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 per page.

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
AHCYL2_chr7_129220030_129435211	129299369	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp1 others(68): Show HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00558.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01981.hp2 HG02074.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02293.hp2 HG02451.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG03453.hp2 HG03491.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18942.hp1 NA18946.hp2 NA18950.hp2 NA18952.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18974.hp2 NA18980.hp1 NA18982.hp1 NA18985.hp2 NA18989.hp2 NA18994.hp1 NA19012.hp1 NA19043.hp2 NA19054.hp1 NA19060.hp1 NA19079.hp2 NA19091.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0002t0001 a0003c0004t0001	a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 others(68): Show a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0002g0009 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0058 a0001c0001t0002g0075 a0001c0001t0002g0084 a0001c0001t0002g0110 a0001c0001t0002g0278 a0001c0001t0005g0051 a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0063 a0001c0001t0009g0089 a0001c0001t0009g0090 a0001c0001t0009g0099 a0001c0001t0011g0033 a0001c0001t0014g0067 a0001c0001t0014g0068 a0001c0001t0015g0077 a0001c0001t0017g0066 a0001c0001t0021g0092 a0001c0001t0022g0050 a0001c0001t0023g0095 a0001c0001t0025g0082 a0001c0002t0001g0267 a0001c0002t0001g0269 a0003c0004t0001g0042	71	292	0.2432	-17	c.363 others(36): Show c.363+73956_363+73972delTTTTTTTTTTTTTTTTT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129308179	TCCTAGTG others(10): Show TCCTAGTGGCCTAGACAG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp2 HG02886.hp1 others(1): Show HG02717.hp1 HG02723.hp2 HG02886.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0022	a0001c0001t0001g0088 a0001c0001t0002g0049 a0001c0001t0005g0051 others(1): Show a0001c0001t0001g0088 a0001c0001t0002g0049 a0001c0001t0005g0051 a0001c0001t0022g0050	4	292	0.0137	-17	c.364 others(36): Show c.364-71455_364-71439delAGTGGCCTAGACAGCCT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHI1_chr6_135278532_135502740	135293392	CAAAAAAA others(10): Show CAAAAAAAAAAAAAGAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02922.hp2 HG00639.hp1 HG02922.hp2	a0001 a0001	a0001c0013 a0001c0018 a0001c0013 a0001c0018	a0001c0013t0007 a0001c0018t0007 a0001c0013t0007 a0001c0018t0007	a0001c0013t0007g0168 a0001c0018t0007g0175 a0001c0013t0007g0168 a0001c0018t0007g0175	2	220	0.0091	-17	c.348 others(36): Show c.3486-2884_3486-2868delTTTCTTTTTTTTTTTTT	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	27/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135419647	GTCTTCAG others(10): Show GTCTTCAGTTAATCATAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	220	0.0046	-17	c.276 others(36): Show c.2764+7503_2764+7519delTTATGATTAACTGAAGA	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	20/28			chr6	TogoVar
AHNAK2_chr14_104932253_104983374	104954899	CAGCCAGC others(10): Show CAGCCAGCAGGGTAGTGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(78): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02129.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18940.hp2 NA18953.hp1 NA19002.hp1 NA19004.hp2 NA19043.hp2 NA19055.