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
AP3B1_chr5_77997326_78299698	78055016	GACACACA others(3): Show GACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03516.hp2 NA18992.hp2 others(1): Show HG01496.hp1 HG03516.hp2 NA18992.hp2 NA19002.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0002 a0006c0013t0002 a0001c0001t0002 a0006c0013t0002	a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0023 others(1): Show a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0023 a0006c0013t0002g0193	4	226	0.0177	-10	c.257 others(31): Show c.2578-15752_2578-15743delGTGTGTGTGT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	22/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78080623	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18988.hp2 HG02809.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0002 a0001c0002t0002 a0001c0004t0002	a0001c0002t0002g0154 a0001c0004t0002g0007 a0001c0002t0002g0154 a0001c0004t0002g0007	2	226	0.0089	-10	c.257 others(29): Show c.2577+8760_2577+8769delAAAAAAAAAA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	22/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78129522	AGCAGCCA others(3): Show AGCAGCCATGT	A A	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	226	0.0044	-10	c.165 others(27): Show c.1651-225_1651-216delACATGGCTGC	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	15/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78166117	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG01070.hp1 others(42): Show HG00280.hp2 HG00735.hp1 HG01070.hp1 HG01175.hp1 HG01515.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG02074.hp1 HG02148.hp2 HG02615.hp1 HG02615.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03540.hp1 HG03704.hp2 HG04199.hp2 HG06807.hp1 NA18947.hp1 NA18950.hp1 NA18956.hp2 NA18964.hp1 NA18969.hp1 NA18971.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA19002.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19064.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19081.hp2 NA19083.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0008	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0007 a0007c0014 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0004t0002 a0002c0003t0001 a0003c0007t0002 a0007c0014t0002 a0008c0011t0002	a0001c0001t0001g0008 a0001c0001t0001g0147 a0001c0001t0001g0149 others(42): Show a0001c0001t0001g0008 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0213 a0001c0001t0002g0159 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0160 a0001c0002t0002g0162 a0001c0002t0002g0166 a0001c0002t0002g0168 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0004t0002g0001 a0001c0004t0002g0002 a0001c0004t0002g0186 a0001c0004t0002g0226 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0086 a0003c0007t0002g0072 a0003c0007t0002g0079 a0003c0007t0002g0081 a0003c0007t0002g0141 a0003c0007t0002g0148 a0007c0014t0002g0196 a0008c0011t0002g0165	45	226	0.1991	-10	c.116 others(27): Show c.1168-455_1168-446delTGTGTGTGTG	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	11/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78189869	CAAATAAA others(3): Show CAAATAAAATA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01515.hp1 HG02258.hp2 others(7): Show HG01168.hp1 HG01515.hp1 HG02258.hp2 HG02451.hp1 HG03453.hp1 NA18969.hp1 NA18970.hp2 NA18989.hp1 NA19064.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0005t0002	a0001c0001t0001g0209 a0001c0002t0002g0133 a0001c0002t0002g0134 others(7): Show a0001c0001t0001g0209 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0137 a0001c0002t0002g0155 a0001c0002t0002g0174 a0001c0004t0001g0005 a0001c0004t0002g0002 a0001c0005t0002g0188 a0001c0005t0002g0192	10	226	0.0443	-10	c.787 others(27): Show c.787-8217_787-8208delTATTTTATTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78202552	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00639.hp2 others(30): Show HG00099.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG01256.hp1 HG01346.hp2 HG02004.hp1 HG02055.hp1 HG02135.hp2 HG02258.hp1 HG02280.hp2 HG02523.