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
AHRR_chr5_316714_443285	344378	G G	GGCTGTGT others(17): Show GGCTGTGTGTCTGCGGGTGGGGGGA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0001 a0002c0019t0001	a0002c0019t0001g0134 a0002c0019t0001g0134	1	268	0.0037	24	c.62+ others(37): Show c.62+435_62+436insGGAGCTGTGTGTCTGCGGGTGGGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHR_chr7_17293652_17351147	17294004	G G	GTATATAT others(17): Show GTATATATATATATATATATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	370	0.0027	24	c.-52 others(35): Show c.-5261_-5260insTATATATATATATATATATATACA	AHR	ENSG00000106546.14	transcript	ENST00000242057.9	protein_coding		4647		chr7	TogoVar
AIFM1_chrX_130124362_130170841	130150977	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	262	0.0038	24	c.250 others(41): Show c.250-1410_250-1409insTTTTTTTTTTTTTTTTTTTTTTTT	AIFM1	ENSG00000156709.15	transcript	ENST00000287295.8	protein_coding	2/15			chrX	TogoVar
AIFM2_chr10_70107271_70137825	70132764	G G	GGCTCCCG others(17): Show GGCTCCCGCTCCCGCTCCCGCTCCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0057 a0001c0006t0057	a0001c0006t0057g0375 a0001c0006t0057g0375	1	468	0.0021	24	c.-68 others(31): Show c.-68_-45dupGGGAGCGGGAGCGGGAGCGGGAGC	AIFM2	ENSG00000042286.15	transcript	ENST00000307864.3	protein_coding	1/9	8681		chr10	TogoVar
AIFM2_chr10_70107271_70137825	70133098	A A	AAGAGAGA others(17): Show AAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	468	0.0021	24	c.-37 others(33): Show c.-379_-378insCTCTCTCTCTCTCTCTCTCTCTCT	AIFM2	ENSG00000042286.15	transcript	ENST00000307864.3	protein_coding		274		chr10	TogoVar
AIMP2_chr7_6004272_6028834	6009972	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0344 a0001c0001t0002g0344	1	442	0.0023	24	c.135 others(39): Show c.135+475_135+476insTATATATATATATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(17): Show AAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0087	1	442	0.0023	24	c.135 others(39): Show c.135+477_135+478insAAAAAAAAAATATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0132	1	442	0.0023	24	c.135 others(39): Show c.135+477_135+478insAAAAAATATATATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAATA others(17): Show AAAAAATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0298 a0001c0001t0002g0298	1	442	0.0023	24	c.135 others(39): Show c.135+477_135+478insAAAATATACATATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	442	0.0023	24	c.135 others(39): Show c.135+477_135+478insAAAATATATATATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIPL1_chr17_6418738_6440121	6433586	A A	ATCTCTCT others(17): Show ATCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG02602.hp2 others(6): Show HG00558.hp1 HG00673.hp1 HG02602.hp2 NA18975.hp2 NA18986.hp2 NA18991.hp1 NA19001.hp2 NA19012.hp2 NA19074.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0004 a0007c0011 a0001c0002 a0001c0004 a0007c0011	a0001c0002t0007 a0001c0002t0013 a0001c0002t0017 others(4): Show a0001c0002t0007 a0001c0002t0013 a0001c0002t0017 a0001c0002t0023 a0001c0002t0039 a0001c0004t0005 a0007c0011t0020	a0001c0002t0007g0352 a0001c0002t0013g0342 a0001c0002t0017g0351 others(5): Show a0001c0002t0007g0352 a0001c0002t0013g0342 a0001c0002t0017g0351 a0001c0002t0023g0344 a0001c0002t0039g0353 a0001c0004t0005g0038 a0001c0004t0005g0242 a0007c0011t0020g0250	9	454	0.0198	24	c.276 others(39): Show c.276+309_276+332dupGAGAGAGAGAGAGAGAGAGAGAGA	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding	2/5			chr17	TogoVar
