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 (≤).

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⚠️ 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
ANO5_chr11_22188085_22288357	22286492	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTCTTTTTTTGTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0242 a0002c0003t0001g0242	1	364	0.0028	30	c.67 others(41): Show c.6727_*6728insTTTTTTTTTTTTTCTTTTTTTGTTTTTTTT	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding		3136		chr11	TogoVar
ANO6_chr12_45211095_45437349	45317113	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03471.hp1 HG03669.hp2 HG00642.hp2 HG03471.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0064 a0001c0001t0001g0095 a0001c0001t0002g0227 a0001c0001t0001g0064 a0001c0001t0001g0095 a0001c0001t0002g0227	3	234	0.0128	30	c.151 others(49): Show c.151-14181_151-14180insGTGTGTATATATATATATATATATAT ATAT	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANOS1_chrX_8523874_8737137	8682354	C C	CCACACAC others(23): Show CCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0011 a0002c0002t0008g0011	1	231	0.0043	30	c.255 others(49): Show c.255+17343_255+17344insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	ANOS1	ENSG00000011201.12	transcript	ENST00000262648.8	protein_coding	2/13			chrX	TogoVar
ANOS1_chrX_8523874_8737137	8725639	G G	GATATATA others(23): Show GATATATATACAGATATATATATATACAGAT	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA18977.hp1 NA18990.hp1 others(1): Show HG03492.hp1 NA18977.hp1 NA18990.hp1 NA19062.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0002 a0001c0001t0003 a0007c0009t0003 a0001c0001t0002 a0001c0001t0003 a0007c0009t0003	a0001c0001t0002g0152 a0001c0001t0002g0223 a0001c0001t0003g0206 others(1): Show a0001c0001t0002g0152 a0001c0001t0002g0223 a0001c0001t0003g0206 a0007c0009t0003g0201	4	231	0.0173	30	c.207 others(47): Show c.207+6161_207+6190dupATCTGTATATATATATATCTGTATATAT AT	ANOS1	ENSG00000011201.12	transcript	ENST00000262648.8	protein_coding	1/13			chrX	TogoVar
ANTXR1_chr2_69008179_69254327	69219384	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	206	0.0049	30	c.143 others(51): Show c.1435-25832_1435-25803dupACACACACACACACACACACACAC ACACAC	ANTXR1	ENSG00000169604.21	transcript	ENST00000303714.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANTXR2_chr4_79896146_80078229	79926931	A A	ATGTGTGC others(23): Show ATGTGTGCATATATGTGTATATATACACATG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02886.hp1 HG03579.hp2 others(2): Show HG02145.hp2 HG02886.hp1 HG03579.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0044 a0001c0001t0051 a0001c0001t0070 others(1): Show a0001c0001t0044 a0001c0001t0051 a0001c0001t0070 a0001c0003t0011	a0001c0001t0044g0036 a0001c0001t0051g0098 a0001c0001t0070g0203 others(2): Show a0001c0001t0044g0036 a0001c0001t0051g0098 a0001c0001t0070g0203 a0001c0003t0011g0133 a0001c0003t0011g0134	5	268	0.0187	30	c.142 others(51): Show c.1429-19465_1429-19464insCATGTGTATATATACACATATATG CACACA	ANTXR2	ENSG00000163297.18	transcript	ENST00000403729.7	protein_coding	16/16			chr4	TogoVar
ANTXR2_chr4_79896146_80078229	79926931	A A	ATGTGTGC others(23): Show ATGTGTGCATATATGTGTGTATATACACATG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG01884.hp1 HG02615.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0005 a0004c0005t0026 a0001c0001t0005 a0004c0005t0026	a0001c0001t0005g0061 a0004c0005t0026g0022 a0001c0001t0005g0061 a0004c0005t0026g0022	2	268	0.0075	30	c.142 others(51): Show c.1429-19465_1429-19464insCATGTGTATATACACACATATATG CACACA	ANTXR2	ENSG00000163297.18	transcript	ENST00000403729.7	protein_coding	16/16			chr4	TogoVar