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02922.hp1 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG04228.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18970.hp2 NA18979.hp2 NA18982.hp2 NA19030.hp2 NA19063.hp2 NA19068.hp1 NA19081.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0001c0006t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0083 others(30): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0167 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0004t0002g0185 a0001c0006t0001g0223	33	226	0.1460	-10	c.786 others(29): Show c.786+13493_786+13502delACACACACAC	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78278598	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0001 a0001c0004t0002g0001	1	226	0.0044	-10	c.129 others(29): Show c.129-11013_129-11004delTTTTTTTTTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	1/26			chr5	TogoVar
AP3B2_chr15_82654281_82714875	82665376	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01169.hp1 HG02074.hp2 others(4): Show HG00099.hp2 HG01169.hp1 HG02074.hp2 HG02723.hp1 HG03942.hp1 NA19060.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0001g0225 others(4): Show a0001c0001t0001g0191 a0001c0001t0001g0198 a0001c0001t0001g0225 a0001c0001t0001g0233 a0001c0001t0001g0251 a0001c0001t0001g0298 a0001c0001t0001g0357	7	368	0.0190	-10	c.197 others(25): Show c.1971+71_1972-74delGTGTGTGTGT	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	16/26			chr15	TogoVar
AP3D1_chr19_2095988_2156566	2135533	CTCAAAAC others(3): Show CTCAAAACAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0114 a0001c0003t0005g0114	1	406	0.0025	-10	c.354 others(27): Show c.354+1468_354+1477delTTTGTTTTGA	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	4/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2139059	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18522.hp2 NA18940.hp1 others(2): Show HG03239.hp2 NA18522.hp2 NA18940.hp1 NA18975.hp1 NA19060.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0006c0019	a0001c0001t0001 a0001c0003t0002 a0001c0005t0002 others(1): Show a0001c0001t0001 a0001c0003t0002 a0001c0005t0002 a0006c0019t0002	a0001c0001t0001g0102 a0001c0003t0002g0200 a0001c0003t0002g0344 others(2): Show a0001c0001t0001g0102 a0001c0003t0002g0200 a0001c0003t0002g0344 a0001c0005t0002g0044 a0006c0019t0002g0038	5	406	0.0123	-10	c.97- others(23): Show c.97-355_97-346delTTTTTTTTTT	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	1/31			chr19	TogoVar
AP3M1_chr10_74115255_74155828	74137239	CAAACAAA others(3): Show CAAACAAAACA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02717.hp1 others(7): Show HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG03195.hp2 HG03225.hp2 HG03540.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0006 a0001c0007t0022 a0001c0001t0006 a0001c0007t0022	a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0015 others(4): Show a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0015 a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0007t0022g0044	10	334	0.0299	-10	c.274 others(25): Show c.274-446_274-437delTGTTTTGTTT	AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding	2/8			chr10	TogoVar
AP3M1_chr10_74115255_74155828	74149267	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(88): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00558.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01943.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02129.hp2 HG02132.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp2 HG03239.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18961.hp2 NA18962.hp1 NA18969.hp2 NA18973.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp2 NA19002.hp1 NA19004.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19055.hp1 NA19056.hp1 NA19062.hp2 NA19063.hp1 NA19074.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19240.