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
AGMO_chr7_15195317_15567015	15354496	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02080.hp1 HG02280.hp1 others(8): Show HG01261.hp2 HG02080.hp1 HG02280.hp1 HG02486.hp1 HG02572.hp2 HG02717.hp1 HG03225.hp2 NA18945.hp1 NA19012.hp1 NA19063.hp2 NA21309.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0014 a0016	a0001c0001 a0002c0002 a0002c0019 others(3): Show a0001c0001 a0002c0002 a0002c0019 a0006c0012 a0014c0014 a0016c0022	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0019t0001 a0006c0012t0001 a0014c0014t0001 a0016c0022t0004	a0001c0001t0001g0067 a0001c0001t0001g0093 a0001c0001t0001g0153 others(8): Show a0001c0001t0001g0067 a0001c0001t0001g0093 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0002g0158 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0019t0001g0066 a0006c0012t0001g0222 a0014c0014t0001g0180 a0016c0022t0004g0020	11	236	0.0466	-14	c.126 others(35): Show c.1263+11004_1263+11017delTATATATATATATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15357190	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03209.hp1 HG03453.hp2 HG02922.hp2 HG03209.hp1 HG03453.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0003c0009t0007 a0001c0001t0001 a0003c0009t0007	a0001c0001t0001g0019 a0001c0001t0001g0203 a0003c0009t0007g0005 a0001c0001t0001g0019 a0001c0001t0001g0203 a0003c0009t0007g0005	3	236	0.0127	-14	c.126 others(33): Show c.1263+8310_1263+8323delACACACACACACAC	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15555280	TATATATA others(7): Show TATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	236	0.0042	-14	c.257 others(31): Show c.257+4847_257+4860delGTATATATATATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	2/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15555282	TATATATA others(7): Show TATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18951.hp2 HG00597.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0101 a0001c0001t0002g0100 a0001c0001t0001g0101 a0001c0001t0002g0100	2	236	0.0085	-14	c.257 others(31): Show c.257+4845_257+4858delGTGTATATATATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	2/12			chr7	TogoVar
AGO1_chr1_35878209_35935532	35933640	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	278	0.0036	-14	c.14 others(27): Show c.14034_*14047delAAAAAAAAAAAAAA	AGO1	ENSG00000092847.14	transcript	ENST00000373204.6	protein_coding		3109		chr1	TogoVar
AGO2_chr8_140515156_140640633	140552740	GCACACAC others(7): Show GCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00438.hp1 others(148): Show HG00099.hp2 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18947.hp1 NA18948.hp2 NA18954.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18969.hp2 NA18971.hp2 NA18977.hp2 NA18985.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0019 a0001c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(71): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0048 a0001c0001t0049 a0001c0001t0053 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0069 a0001c0001t0070 a0001c0001t0072 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0085 a0001c0001t0086 a0001c0001t0088 a0001c0001t0089 a0001c0001t0107 a0001c0001t0108 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0121 a0001c0001t0122 a0001c0001t0136 a0001c0001t0139 a0001c0001t0140 a0001c0003t0001 a0001c0005t0007 a0001c0005t0017 a0001c0005t0019 a0001c0005t0024 a0001c0005t0031 a0001c0005t0058 a0001c0005t0063 a0001c0005t0100 a0001c0005t0120 a0001c0013t0001 a0001c0014t0087 a0001c0015t0001 a0001c0016t0109 a0001c0019t0001 a0001c0020t0056	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 others(148): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0108 a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0279 a0001c0001t0001g0286 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0024 a0001c0001t0003g0029 a0001c0001t0003g0054 a0001c0001t0003g0060 a0001c0001t0003g0066 a0001c0001t0003g0096 a0001c0001t0003g0117 