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0011 a0021 others(41): Show a0001 a0011 a0021 a0022 a0025 a0029 a0030 a0031 a0032 a0034 a0044 a0051 a0052 a0069 a0104 a0105 a0107 a0108 a0109 a0110 a0111 a0112 a0113 a0114 a0115 a0116 a0117 a0118 a0119 a0120 a0121 a0122 a0123 a0125 a0126 a0127 a0128 a0131 a0132 a0144 a0169 a0195 a0203 a0205	a0001c0001 a0001c0003 a0001c0045 others(49): Show a0001c0001 a0001c0003 a0001c0045 a0011c0012 a0021c0219 a0021c0220 a0021c0244 a0022c0044 a0022c0215 a0025c0052 a0025c0248 a0029c0047 a0030c0223 a0030c0226 a0031c0046 a0032c0050 a0034c0048 a0044c0049 a0051c0051 a0052c0208 a0052c0209 a0069c0184 a0104c0212 a0105c0211 a0107c0234 a0108c0218 a0109c0222 a0110c0221 a0111c0232 a0112c0227 a0113c0216 a0114c0225 a0115c0217 a0116c0229 a0117c0224 a0118c0230 a0119c0228 a0120c0214 a0121c0231 a0122c0213 a0123c0233 a0125c0242 a0126c0240 a0127c0241 a0128c0239 a0131c0235 a0132c0236 a0144c0238 a0169c0237 a0195c0243 a0203c0210 a0205c0245	a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 others(49): Show a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 a0011c0012t0002 a0021c0219t0002 a0021c0220t0002 a0021c0244t0002 a0022c0044t0002 a0022c0215t0002 a0025c0052t0002 a0025c0248t0002 a0029c0047t0002 a0030c0223t0007 a0030c0226t0007 a0031c0046t0002 a0032c0050t0003 a0034c0048t0003 a0044c0049t0003 a0051c0051t0001 a0052c0208t0002 a0052c0209t0002 a0069c0184t0002 a0104c0212t0002 a0105c0211t0002 a0107c0234t0002 a0108c0218t0002 a0109c0222t0007 a0110c0221t0002 a0111c0232t0002 a0112c0227t0007 a0113c0216t0002 a0114c0225t0002 a0115c0217t0002 a0116c0229t0002 a0117c0224t0002 a0118c0230t0002 a0119c0228t0002 a0120c0214t0002 a0121c0231t0002 a0122c0213t0015 a0123c0233t0002 a0125c0242t0003 a0126c0240t0003 a0127c0241t0003 a0128c0239t0003 a0131c0235t0003 a0132c0236t0003 a0144c0238t0003 a0169c0237t0003 a0195c0243t0003 a0203c0210t0003 a0205c0245t0002	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 others(60): Show a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0003t0002g0002 a0001c0003t0002g0055 a0001c0003t0002g0060 a0001c0003t0002g0264 a0001c0045t0002g0013 a0011c0012t0002g0006 a0021c0219t0002g0260 a0021c0220t0002g0263 a0021c0244t0002g0261 a0022c0044t0002g0057 a0022c0044t0002g0059 a0022c0215t0002g0224 a0025c0052t0002g0014 a0025c0248t0002g0063 a0029c0047t0002g0031 a0030c0223t0007g0255 a0030c0226t0007g0256 a0031c0046t0002g0250 a0031c0046t0002g0257 a0032c0050t0003g0136 a0032c0050t0003g0145 a0034c0048t0003g0023 a0044c0049t0003g0131 a0044c0049t0003g0133 a0051c0051t0001g0024 a0052c0208t0002g0231 a0052c0209t0002g0232 a0069c0184t0002g0209 a0104c0212t0002g0259 a0105c0211t0002g0061 a0107c0234t0002g0252 a0108c0218t0002g0303 a0109c0222t0007g0254 a0110c0221t0002g0253 a0111c0232t0002g0066 a0112c0227t0007g0207 a0113c0216t0002g0058 a0114c0225t0002g0234 a0115c0217t0002g0064 a0116c0229t0002g0233 a0117c0224t0002g0249 a0118c0230t0002g0262 a0119c0228t0002g0258 a0120c0214t0002g0062 a0121c0231t0002g0251 a0122c0213t0015g0304 a0123c0233t0002g0299 a0125c0242t0003g0137 a0126c0240t0003g0146 a0127c0241t0003g0138 a0128c0239t0003g0135 a0131c0235t0003g0132 a0132c0236t0003g0147 a0144c0238t0003g0070 a0169c0237t0003g0139 a0195c0243t0003g0148 a0203c0210t0003g0149 a0205c0245t0002g0067	81	356	0.2275	-17	c.651 others(30): Show c.651+41_651+57delTCACTACCCTGCTGGCT	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	6/6			chr14	TogoVar
AHRR_chr5_316714_443285	441497	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0255 a0002c0002t0001g0255	1	268	0.0037	-17	c.66 others(28): Show c.6664_*6680delTTTTTTTTTTTTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3213		chr5	TogoVar
AIFM2_chr10_70107271_70137825	70125437	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0144 a0001c0002t0003g0144	1	468	0.0021	-17	c.-13 others(34): Show c.-13-1357_-13-1341delTTTTTTTTTTTTTTTTT	AIFM2	ENSG00000042286.15	transcript	ENST00000307864.3	protein_coding	1/8			chr10	TogoVar