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0002t0002 a0001c0006t0002	a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0027 others(62): Show a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0045 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0175 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0003g0008 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0037 a0001c0001t0003g0224 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0005g0028 a0001c0001t0005g0030 a0001c0001t0005g0163 a0001c0001t0005g0168 a0001c0001t0005g0178 a0001c0001t0012g0159 a0001c0001t0018g0164 a0001c0001t0020g0165 a0001c0001t0021g0238 a0001c0002t0002g0004 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0179 a0001c0002t0002g0181 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0187 a0001c0006t0002g0190	91	334	0.2725	-10	c.-4+ others(25): Show c.-4+1478_-4+1487delAAAAAAAAAA	AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding	1/8			chr10	TogoVar
AP3S1_chr5_115836935_115919081	115845836	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG04115.hp1 NA18942.hp1 others(1): Show HG01358.hp1 HG04115.hp1 NA18942.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0327 a0001c0001t0001g0328 others(1): Show a0001c0001t0001g0196 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0352	4	378	0.0106	-10	c.69+ others(25): Show c.69+3759_69+3768delAAAAAAAAAA	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
AP3S2_chr15_89825599_89898994	89844259	CTTTCTTT others(3): Show CTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03516.hp1 HG02109.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0019 a0001c0001t0005 a0001c0003t0019	a0001c0001t0005g0074 a0001c0003t0019g0287 a0001c0001t0005g0074 a0001c0003t0019g0287	2	312	0.0064	-10	c.346 others(27): Show c.346-6547_346-6538delAAGAAAGAAA	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858483	GAAAGAAA others(3): Show GAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0075 a0001c0001t0005g0075	1	312	0.0032	-10	c.345 others(29): Show c.345+12982_345+12991delTTCTTTCTTT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858485	AAGAAAGA others(3): Show AAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0302 a0001c0001t0016g0302	1	312	0.0032	-10	c.345 others(29): Show c.345+12980_345+12989delCTTTCTTTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858489	AAGAAAGA others(3): Show AAGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0003 a0001c0001t0007g0003	1	312	0.0032	-10	c.345 others(29): Show c.345+12976_345+12985delCTCTCTTTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858493	AAGAGAGA others(3): Show AAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0295 a0001c0001t0012g0295	1	312	0.0032	-10	c.345 others(29): Show c.345+12972_345+12981delCTCTCTCTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858525	GAAAGAAA others(3): Show GAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02886.hp2 HG03225.hp2 others(1): Show HG02723.hp1 HG02886.hp2 HG03225.hp2 HG03453.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0005 a0001c0001t0016 a0001c0001t0045 others(1): Show a0001c0001t0005 a0001c0001t0016 a0001c0001t0045 a0003c0004t0016	a0001c0001t0005g0073 a0001c0001t0016g0302 a0001c0001t0045g0303 others(1): Show a0001c0001t0005g0073 a0001c0001t0016g0302 a0001c0001t0045g0303 a0003c0004t0016g0304	4	312	0.0128	-10	c.345 others(29): Show c.345+12940_345+12949delTTCTTTCTTT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP4B1_chr1_113889194_113909799	113908508	TGAGACAG others(3): Show TGAGACAGGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0030 a0002c0009t0002g0030	1	434	0.0023	-10	c.-38 others(21): Show c.-3801_-3792delCTCCTGTCTC	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding		3710		chr1	TogoVar
AP4B1_chr1_113889194_113909799	113908602	CCCTGTCT others(3): Show CCCTGTCTCAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0030 a0002c0009t0002g0030	1	434	0.0023	-10	c.-38 others(21): Show c.-3895_-3886delTTGAGACAGG	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding		3804		chr1	TogoVar
