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
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0172 a0001c0002t0002g0172	1	226	0.0044	18	c.787 others(37): Show c.787-12109_787-12108insAAAAAAAAAATATATATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B2_chr15_82654281_82714875	82700397	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01074.hp2 HG01361.hp2 others(39): Show HG01071.hp2 HG01074.hp2 HG01361.hp2 HG01952.hp2 HG02109.hp1 HG02523.hp2 HG02622.hp1 HG02683.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03453.hp2 HG03490.hp2 HG03492.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp2 HG06807.hp1 NA18522.hp2 NA18946.hp1 NA18948.hp1 NA18952.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18975.hp1 NA18980.hp1 NA18983.hp1 NA18986.hp1 NA18989.hp2 NA18999.hp2 NA19001.hp2 NA19004.hp1 NA19043.hp2 NA19056.hp1 NA19074.hp1 NA19091.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 others(2): Show a0001c0001 a0001c0005 a0001c0006 a0001c0009 a0001c0017	a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 others(2): Show a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 a0001c0009t0001 a0001c0017t0001	a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0140 others(39): Show a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0005t0001g0301 a0001c0006t0001g0091 a0001c0006t0001g0092 a0001c0006t0001g0093 a0001c0009t0001g0324 a0001c0017t0001g0281	42	368	0.1141	18	c.113 others(35): Show c.113+9179_113+9196dupAAAAAAAAAAAAAAAAAA	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	1/26			chr15	TogoVar
AP3S1_chr5_115836935_115919081	115868982	G G	GGAGGGAG others(11): Show GGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03225.hp1 HG03490.hp2 others(2): Show HG02145.hp1 HG03225.hp1 HG03490.hp2 HG03492.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0003g0021 others(2): Show a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0003g0021 a0001c0001t0003g0092 a0001c0001t0003g0157	5	378	0.0132	18	c.162 others(35): Show c.162-1032_162-1031insGGAGGGAGGGAGGGAGAG	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
AP3S2_chr15_89825599_89898994	89858523	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0010 a0001c0001t0014g0010	1	312	0.0032	18	c.345 others(37): Show c.345+12951_345+12952insTTCTTTCTTTCTTTCTTT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858523	G G	GAGAGAAA others(11): Show GAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18990.hp2 HG00597.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0071 a0001c0001t0003g0140 a0001c0001t0001g0071 a0001c0001t0003g0140	2	312	0.0064	18	c.345 others(37): Show c.345+12951_345+12952insTTCTTTCTTTCTTTCTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858523	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0014 a0001c0001t0001g0034	2	312	0.0064	18	c.345 others(37): Show c.345+12951_345+12952insTTCTTTCTCTCTCTCTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP4E1_chr15_50903683_51010895	50908741	G G	GATCGCGG others(11): Show GATCGCGGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0020	a0002c0003t0020g0008 a0002c0003t0020g0008	1	392	0.0026	18	c.-19 others(24): Show c.-19_-2dupATCGCGGGCGGCGGCGGC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	1/21	1	INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50962889	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03486.hp1 NA19043.hp2 HG01884.hp2 HG03486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0362 a0001c0001t0005g0335 a0001c0001t0005g0336 a0001c0001t0004g0362 a0001c0001t0005g0335 a0001c0001t0005g0336	3	392	0.0077	18	c.185 others(37): Show c.1851+4105_1851+4122dupAAAAAAAAAAAAAAAAAA	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50964955	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00735.hp2 others(13): Show HG00423.hp1 HG00544.hp2 HG00735.hp2 HG01192.hp2 HG02970.hp2 HG03516.hp2 NA18747.hp1 NA18942.hp2 NA18946.hp2 NA18969.hp2 NA18990.hp1 NA18998.hp2 NA19001.hp1 NA19004.hp2 NA19054.