ANTXR2_chr4_79896146_80078229	79926952	T T	TACACATG others(23): Show TACACATGTGCATATATGTGTATATATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01346.hp2 HG02015.hp1 others(9): Show HG00099.hp1 HG01346.hp2 HG02015.hp1 HG02258.hp2 HG02615.hp2 HG03139.hp1 HG03209.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03927.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0024 a0001c0001t0032 others(4): Show a0001c0001t0021 a0001c0001t0024 a0001c0001t0032 a0001c0001t0048 a0001c0001t0069 a0001c0001t0071 a0001c0001t0074	a0001c0001t0021g0126 a0001c0001t0021g0127 a0001c0001t0021g0129 others(9): Show a0001c0001t0021g0126 a0001c0001t0021g0127 a0001c0001t0021g0129 a0001c0001t0024g0206 a0001c0001t0024g0227 a0001c0001t0024g0245 a0001c0001t0032g0256 a0001c0001t0032g0257 a0001c0001t0048g0166 a0001c0001t0069g0204 a0001c0001t0071g0254 a0001c0001t0074g0228	12	268	0.0448	30	c.142 others(51): Show c.1429-19486_1429-19485insGTATATATATACACATATATGCAC ATGTGT	ANTXR2	ENSG00000163297.18	transcript	ENST00000403729.7	protein_coding	16/16			chr4	TogoVar
ANTXR2_chr4_79896146_80078229	79926976	T T	TACACATG others(23): Show TACACATGTGCATATATGTGTATATATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00423.hp2 others(54): Show HG00099.hp2 HG00408.hp1 HG00423.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG01071.hp2 HG01099.hp1 HG01169.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01517.hp2 HG01928.hp1 HG01981.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02083.hp1 HG02132.hp1 HG02165.hp2 HG02293.hp1 HG02602.hp2 HG02738.hp1 HG03098.hp1 HG03491.hp2 HG03654.hp1 HG03688.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18747.hp1 NA18943.hp2 NA18948.hp1 NA18953.hp1 NA18963.hp1 NA18968.hp2 NA18977.hp2 NA18988.hp1 NA18990.hp1 NA19000.hp1 NA19009.hp1 NA19011.hp1 NA19057.hp1 NA19062.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA20805.hp1 NA21309.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(13): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0037 a0001c0001t0050 a0001c0001t0052 a0001c0001t0054 a0001c0001t0064 a0001c0001t0072 a0001c0001t0076 a0001c0001t0082 a0006c0006t0073	a0001c0001t0001g0002 a0001c0001t0001g0047 a0001c0001t0001g0066 others(53): Show a0001c0001t0001g0002 a0001c0001t0001g0047 a0001c0001t0001g0066 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0007g0168 a0001c0001t0007g0169 a0001c0001t0007g0185 a0001c0001t0007g0186 a0001c0001t0007g0188 a0001c0001t0007g0192 a0001c0001t0007g0194 a0001c0001t0007g0195 a0001c0001t0007g0198 a0001c0001t0009g0209 a0001c0001t0009g0226 a0001c0001t0009g0232 a0001c0001t0009g0234 a0001c0001t0009g0249 a0001c0001t0014g0095 a0001c0001t0014g0136 a0001c0001t0014g0139 a0001c0001t0014g0150 a0001c0001t0015g0046 a0001c0001t0015g0055 a0001c0001t0015g0086 a0001c0001t0015g0088 a0001c0001t0016g0115 a0001c0001t0016g0154 a0001c0001t0016g0155 a0001c0001t0016g0156 a0001c0001t0018g0018 a0001c0001t0018g0029 a0001c0001t0037g0030 a0001c0001t0050g0142 a0001c0001t0052g0125 a0001c0001t0054g0159 a0001c0001t0064g0201 a0001c0001t0072g0233 a0001c0001t0076g0236 a0001c0001t0082g0262 a0006c0006t0073g0252	57	268	0.2127	30	c.142 others(51): Show c.1429-19510_1429-19509insGTATATATATACACATATATGCAC ATGTGT	ANTXR2	ENSG00000163297.18	transcript	ENST00000403729.7	protein_coding	16/16			chr4	TogoVar
ANTXR2_chr4_79896146_80078229	79972920	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAGAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0122 a0002c0002t0004g0122	1	268	0.0037	30	c.142 others(49): Show c.1428+4700_1428+4701insTTTTTTTTTCTTTTTTTTTTTTTTTT TTTT	ANTXR2	ENSG00000163297.18	transcript	ENST00000403729.7	protein_coding	16/16			chr4	TogoVar
ANTXR2_chr4_79896146_80078229	79972920	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAGAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG00642.hp1 others(6): Show HG00408.hp2 HG00621.hp2 HG00642.hp1 HG00741.hp2 HG02486.hp1 HG03017.hp1 HG03540.hp1 NA18944.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0005 a0002c0002t0008 others(3): Show a0002c0002t0004 a0002c0002t0005 a0002c0002t0008 a0002c0002t0017 a0002c0002t0025 a0002c0002t0065	a0002c0002t0004g0079 a0002c0002t0004g0109 a0002c0002t0004g0163 others(6): Show a0002c0002t0004g0079 a0002c0002t0004g0109 a0002c0002t0004g0163 a0002c0002t0005g0097 a0002c0002t0008g0024 a0002c0002t0017g0170 a0002c0002t0017g0193 a0002c0002t0025g0237 a0002c0002t0065g0171	9	268	0.0336	30	c.142 others(49): Show c.1428+4700_1428+4701insTTTTTTTTTTCTTTTTTTTTTTTTTT TTTT	ANTXR2	ENSG00000163297.18	transcript	ENST00000403729.7	protein_coding	16/16			chr4	TogoVar
