Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
A1BG_chr19_58340183_58358492	58347688	G G	GCCCCAGG others(5): Show GCCCCAGGCCACA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0101 a0002c0002t0021g0101	1	386	0.0026	12	c.119 others(27): Show c.1193-60_1193-49dupTGTGGCCTGGGG	A1BG	ENSG00000121410.12	transcript	ENST00000263100.8	protein_coding	6/7			chr19	TogoVar
A1BG_chr19_58340183_58358492	58347699	C C	CGCCCAGG others(5): Show CGCCCAGGCCACG	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	386	0.0026	12	c.119 others(27): Show c.1193-60_1193-59insCGTGGCCTGGGC	A1BG	ENSG00000121410.12	transcript	ENST00000263100.8	protein_coding	6/7			chr19	TogoVar
A1CF_chr10_50794409_50890627	50830905	A A	AAAACAGA others(5): Show AAAACAGACATTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19011.hp1 NA19060.hp2 HG00621.hp1 NA19011.hp1 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0019 a0001c0002t0004g0105 a0001c0002t0004g0019 a0001c0002t0004g0105	3	338	0.0089	12	c.605 others(29): Show c.605-2622_605-2611dupAAATGTCTGTTT	A1CF	ENSG00000148584.16	transcript	ENST00000373997.8	protein_coding	6/12			chr10	TogoVar
A2ML1_chr12_8817621_8881787	8840966	A A	AGAAGGAA others(5): Show AGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp2 HG01192.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0072 a0001c0002t0002g0073	2	368	0.0054	12	c.108 others(29): Show c.1081-392_1081-391insGGAAGGAAGGAA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	10/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A2ML1_chr12_8817621_8881787	8840978	A A	AGAAGGAA others(5): Show AGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp1 HG01433.hp1 others(9): Show HG01074.hp2 HG01081.hp1 HG01433.hp1 HG02148.hp2 HG02257.hp1 HG02717.hp2 HG02738.hp2 HG02922.hp2 HG02970.hp2 HG03688.hp1 NA18522.hp2 NA19043.hp2	a0002 a0003 a0004 others(6): Show a0002 a0003 a0004 a0017 a0021 a0024 a0038 a0039 a0040	a0002c0007 a0003c0005 a0003c0010 others(7): Show a0002c0007 a0003c0005 a0003c0010 a0004c0047 a0017c0018 a0021c0031 a0024c0058 a0038c0039 a0039c0037 a0040c0036	a0002c0007t0003 a0003c0005t0003 a0003c0010t0003 others(7): Show a0002c0007t0003 a0003c0005t0003 a0003c0010t0003 a0004c0047t0004 a0017c0018t0001 a0021c0031t0003 a0024c0058t0002 a0038c0039t0002 a0039c0037t0006 a0040c0036t0001	a0002c0007t0003g0322 a0003c0005t0003g0104 a0003c0005t0003g0285 others(9): Show a0002c0007t0003g0322 a0003c0005t0003g0104 a0003c0005t0003g0285 a0003c0010t0003g0078 a0004c0047t0004g0093 a0017c0018t0001g0168 a0017c0018t0001g0169 a0021c0031t0003g0361 a0024c0058t0002g0081 a0038c0039t0002g0015 a0039c0037t0006g0166 a0040c0036t0001g0170	12	368	0.0326	12	c.108 others(29): Show c.1081-368_1081-357dupAGGAAGGAAGGA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	10/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A2ML1_chr12_8817621_8881787	8841009	A A	AGGAAGGA others(5): Show AGGAAGGAAGGAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01358.hp2 HG01515.hp2 others(7): Show HG00609.hp2 HG01358.hp2 HG01515.hp2 HG02027.hp1 HG02300.hp2 HG03139.hp2 NA18941.hp1 NA18946.hp2 NA18972.hp2 NA20752.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0002c0004 a0002c0007 a0005c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0002 a0001c0006t0002 a0001c0008t0001 a0002c0004t0003 a0002c0007t0003 a0005c0009t0001	a0001c0001t0001g0116 a0001c0001t0003g0157 a0001c0001t0003g0209 others(7): Show a0001c0001t0001g0116 a0001c0001t0003g0157 a0001c0001t0003g0209 a0001c0001t0006g0016 a0001c0002t0002g0058 a0001c0006t0002g0226 a0001c0008t0001g0239 a0002c0004t0003g0034 a0002c0007t0003g0230 a0005c0009t0001g0068	10	368	0.0272	12	c.108 others(29): Show c.1081-357_1081-356insAGGAAGGACGGA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	10/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
A2M_chr12_9062708_9120919	9120852	C C	CATGTGTG others(5): Show CATGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01256.hp2 HG02145.hp1 others(5): Show HG00738.hp1 HG01256.hp2 HG02145.hp1 HG03130.hp2 HG03225.hp2 HG04184.hp1 NA18906.hp1 NA19030.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0013 a0001c0001 a0016c0013	a0001c0001t0002 a0016c0013t0002 a0001c0001t0002 a0016c0013t0002	a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0050 others(5): Show a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0078 a0016c0013t0002g0049	8	332	0.0241	12	c.-50 others(23): Show c.-5004_-5003insACACACACACAT	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding		4934		chr12	TogoVar