AK4_chr1_65143203_65237145	65152360	C C	CTCTCTCT others(17): Show CTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0250 a0001c0002t0005g0250	1	300	0.0033	24	c.145 others(41): Show c.145+3809_145+3810insCTCTCTCTATATATATATATATAT	AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK4_chr1_65143203_65237145	65172103	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0252 a0001c0002t0005g0252	1	300	0.0033	24	c.146 others(43): Show c.146-18606_146-18605insATATATATATATATATATATATTT	AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77358018	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18941.hp1 NA18967.hp2 HG01261.hp2 NA18941.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0003 a0001c0009t0004 a0001c0001t0003 a0001c0009t0004	a0001c0001t0003g0147 a0001c0001t0003g0168 a0001c0009t0004g0091 a0001c0001t0003g0147 a0001c0001t0003g0168 a0001c0009t0004g0091	3	284	0.0106	24	c.891 others(43): Show c.891+17451_891+17452insTGTGTGTGTGTGTGTGTGTGTGAG	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77367569	A A	ATATATAT others(17): Show ATATATATATATATAATATATATGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03540.hp1 HG02258.hp2 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0225 a0002c0002t0002g0226	2	284	0.0070	24	c.891 others(43): Show c.891+27011_891+27012insTATAATATATATGTTATATATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77368245	A A	ATATATAT others(17): Show ATATATATATATATGTTATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00673.hp2 others(47): Show HG00323.hp2 HG00639.hp1 HG00673.hp2 HG01123.hp1 HG01175.hp2 HG01256.hp1 HG01257.hp2 HG01433.hp1 HG01496.hp2 HG02129.hp1 HG02280.hp2 HG02523.hp2 HG02818.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03927.hp1 HG04204.hp2 HG04228.hp2 NA18940.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18953.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA19002.hp2 NA19009.hp1 NA19011.hp2 NA19054.hp1 NA19074.hp1 NA19091.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0003t0001 a0001c0003t0004 a0001c0008t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0002t0011 a0002c0002t0013	a0001c0001t0001g0010 a0001c0001t0001g0055 a0001c0001t0001g0067 others(47): Show a0001c0001t0001g0010 a0001c0001t0001g0055 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0201 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0258 a0001c0001t0003g0166 a0001c0001t0003g0171 a0001c0001t0003g0174 a0001c0001t0003g0178 a0001c0001t0003g0183 a0001c0001t0004g0030 a0001c0001t0004g0043 a0001c0001t0004g0047 a0001c0001t0004g0056 a0001c0001t0004g0202 a0001c0001t0005g0231 a0001c0001t0006g0193 a0001c0001t0006g0233 a0001c0001t0007g0212 a0001c0003t0001g0250 a0001c0003t0004g0253 a0001c0008t0001g0038 a0002c0002t0002g0009 a0002c0002t0002g0026 a0002c0002t0002g0040 a0002c0002t0002g0060 a0002c0002t0002g0068 a0002c0002t0002g0079 a0002c0002t0002g0203 a0002c0002t0002g0223 a0002c0002t0005g0151 a0002c0002t0005g0172 a0002c0002t0005g0177 a0002c0002t0008g0107 a0002c0002t0011g0220 a0002c0002t0013g0197	50	284	0.1761	24	c.891 others(43): Show c.891+27685_891+27686insTATATGTTATATATATTATATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77391495	G G	GTATGTGT others(17): Show GTATGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0277 a0002c0002t0025g0277	1	284	0.0035	24	c.892 others(43): Show c.892-19483_892-19482insGTGTATATATATATATATATATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77391495	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0232 a0002c0002t0013g0232	1	284	0.0035	24	c.892 others(43): Show c.892-19485_892-19484insGTATATATATATATATATATATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77391495	G G	GTGTGTAT others(17): Show GTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0264 a0002c0002t0010g0264	1	284	0.0035	24	c.892 others(43): Show c.892-19485_892-19484insGTGTATATATATATATATATATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK7_chr14_96387128_96494427	96418322	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03486.hp2 HG03130.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0069 a0001c0001t0002g0256 a0001c0001t0001g0069 a0001c0001t0002g0256	2	316	0.0063	24	c.499 others(41): Show c.499-2485_499-2484insAAAAAAAAAAAAAAAAAAAAAAAA	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