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0002c0002t0002 a0002c0003t0006 a0001c0001t0001 a0002c0002t0002 a0002c0003t0006	a0001c0001t0001g0286 a0002c0002t0002g0013 a0002c0002t0002g0040 others(13): Show a0001c0001t0001g0286 a0002c0002t0002g0013 a0002c0002t0002g0040 a0002c0002t0002g0051 a0002c0002t0002g0062 a0002c0002t0002g0065 a0002c0002t0002g0067 a0002c0002t0002g0070 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0103 a0002c0002t0002g0122 a0002c0003t0006g0190 a0002c0003t0006g0192	16	392	0.0408	18	c.185 others(37): Show c.1852-3288_1852-3271dupACACACACACACACACAC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50990344	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02615.hp2 NA19001.hp1 others(1): Show HG02080.hp1 HG02615.hp2 NA19001.hp1 NA19090.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0003 a0003c0004 a0002c0002 a0002c0003 a0003c0004	a0002c0002t0002 a0002c0003t0002 a0003c0004t0007 a0002c0002t0002 a0002c0003t0002 a0003c0004t0007	a0002c0002t0002g0049 a0002c0002t0002g0087 a0002c0003t0002g0123 others(1): Show a0002c0002t0002g0049 a0002c0002t0002g0087 a0002c0003t0002g0123 a0003c0004t0007g0024	4	392	0.0102	18	c.209 others(37): Show c.2091-3011_2091-2994dupATTATTATTATTATTATT	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	51006558	A A	ATTGCATG others(11): Show ATTGCATGATAGTTACTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0066 a0002c0002t0002g0066	1	392	0.0026	18	c.38 others(29): Show c.3896_*3897insTTGCATGATAGTTACTGG	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding		664		chr15	TogoVar
AP4M1_chr7_100096643_100114039	100099418	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	416	0.0024	18	c.-22 others(29): Show c.-2297_-2296insAAAAAAAAAAAAAAAAAA	AP4M1	ENSG00000221838.11	transcript	ENST00000359593.9	protein_coding		2224		chr7	TogoVar
AP4S1_chr14_31020649_31101450	31049428	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	346	0.0058	18	c.-71 others(37): Show c.-71-16697_-71-16696insAAAAAAAATATATATATA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31049428	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0245 a0001c0001t0003g0245	1	346	0.0029	18	c.-71 others(37): Show c.-71-16697_-71-16696insAAAAAATATATATATATA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31049474	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00673.hp2 others(14): Show HG00140.hp2 HG00423.hp2 HG00673.hp2 HG02015.hp1 HG02080.hp1 HG02165.hp1 HG02698.hp2 HG03017.hp2 NA18939.hp1 NA18969.hp1 NA18988.hp1 NA18995.hp2 NA19007.hp1 NA19065.hp1 NA19081.hp1 NA19082.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0288 a0001c0001t0001g0291 others(14): Show a0001c0001t0001g0251 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0321 a0001c0001t0001g0325 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0341	17	346	0.0491	18	c.-71 others(37): Show c.-71-16634_-71-16617dupCACACACACACACACACA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31083496	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01981.hp1 HG00639.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0142 a0001c0001t0005g0242 a0001c0001t0001g0142 a0001c0001t0005g0242	2	346	0.0058	18	c.306 others(35): Show c.306+2921_306+2938dupTTTTTTTTTTTTTTTTTT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP5B1_chr11_65768898_65785976	65774517	T T	TTCTCCTG others(11): Show TTCTCCTGCCTCAGCCTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	18	c.33 others(29): Show c.3321_*3338dupGGAGGCTGAGGCAGGAGA	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	3338		chr11	TogoVar
APAF1_chr12_98640290_98740433	98643817	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG01884.hp2 others(2): Show HG01081.hp1 HG01109.hp1 HG01884.hp2 HG02486.hp2 NA19240.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0007 a0001c0001 a0009c0007	a0001c0001t0013 a0001c0001t0036 a0009c0007t0029 a0001c0001t0013 a0001c0001t0036 a0009c0007t0029	a0001c0001t0013g0301 a0001c0001t0013g0302 a0001c0001t0013g0303 others(2): Show a0001c0001t0013g0301 a0001c0001t0013g0302 a0001c0001t0013g0303 a0001c0001t0036g0300 a0009c0007t0029g0304	5	366	0.0137	18	c.-20 others(29): Show c.-2060_-2059insTTTTTTTTTTTTTTTCCT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding		1472		chr12	TogoVar