AIFM2_chr10_70107271_70137825	70133097	AAAGAGAG others(10): Show AAAGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0017 a0001c0001t0014g0017	1	468	0.0021	-17	c.-39 others(26): Show c.-394_-378delCTCTCTCTCTCTCTCTT	AIFM2	ENSG00000042286.15	transcript	ENST00000307864.3	protein_coding		273		chr10	TogoVar
AIG1_chr6_143055889_143346058	143060787	CCCCCGCC others(10): Show CCCCCGCCCCCGCCCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	204	0.0049	-17	c.-13 others(26): Show c.-138_-122delCCCCGCCCCCGCCCCCG	AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding		101		chr6	TogoVar
AIM2_chr1_159057484_159081766	159059252	CACACACA others(10): Show CACACACACACACACCAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	394	0.0025	-17	c.34 others(28): Show c.3423_*3439delTTGGTGTGTGTGTGTGT	AIM2	ENSG00000163568.16	transcript	ENST00000368130.9	protein_coding		3231		chr1	TogoVar
AIMP1_chr4_106311550_106354456	106350000	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02630.hp1 HG02630.hp2 others(10): Show HG02080.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp1 NA19030.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0003c0003t0001	a0001c0001t0001g0034 a0001c0001t0001g0049 a0001c0001t0001g0251 others(9): Show a0001c0001t0001g0034 a0001c0001t0001g0049 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0006g0177 a0001c0001t0008g0172 a0001c0001t0008g0173 a0003c0003t0001g0192 a0003c0003t0001g0194 a0003c0003t0001g0195 a0003c0003t0001g0196 a0003c0003t0001g0198	13	384	0.0339	-17	c.23 others(28): Show c.2309_*2325delAAAAAAAAAAAAAAAAA	AIMP1	ENSG00000164022.18	transcript	ENST00000672341.1	protein_coding		545		chr4	TogoVar
AIRE_chr21_44280876_44303648	44284778	CCAGAGAC others(10): Show CCAGAGACCTCTCGTGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0114 a0001c0019t0001g0114	1	426	0.0024	-17	c.-12 others(28): Show c.-1228_-1212delCAGAGACCTCTCGTGGT	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding		1097		chr21	TogoVar
AIRE_chr21_44280876_44303648	44300726	GGCTGCCC others(10): Show GGCTGCCCGGGGCATTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00558.hp1 others(136): Show HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG02004.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03942.hp1 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18941.hp1 NA18945.hp1 NA18951.hp2 NA18956.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18989.hp2 NA18998.hp1 NA18999.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19085.hp1 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009	a0001c0001 a0001c0003 a0001c0004 others(24): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0016 a0001c0018 a0001c0024 a0001c0030 a0001c0038 a0001c0041 a0001c0043 a0002c0002 a0002c0007 a0002c0008 a0002c0015 a0002c0021 a0002c0026 a0003c0020 a0003c0031 a0004c0027 a0006c0045 a0007c0039 a0009c0047	a0001c0001t0001 a0001c0003t0002 a0001c0004t0001 others(39): Show a0001c0001t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0009t0001 a0001c0010t0001 a0001c0010t0003 a0001c0010t0008 a0001c0013t0002 a0001c0014t0001 a0001c0016t0001 a0001c0016t0004 a0001c0018t0002 a0001c0024t0001 a0001c0030t0001 a0001c0038t0001 a0001c0041t0001 a0001c0043t0001 a0002c0002t0001 a0002c0002t0002 a0002c0007t0001 a0002c0007t0002 a0002c0007t0003 a0002c0008t0001 a0002c0008t0002 a0002c0015t0001 a0002c0015t0002 a0002c0015t0003 a0002c0021t0005 a0002c0021t0006 a0002c0021t0011 a0002c0026t0006 a0003c0020t0001 a0003c0031t0005 a0004c0027t0002 