AK8_chr9_132720578_132883284	132821769	G G	GTGTATGT others(17): Show GTGTATGTATATACAAATATATACA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03579.hp1 NA18522.hp1 HG02647.hp2 HG03579.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0256 a0002c0002t0001g0003 a0002c0002t0001g0020 a0001c0001t0001g0256 a0002c0002t0001g0003 a0002c0002t0001g0020	3	266	0.0113	24	c.889 others(41): Show c.889+1435_889+1436insTGTATATATTTGTATATACATACA	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	9/12			chr9	TogoVar
AK8_chr9_132720578_132883284	132821770	T T	TGTATGTA others(17): Show TGTATGTATATACAAATATATACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01978.hp1 HG02273.hp1 HG01192.hp1 HG01978.hp1 HG02273.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0013 a0001c0001 a0007c0013	a0001c0001t0001 a0007c0013t0001 a0001c0001t0001 a0007c0013t0001	a0001c0001t0001g0113 a0001c0001t0001g0116 a0007c0013t0001g0118 a0001c0001t0001g0113 a0001c0001t0001g0116 a0007c0013t0001g0118	3	266	0.0113	24	c.889 others(41): Show c.889+1434_889+1435insGTGTATATATTTGTATATACATAC	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	9/12			chr9	TogoVar
AK9_chr6_109487855_109696202	109549664	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0262 a0005c0005t0001g0262	1	378	0.0027	24	c.296 others(41): Show c.2964+425_2964+426insAAAAAAAAAAAAAAAAAAAAAAAA	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	25/40			chr6	TogoVar
AK9_chr6_109487855_109696202	109636750	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0342 a0002c0001t0002g0342	1	378	0.0027	24	c.934 others(41): Show c.934-3451_934-3428dupTGTGTGTGTGTGTGTGTGTGTGTG	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	10/40			chr6	TogoVar
AKAIN1_chr18_5137911_5202257	5192385	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	420	0.0024	24	c.16+ others(39): Show c.16+4629_16+4652dupGAAAGAAAGAAAGAAAGAAAGAAA	AKAIN1	ENSG00000231824.4	transcript	ENST00000434239.4	protein_coding	1/1			chr18	TogoVar
AKAP12_chr6_151234967_151363559	151345932	T T	TGAGAGAG others(17): Show TGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0007 a0003c0004t0003g0007	1	316	0.0032	24	c.320 others(41): Show c.320-2770_320-2747dupGAGAGAGAGAGAGAGAGAGAGAGA	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP13_chr15_85375603_85754355	85468932	T T	TTTTTTTT others(17): Show TTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0034 a0034	a0034c0040 a0034c0040	a0034c0040t0080 a0034c0040t0080	a0034c0040t0080g0230 a0034c0040t0080g0230	1	314	0.0032	24	c.-11 others(43): Show c.-11-16778_-11-16777insTTTTTTTTTTTTTTTTTTTTTTTG	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	1/36			chr15	TogoVar
AKAP13_chr15_85375603_85754355	85498197	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02027.hp1 NA18973.hp2 others(1): Show HG01928.hp2 HG02027.hp1 NA18973.hp2 NA19011.