A2M_chr12_9062708_9120919	9120852	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG00621.hp1 others(33): Show HG00140.hp2 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01934.hp2 HG02074.hp1 HG02129.hp1 HG02155.hp1 HG02273.hp1 HG02300.hp2 HG02559.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02886.hp1 HG02895.hp1 HG02976.hp1 HG03017.hp2 HG03139.hp1 HG03516.hp1 NA18940.hp1 NA18947.hp1 NA18963.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA19012.hp2 NA19068.hp2 NA19088.hp2	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0011	a0001c0001 a0002c0002 a0010c0023 others(1): Show a0001c0001 a0002c0002 a0010c0023 a0011c0024	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0010c0023t0001 a0011c0024t0001	a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0028 others(30): Show a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0158 a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0002g0013 a0001c0001t0002g0059 a0001c0001t0002g0067 a0002c0002t0002g0016 a0010c0023t0001g0213 a0011c0024t0001g0214	36	332	0.1084	12	c.-50 others(23): Show c.-5004_-5003insACACACACACAC	A2M	ENSG00000175899.15	transcript	ENST00000318602.12	protein_coding		4934		chr12	TogoVar
A3GALT2_chr1_33301766_33326098	33308750	G G	GTTGTTTT others(5): Show GTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0074 a0001c0001t0000g0074	1	418	0.0024	12	c.336 others(29): Show c.336-1298_336-1297insAAAAAAAAACAA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
A3GALT2_chr1_33301766_33326098	33308750	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02109.hp1 HG02258.hp1 others(8): Show HG01106.hp2 HG02109.hp1 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03516.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0000 a0002c0002t0000 a0001c0001t0000 a0002c0002t0000	a0001c0001t0000g0023 a0001c0001t0000g0065 a0001c0001t0000g0079 others(7): Show a0001c0001t0000g0023 a0001c0001t0000g0065 a0001c0001t0000g0079 a0001c0001t0000g0083 a0001c0001t0000g0087 a0001c0001t0000g0101 a0001c0001t0000g0106 a0001c0001t0000g0257 a0002c0002t0000g0111 a0002c0002t0000g0147	11	418	0.0263	12	c.336 others(29): Show c.336-1309_336-1298dupAAAAAAAAAAAA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
A4GALT_chr22_42687121_42725870	42696121	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19086.hp1 NA19089.hp2 NA18998.hp2 NA19086.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0150 a0001c0001t0002g0315 a0001c0001t0007g0039 a0001c0001t0002g0150 a0001c0001t0002g0315 a0001c0001t0007g0039	3	406	0.0074	12	c.-18 others(29): Show c.-187-502_-187-491dupTTTTTTTTTTTT	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42703057	C C	CTCTGTGT others(5): Show CTCTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03130.hp1 HG03453.hp1 others(1): Show HG02647.hp2 HG03130.hp1 HG03453.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0022 a0001c0001t0024 a0001c0001t0004 a0001c0001t0022 a0001c0001t0024	a0001c0001t0004g0246 a0001c0001t0004g0393 a0001c0001t0022g0214 others(1): Show a0001c0001t0004g0246 a0001c0001t0004g0393 a0001c0001t0022g0214 a0001c0001t0024g0252	4	406	0.0099	12	c.-18 others(31): Show c.-187-7427_-187-7426insCACACACACAGA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42703106	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp1 HG02559.hp1 others(2): Show HG00642.hp1 HG01109.hp1 HG02559.hp1 HG03209.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0007 a0002c0003 a0001c0002 a0001c0007 a0002c0003	a0001c0002t0027 a0001c0007t0004 a0002c0003t0001 a0001c0002t0027 a0001c0007t0004 a0002c0003t0001	a0001c0002t0027g0396 a0001c0007t0004g0265 a0001c0007t0004g0266 others(2): Show a0001c0002t0027g0396 a0001c0007t0004g0265 a0001c0007t0004g0266 a0001c0007t0004g0271 a0002c0003t0001g0269	5	406	0.0123	12	c.-18 others(31): Show c.-187-7487_-187-7476dupCACACACACACA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42708545	A A	AGAAGGAA others(5): Show AGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(88): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00558.