a0006c0045t0001 a0007c0039t0008 a0009c0047t0013	a0001c0001t0001g0021 a0001c0001t0001g0047 a0001c0001t0001g0159 others(94): Show a0001c0001t0001g0021 a0001c0001t0001g0047 a0001c0001t0001g0159 a0001c0001t0001g0171 a0001c0003t0002g0003 a0001c0003t0002g0005 a0001c0003t0002g0013 a0001c0003t0002g0040 a0001c0003t0002g0119 a0001c0003t0002g0122 a0001c0003t0002g0182 a0001c0003t0002g0188 a0001c0003t0002g0191 a0001c0004t0001g0078 a0001c0004t0001g0113 a0001c0004t0002g0003 a0001c0004t0002g0013 a0001c0004t0002g0055 a0001c0004t0002g0062 a0001c0004t0002g0172 a0001c0004t0002g0184 a0001c0004t0002g0185 a0001c0004t0002g0186 a0001c0004t0002g0187 a0001c0004t0002g0189 a0001c0004t0002g0190 a0001c0004t0002g0193 a0001c0004t0003g0025 a0001c0004t0003g0118 a0001c0004t0003g0200 a0001c0004t0003g0223 a0001c0005t0001g0048 a0001c0005t0001g0138 a0001c0005t0002g0019 a0001c0005t0002g0094 a0001c0005t0004g0067 a0001c0005t0004g0068 a0001c0009t0001g0028 a0001c0009t0001g0070 a0001c0009t0001g0083 a0001c0009t0001g0093 a0001c0009t0001g0105 a0001c0009t0001g0181 a0001c0009t0001g0217 a0001c0010t0001g0063 a0001c0010t0001g0198 a0001c0010t0001g0221 a0001c0010t0001g0225 a0001c0010t0001g0228 a0001c0010t0001g0232 a0001c0010t0003g0082 a0001c0010t0003g0229 a0001c0010t0008g0236 a0001c0013t0002g0005 a0001c0013t0002g0024 a0001c0014t0001g0219 a0001c0016t0001g0088 a0001c0016t0001g0106 a0001c0016t0004g0030 a0001c0016t0004g0031 a0001c0016t0004g0066 a0001c0018t0002g0112 a0001c0024t0001g0130 a0001c0030t0001g0226 a0001c0038t0001g0242 a0001c0041t0001g0001 a0001c0043t0001g0169 a0002c0002t0001g0032 a0002c0002t0001g0043 a0002c0002t0002g0058 a0002c0007t0001g0034 a0002c0007t0001g0077 a0002c0007t0001g0104 a0002c0007t0002g0033 a0002c0007t0002g0086 a0002c0007t0003g0042 a0002c0007t0003g0099 a0002c0007t0003g0102 a0002c0007t0003g0103 a0002c0008t0001g0131 a0002c0008t0002g0133 a0002c0015t0001g0071 a0002c0015t0001g0076 a0002c0015t0001g0212 a0002c0015t0002g0222 a0002c0015t0003g0069 a0002c0015t0003g0211 a0002c0021t0005g0136 a0002c0021t0006g0037 a0002c0021t0011g0065 a0002c0026t0006g0037 a0003c0020t0001g0215 a0003c0031t0005g0227 a0004c0027t0002g0061 a0006c0045t0001g0098 a0007c0039t0008g0192 a0009c0047t0013g0120	139	426	0.3263	-17	c.30 others(28): Show c.3000_*3016delGCTGCCCGGGGCATTGA	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding		2079		chr21	TogoVar
AK4_chr1_65143203_65237145	65152376	ATATATAT others(10): Show ATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0137 a0001c0002t0002g0137	1	300	0.0033	-17	c.145 others(34): Show c.145+3826_145+3842delATATATATTTTTTTTTT	AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK4_chr1_65143203_65237145	65152384	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	300	0.0033	-17	c.145 others(34): Show c.145+3852_145+3868delTTTTTTTTTTTTTTTTT	AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77470846	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0091 a0001c0009t0004g0091	1	284	0.0035	-17	c.106 others(38): Show c.1060-12470_1060-12454delATATATATATATATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13			chr1	TogoVar
AK5_chr1_77277019_77564966	77470848	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18960.hp2 NA18990.hp2 others(2): Show NA18522.hp1 NA18960.hp2 NA18990.hp2 NA18994.hp1 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0002t0005 a0002c0004t0002 others(1): Show a0002c0002t0002 a0002c0002t0005 a0002c0004t0002 a0002c0004t0018	a0002c0002t0002g0271 a0002c0002t0005g0177 a0002c0004t0002g0249 others(2): Show a0002c0002t0002g0271 a0002c0002t0005g0177 a0002c0004t0002g0249 a0002c0004t0018g0251 a0002c0004t0018g0256	5	284	0.0176	-17	c.106 others(38): Show c.1060-12468_1060-12452delATATATATATATATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13			chr1	TogoVar