AP4E1_chr15_50903683_51010895	50962889	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0186 a0002c0003t0006g0186	1	392	0.0026	-10	c.185 others(29): Show c.1851+4113_1851+4122delAAAAAAAAAA	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	51008018	TTTTTTTT others(3): Show TTTTTTTTTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00609.hp1 others(59): Show HG00099.hp2 HG00408.hp2 HG00609.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01261.hp1 HG01515.hp2 HG01517.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02280.hp1 HG02486.hp2 HG02895.hp2 HG02897.hp2 HG03098.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03704.hp2 HG03834.hp2 HG04115.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18943.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18975.hp1 NA18978.hp2 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19058.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp2 NA19079.hp1 NA19088.hp1 NA20752.hp2	a0002 a0011 a0002 a0011	a0002c0002 a0002c0003 a0011c0009 a0002c0002 a0002c0003 a0011c0009	a0002c0002t0002 a0002c0003t0003 a0002c0003t0013 others(1): Show a0002c0002t0002 a0002c0003t0003 a0002c0003t0013 a0011c0009t0003	a0002c0002t0002g0046 a0002c0002t0002g0099 a0002c0002t0002g0105 others(58): Show a0002c0002t0002g0046 a0002c0002t0002g0099 a0002c0002t0002g0105 a0002c0003t0003g0126 a0002c0003t0003g0127 a0002c0003t0003g0128 a0002c0003t0003g0129 a0002c0003t0003g0130 a0002c0003t0003g0131 a0002c0003t0003g0132 a0002c0003t0003g0133 a0002c0003t0003g0134 a0002c0003t0003g0135 a0002c0003t0003g0136 a0002c0003t0003g0137 a0002c0003t0003g0138 a0002c0003t0003g0139 a0002c0003t0003g0140 a0002c0003t0003g0141 a0002c0003t0003g0142 a0002c0003t0003g0143 a0002c0003t0003g0145 a0002c0003t0003g0146 a0002c0003t0003g0147 a0002c0003t0003g0148 a0002c0003t0003g0149 a0002c0003t0003g0150 a0002c0003t0003g0151 a0002c0003t0003g0152 a0002c0003t0003g0153 a0002c0003t0003g0154 a0002c0003t0003g0155 a0002c0003t0003g0156 a0002c0003t0003g0158 a0002c0003t0003g0159 a0002c0003t0003g0160 a0002c0003t0003g0162 a0002c0003t0003g0163 a0002c0003t0003g0164 a0002c0003t0003g0165 a0002c0003t0003g0166 a0002c0003t0003g0167 a0002c0003t0003g0168 a0002c0003t0003g0169 a0002c0003t0003g0170 a0002c0003t0003g0171 a0002c0003t0003g0172 a0002c0003t0003g0174 a0002c0003t0003g0175 a0002c0003t0003g0176 a0002c0003t0003g0177 a0002c0003t0003g0178 a0002c0003t0003g0179 a0002c0003t0003g0180 a0002c0003t0003g0181 a0002c0003t0003g0182 a0002c0003t0003g0183 a0002c0003t0003g0193 a0002c0003t0003g0194 a0002c0003t0013g0001 a0011c0009t0003g0161	62	392	0.1582	-10	c.53 others(21): Show c.5357_*5366delTTTTTTTTTG	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding		2124		chr15	TogoVar
AP4S1_chr14_31020649_31101450	31049428	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02886.hp2 HG03704.hp2 others(2): Show HG01099.hp2 HG02886.hp2 HG03704.hp2 HG03927.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0020 a0001c0001t0003 a0001c0001t0007 a0001c0001t0020	a0001c0001t0003g0147 a0001c0001t0007g0208 a0001c0001t0007g0266 others(2): Show a0001c0001t0003g0147 a0001c0001t0007g0208 a0001c0001t0007g0266 a0001c0001t0007g0269 a0001c0001t0020g0202	5	346	0.0145	-10	c.-71 others(29): Show c.-71-16673_-71-16664delATATATATAT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31058517	CTGTGTGT others(3): Show CTGTGTGTGTA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03579.hp2 HG01106.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0157 a0001c0001t0007g0161 a0001c0001t0007g0157 a0001c0001t0007g0161	2	346	0.0058	-10	c.-71 others(27): Show c.-71-7599_-71-7590delATGTGTGTGT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31058752	TTTTAGTA others(3): Show TTTTAGTAGAC	T T	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	346	0.0029	-10	c.-71 others(27): Show c.-71-7373_-71-7364delTTTAGTAGAC	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5			chr14	TogoVar