a0001c0001t0003g0227 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0335 a0001c0001t0005g0136 a0001c0001t0009g0003 a0001c0001t0009g0020 a0001c0001t0009g0030 a0001c0001t0009g0056 a0001c0001t0009g0112 a0001c0001t0009g0116 a0001c0001t0013g0174 a0001c0001t0013g0176 a0001c0001t0013g0177 a0001c0001t0014g0194 a0001c0001t0015g0038 a0001c0001t0015g0078 a0001c0001t0015g0079 a0001c0001t0015g0092 a0001c0001t0020g0057 a0001c0001t0020g0093 a0001c0001t0020g0094 a0001c0001t0020g0095 a0001c0001t0021g0181 a0001c0001t0023g0002 a0001c0001t0023g0303 a0001c0001t0023g0304 a0001c0001t0026g0099 a0001c0001t0028g0009 a0001c0001t0028g0010 a0001c0001t0029g0156 a0001c0001t0029g0182 a0001c0001t0029g0183 a0001c0001t0036g0147 a0001c0001t0036g0149 a0001c0001t0037g0044 a0001c0001t0037g0333 a0001c0001t0038g0113 a0001c0001t0038g0143 a0001c0001t0039g0052 a0001c0001t0039g0259 a0001c0001t0040g0051 a0001c0001t0040g0100 a0001c0001t0042g0053 a0001c0001t0042g0157 a0001c0001t0043g0121 a0001c0001t0043g0122 a0001c0001t0044g0144 a0001c0001t0044g0145 a0001c0001t0048g0045 a0001c0001t0049g0001 a0001c0001t0053g0155 a0001c0001t0065g0198 a0001c0001t0066g0106 a0001c0001t0067g0105 a0001c0001t0069g0098 a0001c0001t0070g0188 a0001c0001t0072g0305 a0001c0001t0075g0141 a0001c0001t0076g0123 a0001c0001t0077g0258 a0001c0001t0078g0031 a0001c0001t0079g0110 a0001c0001t0080g0225 a0001c0001t0081g0042 a0001c0001t0082g0037 a0001c0001t0083g0207 a0001c0001t0085g0185 a0001c0001t0086g0261 a0001c0001t0088g0085 a0001c0001t0089g0027 a0001c0001t0107g0124 a0001c0001t0108g0162 a0001c0001t0110g0289 a0001c0001t0111g0028 a0001c0001t0112g0022 a0001c0001t0113g0128 a0001c0001t0114g0097 a0001c0001t0116g0159 a0001c0001t0117g0111 a0001c0001t0118g0035 a0001c0001t0121g0120 a0001c0001t0122g0134 a0001c0001t0136g0193 a0001c0001t0139g0146 a0001c0001t0140g0331 a0001c0003t0001g0313 a0001c0005t0007g0015 a0001c0005t0007g0065 a0001c0005t0007g0087 a0001c0005t0007g0089 a0001c0005t0007g0191 a0001c0005t0007g0321 a0001c0005t0007g0329 a0001c0005t0017g0201 a0001c0005t0019g0107 a0001c0005t0019g0184 a0001c0005t0019g0221 a0001c0005t0024g0115 a0001c0005t0024g0315 a0001c0005t0024g0316 a0001c0005t0031g0016 a0001c0005t0031g0017 a0001c0005t0058g0192 a0001c0005t0063g0299 a0001c0005t0100g0167 a0001c0005t0120g0173 a0001c0013t0001g0026 a0001c0014t0087g0150 a0001c0015t0001g0025 a0001c0016t0109g0131 a0001c0019t0001g0161 a0001c0020t0056g0172	151	338	0.4468	-14	c.127 others(33): Show c.1270-1318_1270-1305delTGTGTGTGTGTGTG	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	10/18			chr8	TogoVar
AGO2_chr8_140515156_140640633	140607458	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02080.hp2 HG02738.hp2 others(15): Show HG00408.hp1 HG02080.hp2 HG02738.hp2 HG02965.hp2 HG03710.hp2 HG03831.hp1 HG04115.hp1 HG04115.hp2 NA18747.hp2 NA18948.hp1 NA18956.hp2 NA18964.hp1 NA18971.hp1 NA18985.hp1 NA18992.hp2 NA19003.hp1 NA19043.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0001c0001t0082 a0001c0001t0114 a0001c0002t0004 a0001c0002t0125 a0001c0002t0141 a0001c0004t0005 a0001c0004t0135	a0001c0001t0001g0046 a0001c0001t0003g0006 a0001c0001t0003g0024 others(15): Show a0001c0001t0001g0046 a0001c0001t0003g0006 a0001c0001t0003g0024 a0001c0001t0003g0060 a0001c0001t0003g0066 a0001c0001t0009g0030 a0001c0001t0015g0038 a0001c0001t0015g0078 a0001c0001t0082g0037 a0001c0001t0114g0097 a0001c0002t0004g0021 a0001c0002t0004g0224 a0001c0002t0004g0282 a0001c0002t0125g0284 a0001c0002t0141g0080 a0001c0004t0005g0005 a0001c0004t0005g0061 a0001c0004t0135g0004	18	338	0.0533	-14	c.23- others(31): Show c.23-22161_23-22148delTATATATATATATA	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AGO2_chr8_140515156_140640633	140612220	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02738.hp2 others(3): Show HG01070.hp2 HG01071.hp2 HG02738.hp2 HG03239.hp2 HG03654.