AK5_chr1_77277019_77564966	77470850	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp1 HG01261.hp1 others(5): Show HG00673.hp1 HG00735.hp1 HG01261.hp1 HG01952.hp1 HG02027.hp2 HG02257.hp1 NA19240.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006	a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 a0002c0002t0005 a0002c0006t0014	a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0128 others(5): Show a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0128 a0001c0003t0001g0239 a0002c0002t0002g0016 a0002c0002t0002g0023 a0002c0002t0005g0148 a0002c0006t0014g0089	8	284	0.0282	-17	c.106 others(38): Show c.1060-12466_1060-12450delATATATATATATATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13			chr1	TogoVar
AK5_chr1_77277019_77564966	77470852	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01433.hp1 HG01891.hp2 others(9): Show HG00609.hp2 HG01433.hp1 HG01891.hp2 HG01993.hp1 HG02280.hp2 HG02602.hp1 HG02738.hp2 HG02896.hp1 HG03041.hp2 HG03195.hp2 HG03704.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0002c0002t0002 a0002c0002t0005 a0002c0002t0013 a0002c0004t0012	a0001c0001t0001g0015 a0001c0001t0001g0136 a0001c0001t0001g0216 others(9): Show a0001c0001t0001g0015 a0001c0001t0001g0136 a0001c0001t0001g0216 a0001c0001t0004g0024 a0001c0001t0004g0043 a0001c0001t0007g0212 a0001c0001t0007g0235 a0002c0002t0002g0002 a0002c0002t0002g0037 a0002c0002t0005g0172 a0002c0002t0013g0197 a0002c0004t0012g0131	12	284	0.0423	-17	c.106 others(38): Show c.1060-12464_1060-12448delATATATATATATATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13			chr1	TogoVar
AK5_chr1_77277019_77564966	77470854	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02572.hp1 others(3): Show HG01070.hp1 HG01071.hp2 HG02572.hp1 NA19010.hp2 NA19043.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0002c0002t0012 a0001c0001t0003 a0001c0001t0004 a0002c0002t0012	a0001c0001t0003g0190 a0001c0001t0003g0229 a0001c0001t0004g0269 others(3): Show a0001c0001t0003g0190 a0001c0001t0003g0229 a0001c0001t0004g0269 a0001c0001t0004g0270 a0002c0002t0012g0032 a0002c0002t0012g0275	6	284	0.0211	-17	c.106 others(38): Show c.1060-12462_1060-12446delATATATATATATATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13			chr1	TogoVar
AK5_chr1_77277019_77564966	77470856	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18957.hp1 HG01106.hp1 NA18957.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0008 a0002c0002t0002g0070 a0001c0001t0001g0008 a0002c0002t0002g0070	2	284	0.0070	-17	c.106 others(38): Show c.1060-12460_1060-12444delATATATATATATATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13			chr1	TogoVar
AK5_chr1_77277019_77564966	77470858	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02129.hp2 NA18982.hp1 others(2): Show HG02071.hp1 HG02129.hp2 NA18982.hp1 NA18982.hp2 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0001c0001t0001 a0001c0001t0003 a0002c0002t0002	a0001c0001t0001g0048 a0001c0001t0001g0211 a0001c0001t0003g0155 others(2): Show a0001c0001t0001g0048 a0001c0001t0001g0211 a0001c0001t0003g0155 a0001c0001t0003g0184 a0002c0002t0002g0059	5	284	0.0176	-17	c.106 others(38): Show c.1060-12458_1060-12442delATATATATATATATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13			chr1	TogoVar