APAF1_chr12_98640290_98740433	98653689	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA18962.hp1 NA19078.hp2 HG01074.hp1 NA18962.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0021 a0001c0001t0005g0075 a0001c0001t0005g0076 a0001c0001t0001g0021 a0001c0001t0005g0075 a0001c0001t0005g0076	3	366	0.0082	18	c.526 others(35): Show c.526+4006_526+4007insTATATATATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653691	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03831.hp2 NA18980.hp1 others(1): Show HG00735.hp2 HG03831.hp2 NA18980.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0049 a0001c0001t0001g0100 a0001c0001t0001g0114 others(1): Show a0001c0001t0001g0049 a0001c0001t0001g0100 a0001c0001t0001g0114 a0001c0001t0005g0048	4	366	0.0109	18	c.526 others(35): Show c.526+4023_526+4040dupTATATATATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98665255	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0159	1	366	0.0027	18	c.956 others(33): Show c.956-291_956-274dupATATATATATATATATAT	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(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01257.hp1 HG01952.hp1 others(26): Show HG00408.hp1 HG01257.hp1 HG01952.hp1 HG02015.hp2 HG02056.hp1 HG02080.hp2 HG02135.hp2 HG02293.hp1 HG02698.hp1 NA18942.hp1 NA18946.hp1 NA18950.hp1 NA18954.hp2 NA18959.hp1 NA18963.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp1 NA18979.hp1 NA18989.hp1 NA18993.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp2 NA19056.hp1 NA19057.hp2 NA19063.hp2 NA19078.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0002 a0001c0001t0006 a0001c0013t0006 a0001c0001t0002 a0001c0001t0006 a0001c0013t0006	a0001c0001t0002g0209 a0001c0001t0002g0324 a0001c0001t0002g0326 others(26): Show a0001c0001t0002g0209 a0001c0001t0002g0324 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0341 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0006g0124 a0001c0001t0006g0138 a0001c0001t0006g0150 a0001c0001t0006g0157 a0001c0001t0006g0160 a0001c0001t0006g0164 a0001c0001t0006g0169 a0001c0001t0006g0171 a0001c0001t0006g0174 a0001c0001t0006g0222 a0001c0001t0006g0223 a0001c0013t0006g0153	29	366	0.0792	18	c.272 others(35): Show c.2722-890_2722-873dupTATATATATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98707711	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0165 a0001c0001t0006g0165	1	366	0.0027	18	c.272 others(35): Show c.2722-873_2722-872insTATATATATATATATACA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98715235	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	366	0.0027	18	c.295 others(35): Show c.2959-163_2959-146dupATATATATATATATATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	21/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98715281	T T	TATATATA others(11): Show TATATATATATATATATGA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0339 a0001c0001t0002g0339	1	366	0.0027	18	c.295 others(35): Show c.2959-146_2959-145insATATATATATATATATGA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	21/26			chr12	TogoVar
APBA1_chr9_69422532_69677371	69540122	G G	GCAACAAC others(11): Show GCAACAACAACAACAACAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02056.hp1 HG03710.hp1 HG01496.hp2 HG02056.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0116 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0116	3	210	0.0143	18	c.-69 others(37): Show c.-69-22861_-69-22844dupTTGTTGTTGTTGTTGTTG	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69658260	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02004.hp2 HG02155.hp2 others(3): Show HG00642.hp2 HG02004.hp2 HG02155.hp2 HG02698.hp1 NA18998.