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0001 a0001c0004t0023 a0001c0004t0057 others(1): Show a0001c0004t0001 a0001c0004t0023 a0001c0004t0057 a0003c0003t0030	a0001c0004t0001g0051 a0001c0004t0023g0046 a0001c0004t0057g0056 others(1): Show a0001c0004t0001g0051 a0001c0004t0023g0046 a0001c0004t0057g0056 a0003c0003t0030g0139	4	314	0.0127	24	c.33+ others(41): Show c.33+12445_33+12446insTATATATATATATATATATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85573546	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02965.hp2 HG03098.hp1 others(1): Show HG02717.hp2 HG02965.hp2 HG03098.hp1 HG03516.hp1	a0002 a0007 a0032 a0002 a0007 a0032	a0002c0001 a0007c0010 a0032c0038 a0002c0001 a0007c0010 a0032c0038	a0002c0001t0011 a0007c0010t0001 a0007c0010t0056 others(1): Show a0002c0001t0011 a0007c0010t0001 a0007c0010t0056 a0032c0038t0011	a0002c0001t0011g0222 a0007c0010t0001g0250 a0007c0010t0056g0254 others(1): Show a0002c0001t0011g0222 a0007c0010t0001g0250 a0007c0010t0056g0254 a0032c0038t0011g0247	4	314	0.0127	24	c.663 others(41): Show c.663-1579_663-1556dupAATAAATAAATAAATAAATAAATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85601608	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0049 a0004c0013t0049	a0004c0013t0049g0060 a0004c0013t0049g0060	1	314	0.0032	24	c.416 others(45): Show c.4161+15803_4161+15826dupGTGTGTGTGTGTGTGTGTGTGTGT	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85630234	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0013 a0013	a0013c0025 a0013c0025	a0013c0025t0005 a0013c0025t0005	a0013c0025t0005g0212 a0013c0025t0005g0212	1	314	0.0032	24	c.416 others(43): Show c.4162-9130_4162-9107dupCACACACACACACACACACACACA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85650755	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18991.hp1 HG02071.hp2 NA18991.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0232 a0001c0004t0001g0285 a0001c0004t0001g0232 a0001c0004t0001g0285	2	314	0.0064	24	c.437 others(43): Show c.4375-4650_4375-4627dupAAAAAAAAAAAAAAAAAAAAAAAA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	10/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP14_chrX_119890893_119925716	119913123	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18981.hp1 NA19083.hp1 NA18977.hp1 NA18981.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0154 a0001c0001t0001g0243 a0001c0001t0001g0247	3	304	0.0099	24	c.262 others(41): Show c.262-1568_262-1545dupTAAATAAATAAATAAATAAATAAA	AKAP14	ENSG00000186471.13	transcript	ENST00000371431.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
AKAP1_chr17_57080246_57126344	57100428	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02647.hp1 HG02965.hp2 others(4): Show HG02559.hp2 HG02647.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 NA18906.hp2 NA19030.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0005 a0004c0004t0006 others(1): Show a0004c0004t0003 a0004c0004t0005 a0004c0004t0006 a0004c0004t0016	a0004c0004t0003g0155 a0004c0004t0005g0158 a0004c0004t0005g0161 others(4): Show a0004c0004t0003g0155 a0004c0004t0005g0158 a0004c0004t0005g0161 a0004c0004t0006g0160 a0004c0004t0016g0156 a0004c0004t0016g0157 a0004c0004t0016g0159	7	396	0.0177	24	c.-24 others(41): Show c.-24-4995_-24-4994insACACACACACACACACACACACAC	AKAP1	ENSG00000121057.13	transcript	ENST00000337714.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
AKAP3_chr12_4610518_4654051	4624809	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03834.hp2 HG03942.hp1 others(1): Show HG00558.hp1 HG03834.hp2 HG03942.hp1 NA19000.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0003 a0005c0007 a0001c0002 a0002c0003 a0005c0007	a0001c0002t0002 a0002c0003t0001 a0005c0007t0002 a0001c0002t0002 a0002c0003t0001 a0005c0007t0002	a0001c0002t0002g0323 a0002c0003t0001g0201 a0002c0003t0001g0204 others(1): Show a0001c0002t0002g0323 a0002c0003t0001g0201 a0002c0003t0001g0204 a0005c0007t0002g0313	4	418	0.0096	24	c.240 others(43): Show c.2406+1686_2406+1687insACACACACACACACACACACACAC	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/5			chr12	TogoVar