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG01070.hp2 HG01081.hp1 HG01099.hp2 HG01192.hp1 HG01256.hp2 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02080.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03239.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04199.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18945.hp1 NA18951.hp1 NA18955.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18985.hp1 NA18988.hp1 NA18988.hp2 NA18993.hp1 NA18995.hp2 NA18999.hp2 NA19011.hp2 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19068.hp2 NA19072.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0009 others(4): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003 a0003c0004 a0004c0005 a0006c0013	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(18): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0019 a0001c0001t0024 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0014 a0001c0002t0015 a0001c0002t0021 a0001c0009t0013 a0002c0003t0001 a0002c0003t0008 a0003c0004t0006 a0004c0005t0010 a0006c0013t0008	a0001c0001t0002g0113 a0001c0001t0002g0155 a0001c0001t0002g0187 others(86): Show a0001c0001t0002g0113 a0001c0001t0002g0155 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0004g0293 a0001c0001t0004g0295 a0001c0001t0004g0300 a0001c0001t0004g0334 a0001c0001t0004g0336 a0001c0001t0004g0381 a0001c0001t0007g0017 a0001c0001t0007g0027 a0001c0001t0007g0033 a0001c0001t0007g0047 a0001c0001t0007g0050 a0001c0001t0007g0063 a0001c0001t0019g0206 a0001c0001t0024g0252 a0001c0002t0003g0013 a0001c0002t0003g0025 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0043 a0001c0002t0003g0049 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0002t0003g0062 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0070 a0001c0002t0003g0073 a0001c0002t0003g0074 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0004g0088 a0001c0002t0005g0099 a0001c0002t0005g0108 a0001c0002t0005g0112 a0001c0002t0006g0004 a0001c0002t0006g0211 a0001c0002t0006g0221 a0001c0002t0006g0222 a0001c0002t0009g0117 a0001c0002t0009g0242 a0001c0002t0011g0006 a0001c0002t0011g0279 a0001c0002t0011g0280 a0001c0002t0012g0022 a0001c0002t0014g0023 a0001c0002t0014g0040 a0001c0002t0015g0018 a0001c0002t0015g0051 a0001c0002t0021g0282 a0001c0009t0013g0384 a0002c0003t0001g0230 a0002c0003t0001g0231 a0002c0003t0001g0233 a0002c0003t0001g0243 a0002c0003t0001g0248 a0002c0003t0001g0255 a0002c0003t0001g0338 a0002c0003t0001g0385 a0002c0003t0001g0386 a0002c0003t0001g0387 a0002c0003t0001g0388 a0002c0003t0008g0041 a0002c0003t0008g0042 a0002c0003t0008g0048 a0003c0004t0006g0223 a0003c0004t0006g0224 a0003c0004t0006g0226 a0004c0005t0010g0086 a0004c0005t0010g0273 a0004c0005t0010g0274 a0004c0005t0010g0275 a0006c0013t0008g0052	91	406	0.2241	12	c.-18 others(33): Show c.-188+12240_-188+12251dupCTTCCTTCCTTC	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding	1/2			chr22	TogoVar
A4GALT_chr22_42687121_42725870	42722222	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01978.hp2 HG02004.hp1 others(10): Show HG00735.hp1 HG01978.hp2 HG02004.hp1 HG02451.hp1 HG02738.hp2 NA18950.hp1 NA18981.hp1 NA18985.hp1 NA18998.hp2 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0007 a0001c0002t0003 a0002c0003t0008 a0001c0001t0007 a0001c0002t0003 a0002c0003t0008	a0001c0001t0007g0034 a0001c0001t0007g0039 a0001c0001t0007g0046 others(10): Show a0001c0001t0007g0034 a0001c0001t0007g0039 a0001c0001t0007g0046 a0001c0001t0007g0063 a0001c0001t0007g0065 a0001c0002t0003g0001 a0001c0002t0003g0015 a0001c0002t0003g0031 a0001c0002t0003g0049 a0001c0002t0003g0055 a0001c0002t0003g0081 a0001c0002t0003g0082 a0002c0003t0008g0041	13	406	0.0320	12	c.-16 others(23): Show c.-1614_-1613insAAAAAAAAAAAA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding		1353		chr22	TogoVar
A4GALT_chr22_42687121_42725870	42722223	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0282 a0001c0002t0021g0282	1	406	0.0025	12	c.-16 others(23): Show c.-1615_-1614insAAAAAAAAAAAA	A4GALT	ENSG00000128274.17	transcript	ENST00000642412.2	protein_coding		1354		chr22	TogoVar