ANTXRL_chr10_46281997_46335129	46295583	G G	GGTTAGAG others(23): Show GGTTAGAGTTAGAGTTAGAGTTAGAGTTAGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02293.hp1 HG02735.hp1 others(2): Show HG00423.hp2 HG02293.hp1 HG02735.hp1 NA18747.hp2 NA18955.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0003c0013 others(1): Show a0001c0002 a0001c0003 a0003c0013 a0003c0014	a0001c0002t0001 a0001c0003t0001 a0003c0013t0002 others(1): Show a0001c0002t0001 a0001c0003t0001 a0003c0013t0002 a0003c0014t0002	a0001c0002t0001g0123 a0001c0003t0001g0122 a0003c0013t0002g0051 others(2): Show a0001c0002t0001g0123 a0001c0003t0001g0122 a0003c0013t0002g0051 a0003c0014t0002g0045 a0003c0014t0002g0046	5	369	0.0136	30	c.393 others(45): Show c.393-424_393-395dupAGTTAGAGTTAGAGTTAGAGTTAGAGTTAG	ANTXRL	ENSG00000274209.6	transcript	ENST00000620264.5	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANXA10_chr4_168087537_168192736	168096911	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	284	0.0035	30	c.18+ others(45): Show c.18+4211_18+4212insATATATATATATATATATATATATATATAT	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA10_chr4_168087537_168192736	168096926	A A	ATATATAT others(23): Show ATATATATGTATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03225.hp2 NA18951.hp1 others(6): Show HG03139.hp2 HG03225.hp2 NA18951.hp1 NA18970.hp1 NA18974.hp2 NA19004.hp2 NA19011.hp1 NA19063.hp1 NA19066.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 a0001c0001t0001 a0002c0002t0001 a0004c0005t0001	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(6): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0097 a0001c0001t0001g0239 a0002c0002t0001g0044 a0004c0005t0001g0048 a0004c0005t0001g0049 a0004c0005t0001g0050	9	284	0.0317	30	c.18+ others(45): Show c.18+4211_18+4212insATATGTATATATATATATATATATATGTAT	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA10_chr4_168087537_168192736	168096926	A A	ATATATGT others(23): Show ATATATGTATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	284	0.0035	30	c.18+ others(45): Show c.18+4211_18+4212insATGTATATATATATATATATATATATGTAT	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA2R_chr5_43034371_43045319	43043790	T T	TATATATT others(23): Show TATATATTATATAAAATATATATAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	296	0.0034	30	c.-37 others(41): Show c.-3745_-3744insTATATATTATATATATTTTATATAATATAT	ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding		3472		chr5	TogoVar
ANXA2_chr15_60342151_60402986	60398993	C C	CGAGAGAG others(23): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	334	0.0030	30	c.-10 others(41): Show c.-1092_-1063dupTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding		1008		chr15	TogoVar
ANXA2_chr15_60342151_60402986	60399021	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 NA18945.hp1 NA18952.hp1 others(2): Show HG02602.hp2 NA18945.hp1 NA18952.hp1 NA19000.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0119 others(2): Show a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0119 a0001c0001t0001g0142 a0001c0001t0001g0146	5	334	0.0150	30	c.-10 others(41): Show c.-1091_-1090insACTCTCTCTCTCTCTCTCTCTCTCTCTCTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding		1036		chr15	TogoVar
ANXA2_chr15_60342151_60402986	60399021	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00642.hp2 others(29): Show HG00408.hp1 HG00408.hp2 HG00642.hp2 HG01081.hp1 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01981.hp1 HG02040.hp2 HG02080.hp2 HG02129.hp1 HG02148.hp2 HG02602.hp1 HG02735.hp1 HG02818.hp1 HG02895.hp2 HG03195.hp2 HG03225.hp1 NA18747.hp1 NA18949.hp2 NA18957.hp1 NA18966.hp1 NA18969.hp2 NA18985.hp1 NA18995.hp1 NA18995.hp2 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0083 others(29): Show a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0237 a0001c0001t0002g0331 a0001c0003t0001g0098 a0001c0003t0001g0129 a0001c0003t0001g0134 a0001c0003t0001g0136 a0002c0002t0001g0140 a0002c0002t0001g0161	32	334	0.0958	30	c.-10 others(41): Show c.-1091_-1090insACTCCCTCTCTCTCTCTCTCTCTCTCTCTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding		1036		chr15	TogoVar