AP4S1_chr14_31020649_31101450	31065472	TCAGAAGA others(3): Show TCAGAAGATCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(67): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00609.hp2 HG00621.hp1 HG00733.hp2 HG00741.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01433.hp2 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03579.hp2 HG03669.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp2 NA18747.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18950.hp2 NA18951.hp2 NA18957.hp2 NA18968.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA19002.hp1 NA19003.hp2 NA19009.hp2 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19068.hp2 NA19080.hp2 NA19088.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0047 a0001c0001t0049	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 others(66): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0144 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0285 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0003g0002 a0001c0001t0003g0130 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0156 a0001c0001t0003g0245 a0001c0001t0004g0209 a0001c0001t0004g0216 a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0006g0017 a0001c0001t0006g0018 a0001c0001t0006g0019 a0001c0001t0006g0020 a0001c0001t0006g0021 a0001c0001t0006g0327 a0001c0001t0006g0328 a0001c0001t0007g0157 a0001c0001t0007g0161 a0001c0001t0008g0013 a0001c0001t0014g0158 a0001c0001t0014g0159 a0001c0001t0014g0160 a0001c0001t0015g0143 a0001c0001t0015g0211 a0001c0001t0041g0227 a0001c0001t0042g0014 a0001c0001t0044g0131 a0001c0001t0047g0264 a0001c0001t0049g0229	70	346	0.2023	-10	c.-71 others(25): Show c.-71-653_-71-644delCAGAAGATCA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5			chr14	TogoVar
AP4S1_chr14_31020649_31101450	31077629	CTTCCAGG others(3): Show CTTCCAGGTGA	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0010 a0001c0001t0034g0010	1	346	0.0029	-10	c.295 others(27): Show c.295-2930_295-2921delCAGGTGATTC	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31088807	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	346	0.0029	-10	c.307 others(27): Show c.307-4086_307-4077delAAAAAAAAAA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP5M1_chr14_57263971_57303742	57286996	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0048 a0001c0002t0025g0048	1	280	0.0036	-10	c.139 others(27): Show c.1390+698_1390+707delACACACACAC	AP5M1	ENSG00000053770.12	transcript	ENST00000261558.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP5M1_chr14_57263971_57303742	57300718	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG01952.hp1 others(1): Show HG00423.hp1 HG00423.hp2 HG01952.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0046 a0001c0001t0001 a0001c0001t0005 a0001c0001t0046	a0001c0001t0001g0031 a0001c0001t0001g0057 a0001c0001t0005g0063 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0057 a0001c0001t0005g0063 a0001c0001t0046g0001	4	280	0.0143	-10	c.11 others(23): Show c.11835_*11844delTTTTTTTTTT	AP5M1	ENSG00000053770.12	transcript	ENST00000261558.8	protein_coding		1977		chr14	TogoVar
AP5S1_chr20_3815547_3833838	3816812	CATGTCCC others(3): Show CATGTCCCCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	-10	c.-39 others(21): Show c.-3962_-3953delATGTCCCCGG	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		3734		chr20	TogoVar
AP5S1_chr20_3815547_3833838	3818084	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 NA20129.hp1 HG02970.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0012 a0001c0001t0013g0012	2	412	0.0049	-10	c.-26 others(21): Show c.-2690_-2681delAAAAAAAAAA	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2462		chr20	TogoVar
AP5Z1_chr7_4770623_4799397	4770864	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02080.hp2 NA19012.hp2 HG02027.hp2 HG02080.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0018 a0001c0001t0001g0098 a0001c0001t0001g0102	3	340	0.0088	-10	c.-48 others(21): Show c.-4851_-4842delGTGTGTGTGT	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding		4758		chr7	TogoVar