AAAS_chr12_53302460_53326610	53318223	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01109.hp1 HG03453.hp1 others(3): Show HG01070.hp2 HG01109.hp1 HG03453.hp1 HG03927.hp2 NA18971.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0008 a0001c0001t0001g0027	6	330	0.0182	12	c.251 others(29): Show c.251+2330_251+2341dupACACACACACAC	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15			chr12	TogoVar
AAAS_chr12_53302460_53326610	53318241	T T	TGTGTGTG others(5): Show TGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	330	0.0030	12	c.251 others(29): Show c.251+2323_251+2324insGCACACACACAC	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15			chr12	TogoVar
AAAS_chr12_53302460_53326610	53318243	T T	TGTGTGTG others(5): Show TGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02896.hp2 NA18994.hp2 others(1): Show HG00558.hp1 HG02896.hp2 NA18994.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 others(1): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0111	4	330	0.0121	12	c.251 others(29): Show c.251+2321_251+2322insGCACACACACAC	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15			chr12	TogoVar
AAAS_chr12_53302460_53326610	53318247	T T	TGTGTGTG others(5): Show TGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG00673.hp2 others(19): Show HG00408.hp2 HG00609.hp1 HG00673.hp2 HG01358.hp1 HG01928.hp2 HG01952.hp2 HG01993.hp1 HG03130.hp2 HG03540.hp2 NA18947.hp1 NA18951.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18973.hp1 NA18981.hp1 NA18994.hp1 NA18997.hp1 NA19004.hp2 NA19080.hp1 NA19088.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0047 a0001c0001t0001g0117 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0047 a0001c0001t0001g0117 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0002t0001g0023	22	330	0.0667	12	c.251 others(29): Show c.251+2317_251+2318insGCACACACACAC	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15			chr12	TogoVar
AAAS_chr12_53302460_53326610	53318249	T T	TGTGTGTG others(5): Show TGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	330	0.0030	12	c.251 others(29): Show c.251+2315_251+2316insGCACACACACAC	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	2/15			chr12	TogoVar
AACS_chr12_125060435_125148316	125103987	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	364	0.0028	12	c.767 others(27): Show c.767+927_767+938dupAAAAAAAAAAAA	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125112678	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG00735.hp1 others(26): Show HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp2 HG01243.hp2 HG01517.hp2 HG02071.hp2 HG02148.hp1 HG02683.hp2 HG03098.hp1 HG03209.hp2 HG03471.hp1 HG03688.hp1 HG06807.hp1 NA18950.hp2 NA18973.hp2 NA18988.hp1 NA18989.hp1 NA19030.hp2 NA19060.hp2 NA19065.hp2 NA19067.hp2 NA19078.hp2 NA19081.hp1 NA20805.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0007 others(1): Show a0001c0001 a0002c0002 a0002c0007 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0002c0002t0001 a0002c0007t0001 a0005c0014t0001	a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0091 others(26): Show a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0161 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0002g0042 a0001c0001t0002g0057 a0001c0001t0002g0073 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0171 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0195 a0001c0001t0002g0201 a0001c0001t0002g0206 a0001c0001t0002g0252 a0001c0001t0002g0298 a0001c0001t0002g0323 a0001c0001t0006g0092 a0001c0001t0011g0108 a0002c0002t0001g0269 a0002c0007t0001g0017 a0002c0007t0001g0027 a0005c0014t0001g0339	29	364	0.0797	12	c.916 others(29): Show c.916-1797_916-1786dupAAAAAAAAAAAA	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AADACL2_chr3_151728927_151766339	151731938	G G	GAGATAGA others(5): Show GAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00738.hp2 others(30): Show HG00099.hp2 HG00140.hp2 HG00738.hp2 HG01069.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01361.hp2 HG01496.hp1 HG02109.hp2 HG02258.hp1 HG02486.hp1 HG02723.hp2 HG02735.hp2 HG02886.hp1 HG03453.hp2 HG03471.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03942.hp2 HG04184.hp1 NA18965.hp1 NA19010.hp1 NA19043.hp1 NA19063.