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0002t0091 a0001c0002t0125 a0001c0001t0020 a0001c0002t0091 a0001c0002t0125	a0001c0001t0020g0057 a0001c0001t0020g0093 a0001c0001t0020g0094 others(3): Show a0001c0001t0020g0057 a0001c0001t0020g0093 a0001c0001t0020g0094 a0001c0001t0020g0095 a0001c0002t0091g0036 a0001c0002t0125g0284	6	338	0.0178	-14	c.22+ others(31): Show c.22+23251_22+23264delTTTTTTTTTTTTTT	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AGO3_chr1_35926105_36077500	35933640	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0244 a0001c0001t0004g0244	1	258	0.0039	-14	c.19+ others(29): Show c.19+2214_19+2227delAAAAAAAAAAAAAA	AGO3	ENSG00000126070.20	transcript	ENST00000373191.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGO3_chr1_35926105_36077500	35968278	CATATGTA others(7): Show CATATGTAACATAAA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	258	0.0039	-14	c.312 others(31): Show c.312+1206_312+1219delATGTAACATAAAAT	AGO3	ENSG00000126070.20	transcript	ENST00000373191.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGO3_chr1_35926105_36077500	36024136	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0120 a0001c0001t0033g0120	1	258	0.0039	-14	c.140 others(33): Show c.1407-2971_1407-2958delTTTTTTTTTTTTTT	AGO3	ENSG00000126070.20	transcript	ENST00000373191.9	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGO4_chr1_35803016_35862890	35859974	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG02486.hp1 HG02559.hp2 others(2): Show HG01069.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 others(2): Show a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0010g0246	5	270	0.0185	-14	c.63 others(25): Show c.6370_*6383delTTTTTTTTTTTTTT	AGO4	ENSG00000134698.11	transcript	ENST00000373210.4	protein_coding		2085		chr1	TogoVar
AGPAT3_chr21_43860223_43992592	43865192	CGGGATGG others(7): Show CGGGATGGGGGCCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	342	0.0029	-14	c.-26 others(23): Show c.-264_-251delGGGATGGGGGCCGG	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding		30		chr21	TogoVar
AGPAT3_chr21_43860223_43992592	43904065	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp1 HG02559.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0037 a0001c0001t0036 a0001c0001t0037	a0001c0001t0036g0094 a0001c0001t0037g0304 a0001c0001t0036g0094 a0001c0001t0037g0304	2	342	0.0059	-14	c.-49 others(27): Show c.-49+71_-49+84delGTGTGTGTGTGTGT	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
AGPAT3_chr21_43860223_43992592	43926636	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA20129.hp1 HG03486.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0057 a0001c0001t0051 a0001c0001t0057	a0001c0001t0051g0207 a0001c0001t0057g0208 a0001c0001t0051g0207 a0001c0001t0057g0208	2	342	0.0059	-14	c.-49 others(33): Show c.-49+22633_-49+22646delTTTTTTTTTTTTTT	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
AGPAT3_chr21_43860223_43992592	43931922	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG00099.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0076 a0001c0001t0004 a0001c0001t0076	a0001c0001t0004g0278 a0001c0001t0076g0279 a0001c0001t0004g0278 a0001c0001t0076g0279	2	342	0.0059	-14	c.-48 others(33): Show c.-48-27681_-48-27668delGTGTGTGTGTGTGT	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
AGPAT3_chr21_43860223_43992592	43990840	TATATACA others(7): Show TATATACATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0315 a0001c0001t0058g0315	1	342	0.0029	-14	c.84 others(25): Show c.8449_*8462delATATACATATATAC	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding		3249		chr21	TogoVar
AGPAT3_chr21_43860223_43992592	43990931	GTGTGTGT others(7): Show GTGTGTGTGTATGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0298 a0001c0002t0048g0298	1	342	0.0029	-14	c.85 others(25): Show c.8540_*8553delTGTGTGTGTATGTA	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding		3340		chr21	TogoVar