APAF1_chr12_98640290_98740433	98640441	TCAAAACA others(3): Show TCAAAACAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00621.hp2 others(29): Show HG00408.hp1 HG00438.hp1 HG00621.hp2 HG02015.hp2 HG02056.hp1 HG02080.hp2 HG02135.hp2 HG02451.hp1 HG03239.hp2 HG04199.hp2 NA18522.hp1 NA18747.hp2 NA18942.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18954.hp2 NA18959.hp1 NA18963.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp1 NA18978.hp2 NA18991.hp1 NA19000.hp2 NA19057.hp2 NA19063.hp2 NA19081.hp1 NA19082.hp2 NA19086.hp2 NA19090.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0021 a0001c0001t0002 a0001c0001t0015 a0001c0001t0021	a0001c0001t0002g0209 a0001c0001t0002g0314 a0001c0001t0002g0324 others(29): Show a0001c0001t0002g0209 a0001c0001t0002g0314 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0015g0127 a0001c0001t0015g0128 a0001c0001t0015g0129 a0001c0001t0021g0350	32	366	0.0874	-10	c.-54 others(21): Show c.-5435_-5426delCAAAACAAAA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding		4848		chr12	TogoVar
APAF1_chr12_98640290_98740433	98653656	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 NA20129.hp1 HG01169.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0179 a0001c0001t0012g0218 a0001c0001t0004g0179 a0001c0001t0012g0218	2	366	0.0055	-10	c.526 others(27): Show c.526+3999_526+4008delAAAAAAAAAA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653685	AAAAAAAA others(3): Show AAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0303 a0001c0001t0013g0303	1	366	0.0027	-10	c.526 others(27): Show c.526+4003_526+4012delAAAAAATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653691	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	366	0.0027	-10	c.526 others(27): Show c.526+4031_526+4040delTATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98689435	TGAGAGAG others(3): Show TGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0148	1	366	0.0027	-10	c.230 others(29): Show c.2304+2582_2304+2591delAGAGAGAGAG	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	16/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98715235	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01884.hp2 HG02647.hp2 others(5): Show HG01361.hp2 HG01884.hp2 HG02647.hp2 HG02717.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG04228.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0008c0009t0012	a0001c0001t0001g0235 a0001c0001t0001g0269 a0001c0001t0012g0212 others(5): Show a0001c0001t0001g0235 a0001c0001t0001g0269 a0001c0001t0012g0212 a0001c0001t0013g0302 a0001c0001t0014g0122 a0001c0001t0014g0123 a0001c0001t0014g0293 a0008c0009t0012g0211	8	366	0.0219	-10	c.295 others(27): Show c.2959-155_2959-146delATATATATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	21/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APBA1_chr9_69422532_69677371	69477413	CGGCTTAA others(3): Show CGGCTTAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03516.hp1 HG03579.hp2 HG03098.hp2 HG03516.hp1 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0030 a0002c0002t0017 a0002c0002t0030	a0002c0002t0017g0205 a0002c0002t0017g0206 a0002c0002t0030g0067 a0002c0002t0017g0205 a0002c0002t0017g0206 a0002c0002t0030g0067	3	210	0.0143	-10	c.120 others(29): Show c.1201-1280_1201-1271delTTTTTAAGCC	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	2/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69477414	GGCTTAAA others(3): Show GGCTTAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00597.hp2 others(146): Show HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18946.hp1 NA18953.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp1 NA18966.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18998.hp2 NA18999.hp1 NA19004.hp1 NA19009.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0001c0006 others(2): Show a0001c0001 a0001c0005 a0001c0006 a0002c0002 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(32): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0005t0006 a0001c0006t0029 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 a0002c0002t0016 a0002c0002t0018 a0002c0002t0019 a0002c0002t0023 a0002c0002t0027 a0003c0007t0001	a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0022 others(146): Show a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0077 a0001c0001t0001g0086 a0001c0001t0001g0099 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0203 a0001c0001t0003g0093 a0001c0001t0004g0019 