ANXA4_chr2_69737134_69832112	69757238	T T	TTTTTTAT others(23): Show TTTTTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0310 a0001c0001t0005g0310	1	346	0.0029	30	c.-47 others(49): Show c.-47+15064_-47+15065insTTTTATATATATATATATATATATAT ATAT	ANXA4	ENSG00000196975.16	transcript	ENST00000394295.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANXA6_chr5_151095706_151162779	151140594	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02698.hp1 HG01496.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0091 a0001c0001t0002g0205 a0001c0001t0001g0091 a0001c0001t0002g0205	2	408	0.0049	30	c.19- others(43): Show c.19-352_19-351insAATATATATATATATATATATATATATATA	ANXA6	ENSG00000197043.15	transcript	ENST00000354546.10	protein_coding	2/25			chr5	TogoVar
AOAH_chr7_36507941_36729494	36517214	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTTTCTCTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01071.hp1 others(15): Show HG00140.hp1 HG00741.hp1 HG01071.hp1 HG01255.hp1 HG01975.hp1 HG02015.hp1 HG02040.hp1 HG02300.hp2 HG03710.hp2 NA18955.hp1 NA18961.hp1 NA18975.hp2 NA18983.hp1 NA18988.hp2 NA19066.hp1 NA19076.hp2 NA19090.hp1 NA19240.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0006c0010	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0006c0010t0002	a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0049 others(15): Show a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0101 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0003t0001g0269 a0001c0003t0001g0282 a0002c0002t0001g0179 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0214 a0002c0002t0001g0218 a0002c0002t0001g0220 a0002c0002t0001g0246 a0006c0010t0002g0204	18	306	0.0588	30	c.160 others(49): Show c.1600-3835_1600-3834insAAGAGAAAAAGAAAGAAAGAAAGAAA GAAA	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	20/20			chr7	TogoVar
AOAH_chr7_36507941_36729494	36678600	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0270 a0001c0003t0001g0270	1	306	0.0033	30	c.224 others(47): Show c.224-4592_224-4591insGCGCGCGCGCACACACACACACACACAC AC	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	2/20			chr7	TogoVar
AOPEP_chr9_94721699_95092159	94728239	G G	GCGCGCGC others(23): Show GCGCGCGCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0141 a0001c0001t0001g0142	2	182	0.0110	30	c.-13 others(49): Show c.-136+1489_-136+1490insGCGCGCGCGCGCACACACACACACAC ACAC	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
AOPEP_chr9_94721699_95092159	94743211	G G	GGAAGAAG others(23): Show GGAAGAAGAGGAAGAAGAGGAAGAAGAGGAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0180 a0003c0003t0001g0180	1	182	0.0055	30	c.-13 others(51): Show c.-135-16421_-135-16420insGGAAGAAGAGGAAGAAGAAGAGGA AGAAGA	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
AOX1_chr2_200581014_200676495	200657165	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03209.hp1 HG03453.hp1 HG02723.hp2 HG03209.hp1 HG03453.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0004 a0001c0001t0001 a0003c0003t0004	a0001c0001t0001g0275 a0003c0003t0004g0073 a0003c0003t0004g0092 a0001c0001t0001g0275 a0003c0003t0004g0073 a0003c0003t0004g0092	3	370	0.0081	30	c.317 others(47): Show c.3171+229_3171+230insAAAAAAAAAAAAAAAATATATATATATA TA	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AP1M2_chr19_10567671_10592312	10570547	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 NA19082.hp1 HG00673.hp2 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0177 a0001c0002t0002g0262 a0001c0002t0002g0177 a0001c0002t0002g0262	2	394	0.0051	30	c.25 others(41): Show c.2518_*2519insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding		2123		chr19	TogoVar
AP1M2_chr19_10567671_10592312	10585291	G G	GAAAGAAG others(23): Show GAAAGAAGGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0040 a0001c0002t0004g0040	1	394	0.0025	30	c.43- others(45): Show c.43-1222_43-1221insTTCTTTCTTTCTTTCTTTCTTTCCTTCTTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/11			chr19	TogoVar