AGPAT3_chr21_43860223_43992592	43990937	GTGTATGT others(7): Show GTGTATGTATGTATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG02040.hp1 HG00323.hp2 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0008 a0001c0001t0011	a0001c0001t0008g0143 a0001c0001t0011g0166 a0001c0001t0008g0143 a0001c0001t0011g0166	2	342	0.0059	-14	c.85 others(25): Show c.8546_*8559delTGTATGTATGTATA	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding		3346		chr21	TogoVar
AGPAT4_chr6_161124967_161279061	161160104	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0024 a0001c0001t0051g0024	1	264	0.0038	-14	c.349 others(31): Show c.349-5808_349-5795delAAAAAAAAAAAAAA	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	3/8			chr6	TogoVar
AGPAT4_chr6_161124967_161279061	161170469	GCGCGCAC others(7): Show GCGCGCACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0158 a0001c0001t0010g0158	1	264	0.0038	-14	c.179 others(31): Show c.179-4066_179-4053delTGTGTGTGTGCGCG	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	2/8			chr6	TogoVar
AGPAT4_chr6_161124967_161279061	161194619	CATGTGTG others(7): Show CATGTGTGTATGTGT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03225.hp2 NA18955.hp1 HG02040.hp1 HG03225.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0047 a0001c0002t0004 a0001c0002t0039 a0001c0001t0047 a0001c0002t0004 a0001c0002t0039	a0001c0001t0047g0197 a0001c0002t0004g0083 a0001c0002t0039g0119 a0001c0001t0047g0197 a0001c0002t0004g0083 a0001c0002t0039g0119	3	264	0.0114	-14	c.179 others(33): Show c.179-28216_179-28203delACACATACACACAT	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	2/8			chr6	TogoVar
AGPAT4_chr6_161124967_161279061	161233109	CCACACAC others(7): Show CCACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp2 HG02970.hp1 others(2): Show HG02630.hp2 HG02647.hp2 HG02970.hp1 HG03516.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0015 a0001c0001t0037 others(1): Show a0001c0001t0008 a0001c0001t0015 a0001c0001t0037 a0001c0001t0038	a0001c0001t0008g0210 a0001c0001t0015g0211 a0001c0001t0015g0212 others(2): Show a0001c0001t0008g0210 a0001c0001t0015g0211 a0001c0001t0015g0212 a0001c0001t0037g0213 a0001c0001t0038g0209	5	264	0.0189	-14	c.-89 others(29): Show c.-89-821_-89-808delTGTGTGTGTGTGTG	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	1/8			chr6	TogoVar
AGPAT4_chr6_161124967_161279061	161240221	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18955.hp1 NA18974.hp2 others(1): Show HG02135.hp1 NA18955.hp1 NA18974.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0012 a0001c0002t0023 others(1): Show a0001c0001t0005 a0001c0001t0012 a0001c0002t0023 a0001c0002t0039	a0001c0001t0005g0133 a0001c0001t0012g0035 a0001c0002t0023g0050 others(1): Show a0001c0001t0005g0133 a0001c0001t0012g0035 a0001c0002t0023g0050 a0001c0002t0039g0119	4	264	0.0152	-14	c.-89 others(31): Show c.-89-7933_-89-7920delGTGTGTGTGTGTGT	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	1/8			chr6	TogoVar
AGPAT4_chr6_161124967_161279061	161260655	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0070 a0001c0001t0007g0070	1	264	0.0038	-14	c.-90 others(33): Show c.-90+13269_-90+13282delTTTTTTTTTTTTTT	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	1/8			chr6	TogoVar
AGPAT5_chr8_6703642_6766503	6707320	AATATATA others(7): Show AATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0075 a0001c0001t0050g0075	1	404	0.0025	-14	c.-13 others(25): Show c.-1348_-1335delATATATATATATAT	AGPAT5	ENSG00000155189.12	transcript	ENST00000285518.11	protein_coding		1321		chr8	TogoVar
AGR3_chr7_16854412_16886983	16880068	CTTCCCCT others(7): Show CTTCCCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA19054.hp2 NA19063.hp1 NA18969.hp1 NA19054.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101	3	458	0.0066	-14	c.-27 others(31): Show c.-27-1437_-27-1424delAGAAGGAAGGGGAA	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding	1/7			chr7	TogoVar