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0045 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0062 a0001c0001t0004g0092 a0001c0001t0004g0095 a0001c0001t0004g0164 a0001c0001t0005g0056 a0001c0001t0005g0104 a0001c0001t0005g0143 a0001c0001t0005g0150 a0001c0001t0005g0154 a0001c0001t0005g0161 a0001c0001t0005g0174 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0006g0088 a0001c0001t0006g0094 a0001c0001t0006g0146 a0001c0001t0006g0149 a0001c0001t0006g0160 a0001c0001t0006g0169 a0001c0001t0006g0204 a0001c0001t0007g0042 a0001c0001t0007g0047 a0001c0001t0007g0051 a0001c0001t0007g0108 a0001c0001t0008g0069 a0001c0001t0008g0070 a0001c0001t0008g0071 a0001c0001t0008g0072 a0001c0001t0008g0073 a0001c0001t0011g0142 a0001c0001t0011g0178 a0001c0001t0012g0025 a0001c0001t0012g0127 a0001c0001t0014g0111 a0001c0001t0014g0189 a0001c0001t0015g0020 a0001c0001t0015g0054 a0001c0001t0020g0068 a0001c0001t0021g0156 a0001c0001t0022g0182 a0001c0001t0024g0029 a0001c0001t0025g0162 a0001c0001t0028g0117 a0001c0001t0032g0061 a0001c0001t0033g0017 a0001c0001t0034g0207 a0001c0001t0036g0208 a0001c0001t0037g0210 a0001c0005t0006g0123 a0001c0006t0029g0083 a0002c0002t0001g0012 a0002c0002t0001g0101 a0002c0002t0002g0137 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0015 a0002c0002t0003g0024 a0002c0002t0003g0082 a0002c0002t0003g0084 a0002c0002t0003g0102 a0002c0002t0003g0115 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0132 a0002c0002t0003g0136 a0002c0002t0003g0138 a0002c0002t0003g0141 a0002c0002t0003g0158 a0002c0002t0003g0171 a0002c0002t0003g0172 a0002c0002t0003g0183 a0002c0002t0003g0184 a0002c0002t0003g0190 a0002c0002t0003g0193 a0002c0002t0003g0194 a0002c0002t0003g0195 a0002c0002t0003g0197 a0002c0002t0003g0198 a0002c0002t0007g0008 a0002c0002t0007g0035 a0002c0002t0007g0048 a0002c0002t0007g0049 a0002c0002t0009g0001 a0002c0002t0009g0003 a0002c0002t0009g0004 a0002c0002t0009g0005 a0002c0002t0016g0145 a0002c0002t0016g0181 a0002c0002t0018g0002 a0002c0002t0019g0033 a0002c0002t0023g0011 a0002c0002t0027g0112 a0003c0007t0001g0113	149	210	0.7095	-10	c.120 others(29): Show c.1201-1281_1201-1272delTTTTTTAAGC	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	2/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69501629	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG01071.hp1 others(36): Show HG00423.hp1 HG00597.hp1 HG01071.hp1 HG01255.hp1 HG01346.hp1 HG01361.hp2 HG02004.hp1 HG02132.hp2 HG02155.hp2 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp2 HG04184.hp1 HG04184.hp2 NA18612.hp2 NA18939.hp1 NA18946.hp1 NA18953.hp1 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18998.hp2 NA19074.hp1 NA19074.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0007 a0001c0001 a0002c0002 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0002c0002t0001 a0002c0002t0003 a0002c0002t0016 a0002c0002t0027 a0002c0002t0030 a0003c0007t0001	a0001c0001t0001g0114 a0001c0001t0001g0152 a0001c0001t0001g0166 others(36): Show a0001c0001t0001g0114 a0001c0001t0001g0152 a0001c0001t0001g0166 a0001c0001t0003g0093 a0001c0001t0004g0019 a0001c0001t0004g0026 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0045 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0062 a0001c0001t0004g0092 a0001c0001t0004g0095 a0001c0001t0004g0164 a0001c0001t0005g0104 a0001c0001t0006g0094 a0001c0001t0007g0042 a0001c0001t0012g0127 a0002c0002t0001g0012 a0002c0002t0001g0101 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0128 a0002c0002t0003g0132 a0002c0002t0003g0136 a0002c0002t0003g0172 a0002c0002t0003g0184 a0002c0002t0003g0190 a0002c0002t0003g0193 a0002c0002t0003g0194 a0002c0002t0003g0195 a0002c0002t0003g0197 a0002c0002t0003g0198 a0002c0002t0016g0145 a0002c0002t0016g0181 a0002c0002t0027g0112 a0002c0002t0030g0067 a0003c0007t0001g0113	39	210	0.1857	-10	c.120 others(31): Show c.1200+14372_1200+14381delGTGTGTGTGT	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	2/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69515695	GGGGGGGG others(3): Show GGGGGGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0137 a0002c0002t0002g0137	1	210	0.0048	-10	c.120 others(27): Show c.1200+306_1200+315delGCCCCCCCCC	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	2/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69523487	ATATATAT others(3): Show ATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp2 HG03017.hp1 others(1): Show HG02717.hp2 HG02723.hp2 HG03017.