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 a0002c0002t0003	a0001c0001t0001g0133 a0001c0001t0001g0151 a0001c0001t0001g0152 others(3): Show a0001c0001t0001g0133 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0005g0150 a0001c0001t0014g0111 a0002c0002t0003g0184	6	210	0.0286	18	c.-70 others(37): Show c.-70+13875_-70+13892dupAAGAAAGAAAGAAAGAAA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69658264	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	210	0.0048	18	c.-70 others(37): Show c.-70+13871_-70+13888dupAAGAAAGAAAGAAAGAAA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69658272	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02135.hp1 HG02135.hp2 HG00423.hp1 HG02135.hp1 HG02135.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0002 a0002c0002t0003 a0001c0001t0001 a0001c0004t0002 a0002c0002t0003	a0001c0001t0001g0135 a0001c0004t0002g0126 a0002c0002t0003g0195 a0001c0001t0001g0135 a0001c0004t0002g0126 a0002c0002t0003g0195	3	210	0.0143	18	c.-70 others(37): Show c.-70+13880_-70+13881insAAGAAAGAAAGAAAGAAA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69658304	C C	CTCTCTTT others(11): Show CTCTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG04228.hp1 HG02055.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0075 a0001c0001t0002g0052 a0001c0001t0002g0075	2	210	0.0095	18	c.-70 others(37): Show c.-70+13848_-70+13849insAAGAAAGAAAGAAAGAGA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69658304	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0059	1	210	0.0048	18	c.-70 others(37): Show c.-70+13848_-70+13849insAAGAAAGAAAGAAAGAAA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA2_chr15_28880974_29123315	28901908	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp2 HG01169.hp1 others(31): Show HG00323.hp2 HG01081.hp2 HG01169.hp1 HG01255.hp2 HG01358.hp1 HG01884.hp2 HG01891.hp1 HG01981.hp1 HG02083.hp2 HG02280.hp1 HG02293.hp1 HG02602.hp1 HG02647.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03491.hp2 HG03579.hp1 HG03831.hp1 HG06807.hp1 NA18940.hp1 NA18950.hp1 NA18954.hp1 NA18956.hp2 NA18962.hp2 NA18981.hp1 NA19002.hp1 NA19043.hp2 NA19088.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0011 others(4): Show a0001c0001 a0001c0007 a0001c0011 a0002c0002 a0002c0003 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0031 a0001c0001t0042 a0001c0007t0004 a0001c0011t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0002t0010 a0002c0003t0018 a0002c0004t0022 a0002c0005t0004	a0001c0001t0001g0057 a0001c0001t0001g0085 a0001c0001t0002g0134 others(31): Show a0001c0001t0001g0057 a0001c0001t0001g0085 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0002g0190 a0001c0001t0003g0150 a0001c0001t0003g0159 a0001c0001t0003g0164 a0001c0001t0003g0166 a0001c0001t0005g0009 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0006g0160 a0001c0001t0031g0055 a0001c0001t0042g0097 a0001c0007t0004g0043 a0001c0007t0004g0044 a0001c0011t0004g0056 a0002c0002t0001g0020 a0002c0002t0002g0180 a0002c0002t0003g0094 a0002c0002t0003g0182 a0002c0002t0004g0089 a0002c0002t0006g0130 a0002c0002t0006g0178 a0002c0002t0008g0125 a0002c0002t0010g0072 a0002c0002t0010g0073 a0002c0002t0010g0074 a0002c0003t0018g0145 a0002c0004t0022g0080 a0002c0005t0004g0022	34	204	0.1667	18	c.-20 others(39): Show c.-205+15646_-205+15663dupGTGTGTGTGTGTGTGTGT	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	28908315	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02895.hp1 HG02258.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0008 a0002c0002t0006 a0002c0002t0008	a0002c0002t0006g0178 a0002c0002t0008g0192 a0002c0002t0006g0178 a0002c0002t0008g0192	2	204	0.0098	18	c.-20 others(39): Show c.-204-13312_-204-13311insTTTTTTTTTTTTTTTTTT	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	28987725	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01496.hp2 HG02165.hp1 others(8): Show HG00621.hp1 HG01496.hp2 HG02165.