AGTPBP1_chr9_85541539_85746954	85572004	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00597.hp1 others(49): Show HG00280.hp2 HG00323.hp1 HG00597.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01261.hp2 HG01358.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG02015.hp1 HG02040.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02486.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02896.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03516.hp2 HG03654.hp2 HG03834.hp1 HG03927.hp1 HG04184.hp1 NA18747.hp2 NA18951.hp2 NA18957.hp2 NA18961.hp2 NA18963.hp2 NA18977.hp2 NA18992.hp1 NA18994.hp1 NA19012.hp1 NA19062.hp1 NA19080.hp1 NA19081.hp1 NA19087.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0002t0003 a0001c0011t0001 a0002c0003t0002	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0024 others(49): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0057 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0101 a0001c0001t0001g0141 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0002g0162 a0001c0001t0002g0166 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0224 a0001c0001t0002g0233 a0001c0001t0002g0239 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0284 a0001c0001t0007g0301 a0001c0001t0014g0302 a0001c0002t0003g0290 a0001c0011t0001g0144 a0002c0003t0002g0196 a0002c0003t0002g0200 a0002c0003t0002g0219 a0002c0003t0002g0221	52	302	0.1722	-14	c.350 others(33): Show c.3503+3297_3503+3310delAAAAAAAAAAAAAA	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	25/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85634193	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03098.hp1 HG03579.hp2 others(1): Show HG00323.hp2 HG03098.hp1 HG03579.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0002 a0001c0013t0013 a0001c0001t0002 a0001c0013t0013	a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0168 others(1): Show a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0168 a0001c0013t0013g0295	4	302	0.0133	-14	c.130 others(31): Show c.1303-833_1303-820delTTTTTTTTTTTTTT	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	13/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85698679	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	302	0.0033	-14	c.33- others(29): Show c.33-5880_33-5867delAAAAAAAAAAAAAA	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	2/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85728030	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02976.hp2 HG03491.hp1 HG00408.hp1 HG02976.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0026 a0001c0001t0002g0226 a0001c0001t0005g0270 a0001c0001t0001g0026 a0001c0001t0002g0226 a0001c0001t0005g0270	3	302	0.0099	-14	c.-34 others(33): Show c.-34+13731_-34+13744delGTGTGTGTGTGTGT	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	1/25			chr9	TogoVar
AGXT2_chr5_34993102_35052949	35028558	TGAGAGAG others(7): Show TGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG00621.hp2 others(35): Show HG00140.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01074.hp2 HG01106.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp2 HG01934.hp2 HG01978.hp1 HG02015.hp2 HG02056.hp2 HG02071.hp1 HG02165.hp1 HG02273.hp1 HG02451.hp1 HG02622.hp1 HG03491.hp2 HG03540.hp2 HG03669.hp2 NA18940.hp2 NA18948.hp2 NA18969.hp2 NA18975.hp2 NA18979.hp1 NA18988.hp2 NA18995.hp2 NA19000.hp2 NA19004.hp1 NA19057.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0012	a0001c0001 a0001c0003 a0003c0006 others(9): Show a0001c0001 a0001c0003 a0003c0006 a0003c0012 a0004c0004 a0004c0035 a0005c0005 a0006c0007 a0007c0009 a0007c0018 a0008c0008 a0012c0013	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0003c0006t0002 a0003c0012t0002 a0004c0004t0001 a0004c0004t0004 a0004c0035t0001 a0005c0005t0002 a0006c0007t0001 a0007c0009t0002 a0007c0018t0002 a0008c0008t0001 a0008c0008t0004 a0008c0008t0007 a0012c0013t0002	a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0147 others(35): Show a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0260 a0001c0001t0003g0154 a0001c0001t0003g0174 a0001c0003t0001g0091 a0003c0006t0002g0163 a0003c0006t0002g0196 a0003c0006t0002g0214 a0003c0006t0002g0226 a0003c0006t0002g0237 a0003c0006t0002g0253 a0003c0012t0002g0090 a0004c0004t0001g0230 a0004c0004t0001g0254 a0004c0004t0001g0278 a0004c0004t0001g0294 a0004c0004t0001g0306 a0004c0004t0004g0255 a0004c0035t0001g0347 a0005c0005t0002g0256 a0005c0005t0002g0304 a0005c0005t0002g0305 a0005c0005t0002g0313 a0006c0007t0001g0098 a0006c0007t0001g0113 a0007c0009t0002g0024 a0007c0018t0002g0223 a0008c0008t0001g0369 a0008c0008t0004g0324 a0008c0008t0007g0286 a0012c0013t0002g0259 a0012c0013t0002g0330 a0012c0013t0002g0368	38	384	0.0990	-14	c.770 others(31): Show c.770-2062_770-2049delTCTCTCTCTCTCTC	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	7/13			chr5	TogoVar