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 others(12): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0034 a0001c0001t0035 a0001c0001t0044 a0001c0001t0045 a0001c0005t0003	a0001c0001t0003g0010 a0001c0001t0006g0016 a0001c0001t0006g0021 others(21): Show a0001c0001t0003g0010 a0001c0001t0006g0016 a0001c0001t0006g0021 a0001c0001t0006g0095 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0009g0010 a0001c0001t0009g0044 a0001c0001t0013g0010 a0001c0001t0013g0140 a0001c0001t0014g0125 a0001c0001t0016g0011 a0001c0001t0016g0092 a0001c0001t0016g0100 a0001c0001t0016g0102 a0001c0001t0017g0029 a0001c0001t0021g0103 a0001c0001t0022g0011 a0001c0001t0027g0142 a0001c0001t0034g0054 a0001c0001t0035g0049 a0001c0001t0044g0011 a0001c0001t0045g0011 a0001c0005t0003g0010	33	428	0.0771	12	c.-20 others(23): Show c.-2098_-2097insAGATAGATAGAT	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding		1988		chr3	TogoVar
AADACL2_chr3_151728927_151766339	151761204	G G	GATATATA others(5): Show GATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp2 HG01099.hp2 HG01261.hp2 others(5): Show HG00673.hp2 HG01099.hp2 HG01261.hp2 NA18946.hp1 NA18956.hp2 NA18957.hp2 NA19011.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0020 a0002c0002t0037 a0002c0002t0040 a0001c0001t0020 a0002c0002t0037 a0002c0002t0040	a0001c0001t0020g0006 a0001c0001t0020g0043 a0001c0001t0020g0146 others(3): Show a0001c0001t0020g0006 a0001c0001t0020g0043 a0001c0001t0020g0146 a0002c0002t0037g0004 a0002c0002t0037g0022 a0002c0002t0040g0005	8	428	0.0187	12	c.36 others(23): Show c.3637_*3648dupATATATATATAT	AADACL2	ENSG00000197953.6	transcript	ENST00000356517.4	protein_coding	5/5	3649	INFO_REALIGN_3_PRIME	chr3	TogoVar
AADACL3_chr1_12711110_12733760	12727489	A A	AGAATCAG others(5): Show AGAATCAGACACT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0002 a0001c0001t0029g0002	1	432	0.0023	12	c.14 others(23): Show c.1494_*1495insAATCAGACACTG	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	4/4	1495	INFO_REALIGN_3_PRIME	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12648346	A A	ATCCATCC others(5): Show ATCCATCCTTCCT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03098.hp2 NA20129.hp2 HG02896.hp1 HG03098.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0002t0004 a0001c0006t0004 a0001c0002t0001 a0001c0002t0004 a0001c0006t0004	a0001c0002t0001g0226 a0001c0002t0004g0055 a0001c0006t0004g0049 a0001c0002t0001g0226 a0001c0002t0004g0055 a0001c0006t0004g0049	3	310	0.0097	12	c.169 others(29): Show c.169-2774_169-2773insATCCTTCCTTCC	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12648346	A A	ATCCTTCC others(5): Show ATCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02896.hp2 HG02965.hp1 others(5): Show HG02486.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG03453.hp1 HG04115.hp1 NA18522.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0071 a0001c0001t0001g0096 a0001c0001t0001g0112 others(5): Show a0001c0001t0001g0071 a0001c0001t0001g0096 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0002g0064 a0001c0001t0005g0219	8	310	0.0258	12	c.169 others(29): Show c.169-2743_169-2732dupCCTTCCTTCCTT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12648388	C C	CCTTCCTT others(5): Show CCTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03041.hp1 HG03579.hp2 others(1): Show HG02886.hp1 HG03041.hp1 HG03579.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0009 a0001c0001t0001 a0001c0001t0002 a0001c0003t0009	a0001c0001t0001g0070 a0001c0001t0001g0259 a0001c0001t0002g0063 others(1): Show a0001c0001t0001g0070 a0001c0001t0001g0259 a0001c0001t0002g0063 a0001c0003t0009g0046	4	310	0.0129	12	c.169 others(29): Show c.169-2732_169-2731insCCTTTCTTTCTT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12658108	T T	TTTCCTTC others(5): Show TTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01346.hp1 HG02698.hp1 others(10): Show HG01069.hp2 HG01346.hp1 HG02698.hp1 HG02735.hp1 NA18944.hp1 NA18946.hp2 NA18968.hp2 NA18985.hp1 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0074 others(8): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0074 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0207 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0248	13	310	0.0419	12	c.386 others(29): Show