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03209.hp1 HG03669.hp2 HG03688.hp1 NA18956.hp1 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0002c0002t0006 a0002c0002t0008 a0002c0006t0016	a0001c0001t0002g0144 a0001c0001t0002g0197 a0001c0001t0004g0017 others(8): Show a0001c0001t0002g0144 a0001c0001t0002g0197 a0001c0001t0004g0017 a0001c0001t0004g0037 a0001c0001t0004g0065 a0001c0001t0005g0077 a0002c0002t0006g0118 a0002c0002t0008g0201 a0002c0002t0008g0202 a0002c0006t0016g0099 a0002c0006t0016g0100	11	204	0.0539	18	c.-94 others(35): Show c.-94-8027_-94-8026insTATATATATATATATATA	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	29045073	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG01255.hp2 others(14): Show HG00408.hp1 HG00621.hp1 HG01255.hp2 HG01496.hp2 HG01934.hp1 HG02083.hp1 HG02647.hp1 HG02976.hp2 HG03831.hp2 HG04204.hp2 NA18940.hp2 NA18950.hp1 NA18964.hp2 NA18970.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0021 a0002c0002t0043	a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0001t0001g0057 others(14): Show a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0002g0112 a0001c0001t0002g0149 a0001c0001t0002g0153 a0001c0001t0002g0158 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0004g0037 a0002c0002t0003g0167 a0002c0002t0007g0137 a0002c0002t0008g0201 a0002c0002t0008g0202 a0002c0002t0021g0040 a0002c0002t0043g0200	17	204	0.0833	18	c.-40 others(35): Show c.-40-8755_-40-8754insTTCTCTCTCTCTCTCTCT	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	29045103	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01261.hp1 HG02129.hp1 others(10): Show HG01258.hp1 HG01261.hp1 HG02129.hp1 HG02129.hp2 HG03710.hp1 NA18944.hp2 NA18953.hp2 NA18962.hp1 NA18971.hp2 NA18981.hp1 NA18990.hp2 NA19002.hp2 NA19085.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0008 a0001c0001 a0002c0002 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0019 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0003c0008t0002	a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0030 others(10): Show a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0030 a0001c0001t0001g0051 a0001c0001t0002g0154 a0001c0001t0003g0157 a0001c0001t0004g0065 a0001c0001t0007g0136 a0001c0001t0019g0179 a0002c0002t0002g0129 a0002c0002t0004g0025 a0002c0002t0007g0140 a0003c0008t0002g0141	13	204	0.0637	18	c.-40 others(35): Show c.-40-8742_-40-8741insTCTCTCTCTCTCTCTCTT	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	3/14			chr15	TogoVar
APBA2_chr15_28880974_29123315	29052454	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0130 a0002c0002t0006g0130	1	204	0.0049	18	c.-40 others(35): Show c.-40-1377_-40-1376insAAAAAAAAAAAAAAAAAA	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	29055668	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0196 a0001c0001t0003g0196	1	204	0.0049	18	c.951 others(33): Show c.951+860_951+877dupGTGTGTGTGTGTGTGTGT	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBB1IP_chr10_26433341_26572803	26516543	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA19089.hp1 NA21309.hp2 NA18975.hp2 NA19089.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0083 a0001c0001t0002g0318 a0001c0001t0001g0003 a0001c0001t0001g0083 a0001c0001t0002g0318	3	358	0.0084	18	c.813 others(35): Show c.813+2884_813+2901dupAAAAAAAAAAAAAAAAAA	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26524955	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18971.hp1 NA19068.hp1 others(1): Show HG00597.hp1 NA18971.hp1 NA19068.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0045 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0045 a0001c0001t0001g0051	4	358	0.0112	18	c.814 others(35): Show c.814-8482_814-8465dupTTTTTTTTTTTTTTTTTT	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26524974	T T	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01496.hp2 HG03654.hp2 others(3): Show HG01099.hp1 HG01496.hp2 HG03654.hp2 HG04115.hp1 NA19086.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0069 others(3): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0069 a0001c0001t0001g0097 a0001c0001t0001g0123 a0001c0001t0002g0249	6	358	0.0168	18	c.814 others(35): Show c.814-8465_814-8464insTTTTTTTTTTTTTTTTTA	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14			chr10	TogoVar