AHCTF1_chr1_246834098_246936948	246864846	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	376	0.0027	-14	c.334 others(31): Show c.3348-744_3348-731delTTTTTTTTTTTTTT	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	26/35			chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246898621	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02818.hp1 HG02970.hp1 others(5): Show HG02630.hp2 HG02818.hp1 HG02970.hp1 HG02976.hp2 HG03579.hp2 HG04228.hp2 NA18980.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0011 a0001c0004t0002 others(3): Show a0001c0001t0001 a0001c0001t0011 a0001c0004t0002 a0001c0004t0008 a0001c0004t0015 a0001c0004t0020	a0001c0001t0001g0043 a0001c0001t0011g0338 a0001c0004t0002g0327 others(5): Show a0001c0001t0001g0043 a0001c0001t0011g0338 a0001c0004t0002g0327 a0001c0004t0008g0294 a0001c0004t0008g0325 a0001c0004t0008g0326 a0001c0004t0015g0010 a0001c0004t0020g0147	8	376	0.0213	-14	c.149 others(31): Show c.1495-299_1495-286delGTGTGTGTGTGTGT	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	11/35			chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246898651	CACACACA others(7): Show CACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp2 HG01891.hp2 others(4): Show HG00741.hp2 HG01243.hp2 HG01891.hp2 HG02257.hp1 HG02486.hp2 HG02622.hp1 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0007 a0001c0012 a0004c0021 a0001c0007 a0001c0012 a0004c0021	a0001c0007t0001 a0001c0012t0002 a0004c0021t0006 a0001c0007t0001 a0001c0012t0002 a0004c0021t0006	a0001c0007t0001g0270 a0001c0007t0001g0271 a0001c0007t0001g0272 others(4): Show a0001c0007t0001g0270 a0001c0007t0001g0271 a0001c0007t0001g0272 a0001c0007t0001g0277 a0001c0012t0002g0268 a0001c0012t0002g0269 a0004c0021t0006g0276	7	376	0.0186	-14	c.149 others(31): Show c.1495-329_1495-316delCTGTGTGTGTGTGT	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	11/35			chr1	TogoVar
AHCYL2_chr7_129220030_129435211	129299369	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp1 HG02615.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0017 a0001c0001t0007 a0001c0002t0017	a0001c0001t0007g0288 a0001c0002t0017g0253 a0001c0001t0007g0288 a0001c0002t0017g0253	2	292	0.0069	-14	c.363 others(33): Show c.363+73959_363+73972delTTTTTTTTTTTTTT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129322183	AGGCTGGA others(7): Show AGGCTGGAGTCCAGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA20129.hp1 HG01891.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0283 a0001c0001t0018g0284 a0001c0001t0018g0283 a0001c0001t0018g0284	2	292	0.0069	-14	c.364 others(33): Show c.364-57451_364-57438delTGGAGTCCAGTGGC	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129394207	TGCTGTGA others(7): Show TGCTGTGATGCCCAG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02559.hp2 HG02615.hp2 others(1): Show HG01099.hp1 HG02559.hp2 HG02615.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0285 a0001c0001t0007g0286 a0001c0001t0007g0287 others(1): Show a0001c0001t0007g0285 a0001c0001t0007g0286 a0001c0001t0007g0287 a0001c0001t0007g0288	4	292	0.0137	-14	c.721 others(31): Show c.721-3010_721-2997delTGATGCCCAGGCTG	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHDC1_chr1_27529245_27609144	27608841	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0129 a0001c0001t0004g0129	1	180	0.0056	-14	c.-56 others(25): Show c.-5612_-5599delACACACACACACAC	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding		4698		chr1	TogoVar
