0004c0003t0009g0227 a0004c0003t0009g0227	1	249	0.0040	102	c.441 others(119): Show c.441+2109_441+2110insTGCTGGGAGGCCTAGGGGCCGAATCTGC CTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGG CCTAGGGGCCGAGTCTCCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415546	T T	TGGGAGGC others(95): Show TGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGC CGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGG GGC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG06807.hp2 HG02896.hp1 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0022 a0004c0003t0022 a0001c0001t0022 a0004c0003t0022	a0001c0001t0022g0222 a0004c0003t0022g0247 a0001c0001t0022g0222 a0004c0003t0022g0247	2	194	0.0103	102	c.441 others(119): Show c.441+2169_441+2170insCCCTGGTCGGGTGGGAGGCCTAGGGGCC GAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTG CTGGGAGGCCTAGGGGCCGAATCT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415565	A A	ATCTGCCT others(95): Show ATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGC GGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCC GAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0013 a0004c0003t0013	a0004c0003t0013g0232 a0004c0003t0013g0248 a0004c0003t0013g0232 a0004c0003t0013g0248	2	195	0.0103	102	c.441 others(119): Show c.441+2143_441+2144insGGGCGGGAGGCCTAGGGGCCGAATCTGC CTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGG CCTAGGGGCCGAGTCTGCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415580	T T	TGGGAGGC others(95): Show TGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGC CGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCG GGC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0014 a0005c0005t0014	a0005c0005t0014g0180 a0005c0005t0014g0180	1	195	0.0051	102	c.441 others(119): Show c.441+2176_441+2177insCGGGTGGGAGGCCTAGGGGCCGAATCTG CCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAG GCCTAGGGGCCGAATCTGCCTGGT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415614	C C	CGGGAGGC others(95): Show CGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGC CGAGTCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCT GCT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0050 a0002c0002t0050	a0002c0002t0050g0101 a0002c0002t0050g0101	1	130	0.0077	102	c.441 others(119): Show c.441+2210_441+2211insCGGGCGGGAGGCCTAGGGGCCGAGTCTG CCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCTGCTGGGAG GCCTAGGGGCCGAATCTGCCTGGT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415614	C C	CGGGAGGC others(95): Show CGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGC CGAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCT GCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0009 a0004c0003t0009	a0004c0003t0009g0225 a0004c0003t0009g0225	1	130	0.0077	102	c.441 others(119): Show c.441+2233_441+2234insGTCTCCCTGGTCGGGCGGGAGGCCTAGG GGCCGAGTCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGG TGGGGCGGGAGGCCTAGGGGCCGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415644	G G	GGGGCGGG others(95): Show GGGGCGGGAGGCCTAGGGGCGGAGTCTGCCTGGTCGGCTGGGAGGCCTAG GGGCCGAACCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTG GTC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0004 a0003c0004t0004g0004	1	239	0.0042	102	c.441 others(119): Show c.441+2230_441+2231insGGAGTCTGCCTGGTCGGCTGGGAGGCCT AGGGGCCGAACCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCC TGGTCGGGCGGGAGGCCTAGGGGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ALLC_chr2_3653200_3707671	3690296	C C	CCCTCCCC others(95): Show CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCCTCCCC TCCCCTCCCCTCCCCTCCCACTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0142 a0002c0002t0001g0142	1	226	0.0044	102	c.512 others(119): Show c.512-5419_512-5418insTCCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCACTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCCTCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3690353	T T	TCCCCCCT others(95): Show TCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC TCC	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	262	0.0038	102	c.512 others(119): Show c.512-5360_512-5359insCCTCCCCTCCCCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764800	T T	TTTTATAT others(95): Show TTTTATATATATATATACATATATATATATACATATATATACATATATAT ATATATATATATATATATGTATATATATATATGTATATATATATATACGT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0256 a0001c0007t0007g0256	1	287	0.0035	102	c.44 others(113): Show c.4490_*4491insTATACGTATATATATATATACATATATATATATA CATATATATATATATATATATATATATGTATATATATGTATATATATATA TGTATATATATATATAAA	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2839		chr2	TogoVar

Search by Variant

Search

Search Results