AP1S2_chrX_15820806_15859813	15834439	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	318	0.0031	30	c.427 others(47): Show c.427-6269_427-6240dupATATATATATATATATATATATATATAT AT	AP1S2	ENSG00000182287.15	transcript	ENST00000672987.1	protein_coding	4/5			chrX	TogoVar
AP1S3_chr2_223750326_223842582	223756338	G G	GGAAGAAA others(23): Show GGAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0077 a0001c0001t0050g0077	1	340	0.0029	30	c.23 others(41): Show c.2376_*2377insTCTTTTCTTTTCTTTTCTTTTCTTTTCTTC	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	5/5	2376		chr2	TogoVar
AP1S3_chr2_223750326_223842582	223756338	G G	GGAAGAAA others(23): Show GGAAGAAAAGAAAAGAAAAGAAAATAAAAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0074 a0001c0001t0048g0074	1	340	0.0029	30	c.23 others(41): Show c.2376_*2377insTCTTTTATTTTCTTTTCTTTTCTTTTCTTC	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	5/5	2376		chr2	TogoVar
AP2A2_chr11_920870_1017240	935603	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03516.hp2 NA18985.hp2 others(1): Show HG01081.hp2 HG03516.hp2 NA18985.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0006 a0001c0002t0002 a0001c0003t0006	a0001c0002t0002g0167 a0001c0002t0002g0245 a0001c0002t0002g0252 others(1): Show a0001c0002t0002g0167 a0001c0002t0002g0245 a0001c0002t0002g0252 a0001c0003t0006g0264	4	268	0.0149	30	c.67+ others(45): Show c.67+9537_67+9538insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2S1_chr19_46833167_46855846	46833424	G G	GGAGAAGA others(23): Show GGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	424	0.0024	30	c.50 others(41): Show c.5022_*5023insTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding		4742		chr19	TogoVar
AP2S1_chr19_46833167_46855846	46833427	A A	AAAGAGAA others(23): Show AAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02965.hp1 HG03098.hp2 others(4): Show HG01891.hp2 HG02965.hp1 HG03098.hp2 NA18945.hp1 NA18991.hp2 NA19070.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0014 a0001c0001t0001g0151 a0001c0001t0001g0184 others(4): Show a0001c0001t0001g0014 a0001c0001t0001g0151 a0001c0001t0001g0184 a0001c0001t0001g0290 a0001c0001t0001g0307 a0001c0001t0002g0317 a0001c0001t0004g0203	7	424	0.0165	30	c.50 others(41): Show c.5019_*5020insCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT	AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding		4739		chr19	TogoVar
AP2S1_chr19_46833167_46855846	46833445	G G	GAGAAGAG others(23): Show GAGAAGAGAAGAGAAGAGAAGAGAAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	424	0.0024	30	c.50 others(41): Show c.5001_*5002insTCTCTCTTCTCTTCTCTTCTCTTCTCTTCT	AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding		4721		chr19	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	226	0.0044	30	c.787 others(49): Show c.787-12109_787-12108insAAAAAAAATATATATATATATATATA TATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	226	0.0044	30	c.787 others(49): Show c.787-12109_787-12108insAAAAAAAAAAAATATATATATATATA TATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP4E1_chr15_50903683_51010895	50964955	C C	CCCCACAC others(23): Show CCCCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02004.hp1 NA18992.hp1 HG01943.hp2 HG02004.hp1 NA18992.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0028 a0002c0003t0003g0029 a0002c0003t0003g0030 a0002c0003t0003g0028 a0002c0003t0003g0029 a0002c0003t0003g0030	3	392	0.0077	30	c.185 others(49): Show c.1852-3307_1852-3306insCCACACACACACACACACACACACAC ACAC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	51007479	C C	CTGGATTT others(23): Show CTGGATTTTGGCCATTCTAATAGGTGTGTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	392	0.0026	30	c.48 others(41): Show c.4817_*4818insTGGATTTTGGCCATTCTAATAGGTGTGTAG	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding		1585		chr15	TogoVar
AP4S1_chr14_31020649_31101450	31096670	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0193 a0001c0001t0028g0193	1	346	0.0029	30	c.36 others(41): Show c.3635_*3636insATATATATATATATATATATATATATATAT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding		221		chr14	TogoVar