AKAP3_chr12_4610518_4654051	4624824	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02965.hp2 NA18940.hp2 others(7): Show HG00673.hp1 HG02965.hp2 NA18940.hp2 NA18941.hp2 NA18971.hp1 NA18986.hp1 NA18999.hp1 NA19006.hp2 NA19057.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0002c0003t0006 a0001c0001t0002 a0002c0003t0001 a0002c0003t0006	a0001c0001t0002g0340 a0002c0003t0001g0191 a0002c0003t0001g0194 others(7): Show a0001c0001t0002g0340 a0002c0003t0001g0191 a0002c0003t0001g0194 a0002c0003t0001g0196 a0002c0003t0001g0203 a0002c0003t0001g0213 a0002c0003t0001g0224 a0002c0003t0001g0243 a0002c0003t0001g0245 a0002c0003t0006g0227	10	418	0.0239	24	c.240 others(43): Show c.2406+1671_2406+1672insTACACACACACACACACACACACA	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/5			chr12	TogoVar
AKAP3_chr12_4610518_4654051	4632725	C C	CTGCCTCC others(17): Show CTGCCTCCCGAGTTCATGACATTCT	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0042 a0004c0005t0001g0042	1	418	0.0024	24	c.97- others(39): Show c.97-3944_97-3921dupAGAATGTCATGAACTCGGGAGGCA	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	4/5			chr12	TogoVar
AKAP6_chr14_32324298_32842684	32404691	G G	GATAGATA others(17): Show GATAGATAGATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0152 a0002c0002t0003g0152	1	154	0.0065	24	c.-34 others(43): Show c.-34-28766_-34-28765insGATAGATATATATATATATATATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32404691	G G	GATAGATA others(17): Show GATAGATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0006 a0001c0010t0005g0006	1	154	0.0065	24	c.-34 others(43): Show c.-34-28766_-34-28765insGATATATATATATATATATATATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32404691	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01256.hp1 HG01256.hp2 others(13): Show HG00140.hp1 HG01256.hp1 HG01256.hp2 HG01346.hp2 HG01891.hp2 HG02109.hp1 HG02630.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG03098.hp1 HG03490.hp2 NA18522.hp2 NA18954.hp2 NA19043.hp2 NA19077.hp2	a0001 a0002 a0008 others(5): Show a0001 a0002 a0008 a0012 a0014 a0015 a0020 a0027	a0001c0001 a0001c0004 a0001c0006 others(10): Show a0001c0001 a0001c0004 a0001c0006 a0001c0010 a0001c0019 a0002c0002 a0002c0025 a0008c0055 a0012c0052 a0014c0037 a0015c0046 a0020c0038 a0027c0030	a0001c0001t0001 a0001c0001t0046 a0001c0004t0005 others(12): Show a0001c0001t0001 a0001c0001t0046 a0001c0004t0005 a0001c0006t0007 a0001c0010t0005 a0001c0019t0001 a0002c0002t0001 a0002c0002t0036 a0002c0025t0004 a0008c0055t0006 a0012c0052t0012 a0014c0037t0003 a0015c0046t0001 a0020c0038t0006 a0027c0030t0001	a0001c0001t0001g0125 a0001c0001t0046g0004 a0001c0004t0005g0121 others(13): Show a0001c0001t0001g0125 a0001c0001t0046g0004 a0001c0004t0005g0121 a0001c0006t0007g0099 a0001c0010t0005g0070 a0001c0019t0001g0143 a0002c0002t0001g0052 a0002c0002t0001g0056 a0002c0002t0036g0137 a0002c0025t0004g0115 a0008c0055t0006g0105 a0012c0052t0012g0141 a0014c0037t0003g0100 a0015c0046t0001g0126 a0020c0038t0006g0048 a0027c0030t0001g0154	16	154	0.1039	24	c.-34 others(43): Show c.-34-28749_-34-28748insATATATATATATATATATATATAT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32454885	C C	CTCCCTCC others(17): Show CTCCCTCCTTCCCTCCTTCCCTCCT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA19056.hp1 NA18959.hp2 NA19056.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0011 a0003c0003 a0005c0011	a0003c0003t0002 a0005c0011t0005 a0003c0003t0002 a0005c0011t0005	a0003c0003t0002g0096 a0005c0011t0005g0005 a0003c0003t0002g0096 a0005c0011t0005g0005	2	154	0.0130	24	c.324 others(43): Show c.324+21086_324+21087insCCTCCTTCCCTCCTTCCCTCCTTC	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32466827	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02055.hp1 HG02165.hp2 others(5): Show HG01993.hp2 HG02055.hp1 HG02165.hp2 HG02572.hp1 HG02897.hp2 HG03130.hp1 NA18942.hp2 NA18995.