AK5_chr1_77277019_77564966	77482992	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00609.hp2 others(27): Show HG00323.hp1 HG00438.hp2 HG00609.hp2 HG01071.hp1 HG01099.hp2 HG01256.hp2 HG01433.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02129.hp2 HG02135.hp1 HG02622.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03669.hp2 HG03704.hp1 HG04204.hp1 NA18940.hp1 NA18961.hp1 NA18967.hp2 NA19000.hp1 NA19003.hp2 NA19030.hp1 NA19060.hp2 NA19062.hp1 NA19074.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0003t0004 a0002c0002t0002 a0002c0002t0010 a0002c0004t0002 a0002c0004t0010	a0001c0001t0001g0007 a0001c0001t0001g0028 a0001c0001t0001g0111 others(27): Show a0001c0001t0001g0007 a0001c0001t0001g0028 a0001c0001t0001g0111 a0001c0001t0003g0154 a0001c0001t0003g0165 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0174 a0001c0001t0003g0180 a0001c0001t0003g0184 a0001c0001t0004g0022 a0001c0001t0004g0029 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0230 a0001c0001t0006g0233 a0001c0003t0004g0248 a0002c0002t0002g0037 a0002c0002t0002g0050 a0002c0002t0002g0052 a0002c0002t0002g0066 a0002c0002t0002g0068 a0002c0002t0002g0129 a0002c0002t0010g0039 a0002c0002t0010g0105 a0002c0004t0002g0255 a0002c0004t0010g0254	30	284	0.1056	-17	c.106 others(34): Show c.1060-293_1060-277delAAAAAAAAAAAAAAAAA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK8_chr9_132720578_132883284	132848115	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03453.hp2 HG01081.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0024 a0002c0002t0001g0002 a0002c0002t0001g0024	2	266	0.0075	-17	c.402 others(34): Show c.402+6725_402+6741delTTTTTTTTTTTTTTTTT	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	5/12			chr9	TogoVar
AK9_chr6_109487855_109696202	109570278	CGTGGGGT others(10): Show CGTGGGGTGGGGGAAGGG	C C	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0216 a0003c0003t0001g0216	1	378	0.0027	-17	c.234 others(36): Show c.2344+3147_2344+3163delCCCTTCCCCCACCCCAC	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	21/40			chr6	TogoVar
AK9_chr6_109487855_109696202	109684873	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18949.hp1 NA18957.hp2 others(3): Show HG02523.hp2 NA18949.hp1 NA18957.hp2 NA18959.hp2 NA19065.hp1 NA19070.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0004c0004 a0002c0001 a0004c0004	a0002c0001t0002 a0004c0004t0001 a0002c0001t0002 a0004c0004t0001	a0002c0001t0002g0293 a0002c0001t0002g0294 a0002c0001t0002g0295 others(3): Show a0002c0001t0002g0293 a0002c0001t0002g0294 a0002c0001t0002g0295 a0002c0001t0002g0296 a0002c0001t0002g0297 a0004c0004t0001g0173	6	378	0.0159	-17	c.-12 others(34): Show c.-12+6257_-12+6273delTTTTTTTTTTTTTTTTT	AK9	ENSG00000155085.16	transcript	ENST00000424296.7	protein_coding	1/40			chr6	TogoVar
AKAP10_chr17_19899302_19982828	19911835	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03540.hp2 NA19240.hp2 others(1): Show HG03098.hp1 HG03540.hp2 NA19240.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0017 a0001c0001t0020 a0005c0005t0013 a0001c0001t0017 a0001c0001t0020 a0005c0005t0013	a0001c0001t0017g0008 a0001c0001t0020g0009 a0005c0005t0013g0006 others(1): Show a0001c0001t0017g0008 a0001c0001t0020g0009 a0005c0005t0013g0006 a0005c0005t0013g0007	4	278	0.0144	-17	c.183 others(36): Show c.1835-1874_1835-1858delTTTTTTTTTTTTTTTTT	AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	12/14			chr17	TogoVar
AKAP11_chr13_42267152_42328261	42317749	GTGATTGG others(10): Show GTGATTGGTCTAACAAGA	G G	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0163 a0001c0001t0035g0163	1	378	0.0027	-17	c.556 others(32): Show c.5565+64_5565+80delATTGGTCTAACAAGATG	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