c.386-3660_386-3649dupCCTTCCTTCCTT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12658115	C C	CCTTTCTT others(5): Show CCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	310	0.0032	12	c.386 others(29): Show c.386-3673_386-3672insTCTTTCTTTCTT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12658139	C C	CCTTCCTT others(5): Show CCTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0083 a0001c0001t0010g0083	1	310	0.0032	12	c.386 others(29): Show c.386-3649_386-3648insCCTTTCTTTCTT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADACL4_chr1_12639085_12672076	12658139	C C	CCTTTCTT others(5): Show CCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	310	0.0032	12	c.386 others(29): Show c.386-3635_386-3624dupCTTTCTTTCTTT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AADAC_chr3_151809116_151833488	151831382	T T	TATACACA others(5): Show TATACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00544.hp2 others(14): Show HG00140.hp1 HG00323.hp1 HG00544.hp2 HG00673.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG02698.hp2 HG03669.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0003c0003t0001 a0001c0001t0001 a0001c0001t0003 a0003c0003t0001	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 others(7): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0003g0044 a0001c0001t0003g0045 a0003c0003t0001g0041 a0003c0003t0001g0114	17	440	0.0386	12	c.32 others(23): Show c.3210_*3211insATACACACACAC	AADAC	ENSG00000114771.14	transcript	ENST00000232892.12	protein_coding		2895		chr3	TogoVar
AADAT_chr4_170055222_170094956	170056435	A A	AAAATATA others(5): Show AAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	12	c.44 others(23): Show c.4492_*4493insATATATATATTT	AADAT	ENSG00000109576.14	transcript	ENST00000337664.9	protein_coding		3786		chr4	TogoVar
AADAT_chr4_170055222_170094956	170056457	T T	TATATATA others(5): Show TATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	378	0.0027	12	c.44 others(23): Show c.4470_*4471insGTATATATATAT	AADAT	ENSG00000109576.14	transcript	ENST00000337664.9	protein_coding		3764		chr4	TogoVar
AAGAB_chr15_67195667_67259661	67222233	C C	CGCGCGCG others(5): Show CGCGCGCGCGCGT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0235 a0001c0001t0005g0235	1	380	0.0026	12	c.535 others(29): Show c.535+9580_535+9581insACGCGCGCGCGC	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCACAC others(5): Show GCGCACACACACA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01515.hp1 HG02683.hp2 others(3): Show HG00673.hp2 HG01515.hp1 HG02683.hp2 NA18945.hp1 NA18959.hp1 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0002 a0002c0002t0003	a0001c0001t0002g0036 a0001c0001t0002g0038 a0002c0002t0002g0005 others(2): Show a0001c0001t0002g0036 a0001c0001t0002g0038 a0002c0002t0002g0005 a0002c0002t0003g0197 a0002c0002t0003g0213	6	380	0.0158	12	c.535 others(29): Show c.535+9571_535+9572insTGTGTGTGTGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222242	G G	GCGCGCGT others(5): Show GCGCGCGTGCACA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0023 a0001c0001t0020g0023	1	380	0.0026	12	c.535 others(29): Show c.535+9571_535+9572insTGTGCACGCGCG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(5): Show ACACACACACACC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02257.hp2 HG02922.hp2 others(4): Show HG01074.hp1 HG02257.hp2 HG02922.hp2 HG03491.hp2 NA18970.hp1 NA19067.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0144 a0002c0002t0003g0156 a0002c0002t0003g0172 others(4): Show a0002c0002t0003g0144 a0002c0002t0003g0156 a0002c0002t0003g0172 a0002c0002t0003g0199 a0002c0002t0003g0205 a0002c0002t0003g0206 a0002c0002t0003g0212	7	380	0.0184	12	c.535 others(29): Show c.535+9531_535+9532insGGTGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67241040	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp1 HG01081.hp2 others(17): Show HG00639.hp2 HG01070.hp1 HG01081.hp2 HG01109.hp2 HG01256.hp2 HG01433.hp2 HG02040.hp1 HG02055.hp1 HG02083.hp1 HG02257.hp1 HG02451.hp1 HG02572.hp1 HG02647.hp1 HG02683.hp2 HG02895.hp1 HG02897.hp1 HG03490.hp2 HG04184.hp2 NA18943.hp1 NA18971.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0019 a0001c0001t0020 a0002c0002t0002 a0002c0002t0014	a0001c0001t0002g0028 a0001c0001t0002g0037 a0001c0001t0002g0038 others(17): Show a0001c0001t0002g0028 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0056 a0001c0001t0002g0074 a0001c0001t0006g0237 a0001c0001t0006g0238 a0001c0001t0008g0017 a0001c0001t0019g0048 a0001c0001t0020g0023 a0002c0002t0002g0039 a0002c0002t0002g0049 a0002c0002t0002g0062 a0002c0002t0002g0065 a0002c0002t0002g0112 a0002c0002t0002g0117 a0002c0002t0014g0094	20	380	0.0526	12	c.74- others(27): Show c.74-4232_74-4221dupGTGTGTGTGTGT	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	1/9			chr15	TogoVar