APBB2_chr4_40805027_41219542	40832013	T T	TATACACA others(11): Show TATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18944.hp1 HG03579.hp2 NA18944.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0009 a0001c0002t0001 a0002c0001t0009	a0001c0002t0001g0109 a0002c0001t0009g0186 a0001c0002t0001g0109 a0002c0001t0009g0186	2	192	0.0104	18	c.153 others(37): Show c.1530-1437_1530-1436insGTGTGTGTGTGTGTGTAT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40845588	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0087 a0002c0001t0007g0087	1	192	0.0052	18	c.153 others(39): Show c.1530-15029_1530-15012dupTTTTTTTTTTTTTTTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40851717	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0023 a0002c0001t0023	a0002c0001t0023g0184 a0002c0001t0023g0184	1	192	0.0052	18	c.153 others(39): Show c.1530-21158_1530-21141dupATATATATATATATATAT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40858454	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0164 a0001c0003t0001g0164	1	192	0.0052	18	c.153 others(39): Show c.1530-27895_1530-27878dupTTTTTTTTTTTTTTTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40882030	C C	CCCTCCAT others(11): Show CCCTCCATATGGTGGACAG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG03491.hp1 HG01169.hp2 HG03491.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0004 a0001c0004t0003 a0001c0004t0004	a0001c0004t0003g0043 a0001c0004t0004g0044 a0001c0004t0003g0043 a0001c0004t0004g0044	2	192	0.0104	18	c.152 others(37): Show c.1529+8333_1529+8334insCTGTCCACCATATGGAGG	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	12/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40898880	C C	CACACACA others(11): Show CACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0047 a0002c0001t0047	a0002c0001t0047g0057 a0002c0001t0047g0057	1	192	0.0052	18	c.125 others(37): Show c.1255-5470_1255-5469insCTGTGTGTGTGTGTGTGT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	10/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40901909	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19043.hp2 HG02559.hp2 NA19043.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0022 a0002c0001t0001 a0002c0001t0022	a0002c0001t0001g0148 a0002c0001t0022g0091 a0002c0001t0001g0148 a0002c0001t0022g0091	2	192	0.0104	18	c.125 others(37): Show c.1255-8516_1255-8499dupCACACACACACACACACA	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	10/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40946254	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01192.hp2 HG03139.hp1 others(3): Show HG01175.hp1 HG01192.hp2 HG03139.hp1 HG03540.hp2 NA18999.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0002c0001t0001 others(3): Show a0001c0002t0001 a0001c0002t0002 a0002c0001t0001 a0002c0001t0004 a0002c0001t0005 a0002c0001t0007	a0001c0002t0001g0179 a0001c0002t0002g0122 a0002c0001t0001g0117 others(3): Show a0001c0002t0001g0179 a0001c0002t0002g0122 a0002c0001t0001g0117 a0002c0001t0004g0132 a0002c0001t0005g0167 a0002c0001t0007g0087	6	192	0.0313	18	c.836 others(35): Show c.836-1182_836-1181insGTTTTTTTTTTTTTTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar
APBB2_chr4_40805027_41219542	40948890	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03453.hp2 HG02886.hp1 HG03453.hp2	a0002 a0002	a0002c0001 a0002c0005 a0002c0001 a0002c0005	a0002c0001t0006 a0002c0005t0023 a0002c0001t0006 a0002c0005t0023	a0002c0001t0006g0115 a0002c0005t0023g0165 a0002c0001t0006g0115 a0002c0005t0023g0165	2	192	0.0104	18	c.836 others(35): Show c.836-3835_836-3818dupTTTTTTTTTTTTTTTTTT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17			chr4	TogoVar

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