AHI1_chr6_135278532_135502740	135328432	TGGTGATC others(7): Show TGGTGATCTATGATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0219 a0001c0003t0002g0219	1	220	0.0046	-14	c.316 others(33): Show c.3166-5122_3166-5109delTATCATAGATCACC	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	24/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135340654	CATACATA others(7): Show CATACATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03486.hp1 NA18906.hp1 others(1): Show HG02258.hp1 HG03486.hp1 NA18906.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0182 others(1): Show a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0182 a0001c0001t0005g0176	4	220	0.0182	-14	c.316 others(35): Show c.3166-17344_3166-17331delATATATATATGTAT	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	24/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135344926	TCACACAC others(7): Show TCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02293.hp2 HG01433.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0001g0121 a0001c0001t0001g0132	2	220	0.0091	-14	c.316 others(35): Show c.3165+13192_3165+13205delTGTGTGTGTGTGTG	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	24/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135361645	TCACACAC others(7): Show TCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0010 a0001c0015t0010	a0001c0015t0010g0104 a0001c0015t0010g0104	1	220	0.0046	-14	c.311 others(33): Show c.3110-3472_3110-3459delTGTGTGTGTGTGTG	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135374098	ATATATAT others(7): Show ATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0008 a0001c0003t0004g0009 a0001c0003t0004g0008 a0001c0003t0004g0009	2	220	0.0091	-14	c.311 others(35): Show c.3110-15925_3110-15912delAAAATATATATATA	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135374102	ATATATAT others(7): Show ATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0017 a0001c0003t0004g0017	1	220	0.0046	-14	c.311 others(35): Show c.3110-15929_3110-15916delAAAAAAAATATATA	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135376881	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0008 a0001c0003t0004g0009 a0001c0003t0004g0008 a0001c0003t0004g0009	2	220	0.0091	-14	c.310 others(35): Show c.3109+17881_3109+17894delTTTTTTTTTTTTTT	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135382920	AAAAAAAA others(7): Show AAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	220	0.0046	-14	c.310 others(35): Show c.3109+11842_3109+11855delATATATATTTTTTT	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135472018	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0180 a0001c0016t0002g0180	1	220	0.0046	-14	c.136 others(31): Show c.136-4398_136-4385delTTTTTTTTTTTTTT	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	5/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135502502	CTGTATTA others(7): Show CTGTATTAGTTTGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01891.hp2 HG02055.hp1 others(17): Show HG01496.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02451.hp2 HG02559.hp2 HG02630.hp1 HG02647.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03041.hp2 HG03130.hp1 HG03516.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0017 a0001c0010t0014	a0001c0001t0002g0041 a0001c0001t0003g0018 a0001c0001t0003g0032 others(17): Show a0001c0001t0002g0041 a0001c0001t0003g0018 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0004g0048 a0001c0001t0012g0019 a0001c0001t0017g0036 a0001c0010t0014g0020	20	220	0.0909	-14	c.-51 others(25): Show c.-5135_-5122delAGCAAACTAATACA	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding		4763		chr6	TogoVar
AHRR_chr5_316714_443285	441497	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0163 a0002c0002t0011g0163	1	268	0.0037	-14	c.66 others(25): Show c.6664_*6677delTTTTTTTTTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3213		chr5	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)