AAGAB_chr15_67195667_67259661	67253260	C C	CGGGGGGG others(5): Show CGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG02970.hp2 others(3): Show HG02486.hp1 HG02622.hp1 HG02970.hp2 HG03486.hp1 NA18941.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0026 a0001c0001t0004g0254 a0001c0001t0004g0255 others(3): Show a0001c0001t0002g0026 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0354	6	380	0.0158	12	c.73+ others(27): Show c.73+1287_73+1298dupCCCCCCCCCCCC	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	1/9			chr15	TogoVar
AAK1_chr2_69452997_69648739	69488149	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG01243.hp1 others(36): Show HG00544.hp1 HG00597.hp2 HG01243.hp1 HG01258.hp1 HG01358.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02083.hp1 HG02132.hp1 HG02148.hp2 HG02293.hp2 HG02300.hp2 HG02738.hp1 HG02965.hp1 HG02965.hp2 HG03209.hp1 NA18906.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18954.hp2 NA18980.hp1 NA19002.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp2 NA19060.hp2 NA19066.hp2 NA19078.hp2 NA19080.hp2 NA19084.hp1 NA19090.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0011 a0004c0013 a0001c0001 a0001c0011 a0004c0013	a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 others(11): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0001c0001t0020 a0001c0001t0074 a0001c0001t0075 a0001c0001t0083 a0001c0001t0119 a0001c0001t0120 a0001c0001t0126 a0001c0001t0136 a0001c0011t0029 a0004c0013t0107	a0001c0001t0004g0206 a0001c0001t0004g0216 a0001c0001t0004g0221 others(36): Show a0001c0001t0004g0206 a0001c0001t0004g0216 a0001c0001t0004g0221 a0001c0001t0004g0254 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0261 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0268 a0001c0001t0006g0204 a0001c0001t0006g0205 a0001c0001t0006g0207 a0001c0001t0006g0218 a0001c0001t0006g0220 a0001c0001t0006g0222 a0001c0001t0006g0223 a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0011g0192 a0001c0001t0011g0194 a0001c0001t0011g0195 a0001c0001t0011g0196 a0001c0001t0011g0201 a0001c0001t0014g0059 a0001c0001t0014g0060 a0001c0001t0014g0066 a0001c0001t0020g0193 a0001c0001t0074g0048 a0001c0001t0075g0020 a0001c0001t0083g0016 a0001c0001t0119g0181 a0001c0001t0120g0187 a0001c0001t0126g0219 a0001c0001t0136g0212 a0001c0011t0029g0293 a0004c0013t0107g0107	39	298	0.1309	12	c.236 others(31): Show c.2366-5349_2366-5338dupACACACACACAC	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69490923	C C	CCACACAC others(5): Show CCACACACACACA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG01257.hp1 others(45): Show HG00544.hp1 HG00597.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02083.hp1 HG02132.hp1 HG02148.hp2 HG02293.hp2 HG02300.hp2 HG02738.hp1 HG03209.hp1 HG04228.hp1 NA18747.hp1 NA18943.hp1 NA18945.hp2 NA18954.hp2 NA18956.hp1 NA18963.hp2 NA18973.hp1 NA18980.hp1 NA18992.hp1 NA19002.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp2 NA19055.hp1 NA19060.hp2 NA19063.hp2 NA19066.hp2 NA19068.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 others(17): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0020 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0083 a0001c0001t0101 a0001c0001t0102 a0001c0001t0119 a0001c0001t0120 a0001c0001t0126 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0143 a0001c0001t0147 a0001c0001t0149	a0001c0001t0004g0206 a0001c0001t0004g0216 a0001c0001t0004g0221 others(45): Show a0001c0001t0004g0206 a0001c0001t0004g0216 a0001c0001t0004g0221 a0001c0001t0004g0233 a0001c0001t0004g0254 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0261 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0268 a0001c0001t0006g0204 