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0016	a0001c0001 a0001c0006 a0002c0002 others(5): Show a0001c0001 a0001c0006 a0002c0002 a0002c0009 a0003c0003 a0005c0050 a0006c0008 a0016c0022	a0001c0001t0049 a0001c0006t0015 a0002c0002t0003 others(5): Show a0001c0001t0049 a0001c0006t0015 a0002c0002t0003 a0002c0009t0003 a0003c0003t0002 a0005c0050t0007 a0006c0008t0016 a0016c0022t0013	a0001c0001t0049g0015 a0001c0006t0015g0135 a0002c0002t0003g0086 others(5): Show a0001c0001t0049g0015 a0001c0006t0015g0135 a0002c0002t0003g0086 a0002c0009t0003g0081 a0003c0003t0002g0037 a0005c0050t0007g0150 a0006c0008t0016g0043 a0016c0022t0013g0044	8	154	0.0520	24	c.324 others(43): Show c.324+33029_324+33030insATATATATATATATATATATATAT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32492355	T T	TATATATA others(17): Show TATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19062.hp2 NA18995.hp2 NA19062.hp2	a0005 a0008 a0005 a0008	a0005c0011 a0008c0014 a0005c0011 a0008c0014	a0005c0011t0001 a0008c0014t0027 a0005c0011t0001 a0008c0014t0027	a0005c0011t0001g0083 a0008c0014t0027g0054 a0005c0011t0001g0083 a0008c0014t0027g0054	2	154	0.0130	24	c.325 others(43): Show c.325-43198_325-43197insTATATATAGAGAGAGAGAGAGAGA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32492355	T T	TATATATA others(17): Show TATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0084 a0001c0010t0001g0084	1	154	0.0065	24	c.325 others(43): Show c.325-43198_325-43197insTATATATATAGAGAGAGAGAGAGA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32492355	T T	TATATATA others(17): Show TATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0016 a0001c0001t0030g0016	1	154	0.0065	24	c.325 others(43): Show c.325-43198_325-43197insTATATATATATAGAGAGAGAGAGA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32492355	T T	TATATATA others(17): Show TATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0028 a0028	a0028c0051 a0028c0051	a0028c0051t0002 a0028c0051t0002	a0028c0051t0002g0011 a0028c0051t0002g0011	1	154	0.0065	24	c.325 others(43): Show c.325-43198_325-43197insTATATATATATATAGAGAGAGAGA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32492355	T T	TATATATA others(17): Show TATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0053 a0003c0005t0002g0053	1	154	0.0065	24	c.325 others(43): Show c.325-43198_325-43197insTATATATATATATATATAGAGAGA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32510423	T T	TACATATA others(17): Show TACATATATATGTATATATATATAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0109 a0003c0003t0005g0109	1	154	0.0065	24	c.325 others(43): Show c.325-25121_325-25120insGTATATATATATACACATATATAT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32540168	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02897.hp2 HG02615.hp2 HG02897.hp2	a0005 a0007 a0005 a0007	a0005c0050 a0007c0015 a0005c0050 a0007c0015	a0005c0050t0007 a0007c0015t0018 a0005c0050t0007 a0007c0015t0018	a0005c0050t0007g0150 a0007c0015t0018g0089 a0005c0050t0007g0150 a0007c0015t0018g0089	2	154	0.0130	24	c.576 others(41): Show c.576+4364_576+4365insCTCTCTCTCTCTCTATATATATAT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32615591	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0017 a0001c0006t0017	a0001c0006t0017g0079 a0001c0006t0017g0079	1	154	0.0065	24	c.273 others(45): Show c.2730+14821_2730+14822insTTTTTTTTTTTTTTTTTTTTTTTT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr14	TogoVar

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