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 others(1): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 a0002c0002t0007	a0001c0001t0006g0169 a0001c0001t0012g0127 a0001c0001t0015g0020 others(1): Show a0001c0001t0006g0169 a0001c0001t0012g0127 a0001c0001t0015g0020 a0002c0002t0007g0008	4	210	0.0191	-10	c.-69 others(27): Show c.-69-6218_-69-6209delCATATATATA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69530321	TATATATA others(3): Show TATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	210	0.0048	-10	c.-69 others(29): Show c.-69-13052_-69-13043delGTATATATAT	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69569448	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00642.hp1 HG01071.hp1 others(14): Show HG00423.hp2 HG00642.hp1 HG01071.hp1 HG01099.hp2 HG01515.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02300.hp1 HG02683.hp2 HG02970.hp1 HG03098.hp1 HG04199.hp2 HG04204.hp2 NA18953.hp2 NA18998.hp1 NA19074.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0002c0002 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0021 a0001c0001t0028 a0001c0001t0032 a0001c0004t0002 a0001c0005t0006 a0002c0002t0003 a0004c0003t0002	a0001c0001t0001g0191 a0001c0001t0002g0170 a0001c0001t0002g0202 others(14): Show a0001c0001t0001g0191 a0001c0001t0002g0170 a0001c0001t0002g0202 a0001c0001t0004g0164 a0001c0001t0006g0088 a0001c0001t0006g0134 a0001c0001t0006g0146 a0001c0001t0006g0149 a0001c0001t0006g0160 a0001c0001t0021g0156 a0001c0001t0028g0117 a0001c0001t0032g0061 a0001c0004t0002g0126 a0001c0005t0006g0123 a0002c0002t0003g0190 a0002c0002t0003g0193 a0004c0003t0002g0177	17	210	0.0810	-10	c.-69 others(29): Show c.-69-52179_-69-52170delACACACACAC	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69606479	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02976.hp1 HG03195.hp1 others(2): Show HG02809.hp1 HG02976.hp1 HG03195.hp1 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0069 a0001c0001t0008g0070 a0001c0001t0008g0071 others(2): Show a0001c0001t0008g0069 a0001c0001t0008g0070 a0001c0001t0008g0071 a0001c0001t0008g0072 a0001c0001t0008g0073	5	210	0.0238	-10	c.-70 others(29): Show c.-70+65664_-70+65673delAAAAAAAAAA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69633114	CTTTTATT others(3): Show CTTTTATTTTA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01074.hp2 others(28): Show HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01175.hp2 HG01358.hp1 HG01433.hp2 HG02109.hp1 HG02145.hp2 HG02486.hp1 HG02683.hp1 HG02809.hp1 HG02976.hp1 HG03195.hp1 HG03491.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG04199.hp1 HG04228.hp1 NA18906.hp2 NA18944.hp2 NA18946.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA18979.hp1 NA19004.hp2 NA19009.hp2 NA20129.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0022 a0001c0001t0035 a0001c0006t0029	a0001c0001t0001g0009 a0001c0001t0001g0131 a0001c0001t0001g0186 others(28): Show a0001c0001t0001g0009 a0001c0001t0001g0131 a0001c0001t0001g0186 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0085 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0185 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0008g0069 a0001c0001t0008g0070 a0001c0001t0008g0071 a0001c0001t0008g0072 a0001c0001t0008g0073 a0001c0001t0022g0182 a0001c0001t0035g0209 a0001c0006t0029g0083	31	210	0.1476	-10	c.-70 others(29): Show c.-70+39029_-70+39038delTAAAATAAAA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69636822	AGAGAGAG others(3): Show AGAGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19030.hp1 HG03130.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0089 a0001c0001t0002g0091	2	210	0.0095	-10	c.-70 others(29): Show c.-70+35321_-70+35330delCCTCTCTCTC	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)