a0001c0001t0006g0205 a0001c0001t0006g0207 a0001c0001t0006g0213 a0001c0001t0006g0217 a0001c0001t0006g0218 a0001c0001t0006g0220 a0001c0001t0006g0222 a0001c0001t0006g0223 a0001c0001t0006g0224 a0001c0001t0006g0225 a0001c0001t0011g0192 a0001c0001t0011g0194 a0001c0001t0011g0195 a0001c0001t0011g0196 a0001c0001t0011g0197 a0001c0001t0011g0201 a0001c0001t0020g0193 a0001c0001t0020g0202 a0001c0001t0020g0208 a0001c0001t0074g0048 a0001c0001t0075g0020 a0001c0001t0076g0037 a0001c0001t0083g0016 a0001c0001t0101g0118 a0001c0001t0102g0113 a0001c0001t0119g0181 a0001c0001t0120g0187 a0001c0001t0126g0219 a0001c0001t0136g0212 a0001c0001t0137g0247 a0001c0001t0138g0209 a0001c0001t0139g0231 a0001c0001t0143g0198 a0001c0001t0147g0274 a0001c0001t0149g0280	48	298	0.1611	12	c.236 others(31): Show c.2365+5050_2365+5061dupTGTGTGTGTGTG	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69493158	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18963.hp1 HG02809.hp2 NA18963.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0021 a0002c0002t0131 a0001c0007t0021 a0002c0002t0131	a0001c0007t0021g0276 a0002c0002t0131g0211 a0001c0007t0021g0276 a0002c0002t0131g0211	2	298	0.0067	12	c.236 others(31): Show c.2365+2815_2365+2826dupTTTTTTTTTTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500664	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG01074.hp1 others(6): Show HG00099.hp1 HG00544.hp2 HG01074.hp1 HG01192.hp2 HG01255.hp2 HG02056.hp2 HG02809.hp1 HG04199.hp2 NA18968.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0023 a0002c0002t0038 others(4): Show a0002c0002t0001 a0002c0002t0023 a0002c0002t0038 a0002c0002t0039 a0002c0002t0052 a0002c0002t0053 a0002c0002t0110	a0002c0002t0001g0034 a0002c0002t0001g0046 a0002c0002t0001g0057 others(6): Show a0002c0002t0001g0034 a0002c0002t0001g0046 a0002c0002t0001g0057 a0002c0002t0023g0026 a0002c0002t0038g0001 a0002c0002t0039g0004 a0002c0002t0052g0023 a0002c0002t0053g0056 a0002c0002t0110g0177	9	298	0.0302	12	c.227 others(31): Show c.2270-4596_2270-4585dupATATATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500698	T T	TAGACACA others(5): Show TAGACACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0059 a0001c0001t0014g0059	1	298	0.0034	12	c.227 others(31): Show c.2270-4619_2270-4618insGTGTGTGTGTCT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500698	T T	TATACACA others(5): Show TATACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0016 a0001c0006t0016	a0001c0006t0016g0017 a0001c0006t0016g0017	1	298	0.0034	12	c.227 others(31): Show c.2270-4619_2270-4618insGTGTGTGTGTAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500698	T T	TATATATA others(5): Show TATATATATACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG01258.hp2 others(2): Show HG00738.hp1 HG01099.hp1 HG01258.hp2 HG02451.hp1 HG02602.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0012 a0001c0003t0026 a0002c0002t0003 others(2): Show a0001c0003t0012 a0001c0003t0026 a0002c0002t0003 a0002c0002t0013 a0002c0002t0019	a0001c0003t0012g0088 a0001c0003t0026g0015 a0002c0002t0003g0251 others(2): Show a0001c0003t0012g0088 a0001c0003t0026g0015 a0002c0002t0003g0251 a0002c0002t0013g0144 a0002c0002t0019g0115	5	298	0.0168	12	c.227 others(31): Show c.2270-4619_2270-4618insGTGTATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69500698	T T	TATATATA others(5): Show TATATATATATAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp2 HG01943.hp1 others(8): Show HG01099.hp2 HG01106.hp2 HG01943.hp1 HG02004.hp2 HG02080.hp2 NA18939.hp2 NA18953.hp1 NA18966.hp1 NA18969.hp1 NA19010.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 others(4): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0023 a0002c0002t0050 a0002c0002t0128 a0002c0002t0145	a0002c0002t0001g0029 a0002c0002t0003g0227 a0002c0002t0003g0246 others(8): Show a0002c0002t0001g0029 a0002c0002t0003g0227 a0002c0002t0003g0246 a0002c0002t0005g0226 a0002c0002t0005g0229 a0002c0002t0005g0252 a0002c0002t0005g0253 a0002c0002t0023g0036 a0002c0002t0050g0035 a0002c0002t0128g0237 a0002c0002t0145g0275	11	298	0.0369	12	c.227 others(31): Show c.2270-4619_2270-4618insGTATATATATAT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	16/21			chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)