APAF1_chr12_98640290_98740433	98665255	C C	CACATATA others(23): Show CACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0158	1	366	0.0027	30	c.956 others(45): Show c.956-297_956-296insCATATATATATATATATATATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98665255	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18942.hp2 NA18962.hp2 others(2): Show HG03927.hp2 NA18942.hp2 NA18962.hp2 NA18963.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0131 a0001c0001t0003g0136 a0001c0001t0003g0137 others(2): Show a0001c0001t0003g0131 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0175 a0001c0001t0004g0198	5	366	0.0137	30	c.956 others(45): Show c.956-274_956-273insATATATATATATATATATATATATATATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98665278	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0144 a0001c0001t0003g0145	2	366	0.0055	30	c.956 others(45): Show c.956-274_956-273insATATATATATATATATATATATATATATTT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98707692	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0316 a0001c0001t0002g0317	2	366	0.0055	30	c.272 others(47): Show c.2722-873_2722-872insTATATATATATATATATATATATATATA TA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APBA1_chr9_69422532_69677371	69636828	A A	AGAGAGGG others(23): Show AGAGAGGGAGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18964.hp2 NA19009.hp2 NA18946.hp2 NA18964.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0085 a0001c0001t0002g0199 a0001c0001t0002g0065 a0001c0001t0002g0085 a0001c0001t0002g0199	3	210	0.0143	30	c.-70 others(49): Show c.-70+35324_-70+35325insCCTCCCTCCCTCCCTCCCTCCCTCCC TCTC	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69658282	T T	TTTTCTTT others(23): Show TTTTCTTTCTTTCTTTCTTTCTTTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18979.hp2 NA18944.hp1 NA18979.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0086 a0002c0002t0003g0141 a0001c0001t0001g0086 a0002c0002t0003g0141	2	210	0.0095	30	c.-70 others(49): Show c.-70+13870_-70+13871insGAGAGAGAAAGAAAGAAAGAAAGAAA GAAA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA2_chr15_28880974_29123315	28987725	G G	GACATATA others(23): Show GACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0040 a0002c0002t0021g0040	1	204	0.0049	30	c.-94 others(47): Show c.-94-8027_-94-8026insCATATATATATATATATATATATATATA TA	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	28987725	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18940.hp2 HG02083.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0042 a0001c0001t0002 a0001c0001t0042	a0001c0001t0002g0153 a0001c0001t0042g0097 a0001c0001t0002g0153 a0001c0001t0042g0097	2	204	0.0098	30	c.-94 others(47): Show c.-94-8027_-94-8026insTATATATATATATATATATATATATATA TA	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBB2_chr4_40805027_41219542	40964753	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG01358.hp1 others(8): Show HG00558.hp1 HG00558.hp2 HG01358.hp1 HG02165.hp2 HG02717.hp1 HG02738.hp1 NA18955.hp2 NA18970.hp1 NA18990.hp1 NA19066.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0004c0007	a0001c0002t0001 a0001c0002t0002 a0001c0002t0038 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0038 a0001c0002t0043 a0001c0003t0001 a0002c0001t0023 a0004c0007t0007	a0001c0002t0001g0039 a0001c0002t0001g0070 a0001c0002t0002g0071 others(8): Show a0001c0002t0001g0039 a0001c0002t0001g0070 a0001c0002t0002g0071 a0001c0002t0002g0098 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0038g0051 a0001c0002t0043g0169 a0001c0003t0001g0185 a0002c0001t0023g0184 a0004c0007t0007g0056	11	192	0.0573	30	c.836 others(49): Show c.836-19681_836-19680insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	41159907	A A	AAGGAGAA others(23): Show AAGGAGAAGGAGAAGGAGAAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0069 a0001c0003t0001g0069	1	192	0.0052	30	c.-41 others(51): Show c.-416-16766_-416-16765insCCTCCTCCTCCTTCTCCTTCTCCT TCTCCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar

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Search Results (Total: 10000 hits)