AKAP11_chr13_42267152_42328261	42326145	GAATCCTA others(10): Show GAATCCTATAAGAGCTTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0022 a0011c0014t0022	a0011c0014t0022g0151 a0011c0014t0022g0151	1	378	0.0027	-17	c.69 others(28): Show c.6918_*6934delAATCCTATAAGAGCTTA	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding		2885		chr13	TogoVar
AKAP12_chr6_151234967_151363559	151268945	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG02922.hp2 others(3): Show HG02630.hp1 HG02886.hp1 HG02922.hp2 HG03139.hp2 NA19240.hp2 NA21309.hp2	a0002 a0005 a0006 others(2): Show a0002 a0005 a0006 a0007 a0016	a0002c0001 a0005c0006 a0006c0009 others(2): Show a0002c0001 a0005c0006 a0006c0009 a0007c0010 a0016c0016	a0002c0001t0048 a0005c0006t0001 a0005c0006t0028 others(3): Show a0002c0001t0048 a0005c0006t0001 a0005c0006t0028 a0006c0009t0006 a0007c0010t0008 a0016c0016t0009	a0002c0001t0048g0020 a0005c0006t0001g0012 a0005c0006t0028g0117 others(3): Show a0002c0001t0048g0020 a0005c0006t0001g0012 a0005c0006t0028g0117 a0006c0009t0006g0071 a0007c0010t0008g0077 a0016c0016t0009g0111	6	316	0.0190	-17	c.162 others(36): Show c.162+28239_162+28255delTTTTTTTTTTTTTTTTT	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP12_chr6_151234967_151363559	151315824	GAAGGGGA others(10): Show GAAGGGGAAGCAAACACA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01433.hp2 HG02486.hp1 others(9): Show HG01261.hp2 HG01433.hp2 HG02486.hp1 HG02622.hp1 HG02630.hp2 HG02976.hp1 HG03139.hp1 HG03834.hp1 HG03942.hp1 NA19240.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0018 a0021 a0031	a0001c0002 a0002c0001 a0002c0005 others(6): Show a0001c0002 a0002c0001 a0002c0005 a0004c0007 a0004c0056 a0006c0009 a0018c0024 a0021c0066 a0031c0050	a0001c0002t0001 a0002c0001t0002 a0002c0001t0012 others(7): Show a0001c0002t0001 a0002c0001t0002 a0002c0001t0012 a0002c0005t0002 a0004c0007t0004 a0004c0056t0004 a0006c0009t0006 a0018c0024t0006 a0021c0066t0004 a0031c0050t0031	a0001c0002t0001g0054 a0002c0001t0002g0238 a0002c0001t0002g0240 others(9): Show a0001c0002t0001g0054 a0002c0001t0002g0238 a0002c0001t0002g0240 a0002c0001t0012g0176 a0002c0005t0002g0166 a0004c0007t0004g0228 a0004c0056t0004g0197 a0006c0009t0006g0015 a0018c0024t0006g0206 a0018c0024t0006g0247 a0021c0066t0004g0199 a0031c0050t0031g0107	12	316	0.0380	-17	c.319 others(34): Show c.319+9922_319+9938delAAGGGGAAGCAAACACA	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	3/4			chr6	TogoVar
AKAP13_chr15_85375603_85754355	85504503	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0296 a0001c0004t0022g0296	1	314	0.0032	-17	c.34- others(34): Show c.34-16909_34-16893delAAAAAAAAAAAAAAAAA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85630196	CACACACA others(10): Show CACACACACACACATCAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02257.hp1 HG02280.hp2 others(11): Show HG00423.hp2 HG02257.hp1 HG02280.hp2 HG02572.hp1 HG02717.hp1 HG02895.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03209.hp1 HG03516.hp1 HG03540.hp1 NA18971.hp1 NA18994.hp1	a0002 a0003 a0007 others(2): Show a0002 a0003 a0007 a0013 a0039	a0002c0001 a0003c0003 a0007c0010 others(2): Show a0002c0001 a0003c0003 a0007c0010 a0013c0025 a0039c0061	a0002c0001t0002 a0002c0001t0047 a0003c0003t0003 others(5): Show a0002c0001t0002 a0002c0001t0047 a0003c0003t0003 a0007c0010t0001 a0007c0010t0056 a0007c0010t0066 a0013c0025t0005 a0039c0061t0002	a0002c0001t0002g0185 a0002c0001t0047g0221 a0003c0003t0003g0117 others(11): Show a0002c0001t0002g0185 a0002c0001t0047g0221 a0003c0003t0003g0117 a0007c0010t0001g0078 a0007c0010t0001g0091 a0007c0010t0001g0092 a0007c0010t0001g0249 a0007c0010t0001g0250 a0007c0010t0001g0252 a0007c0010t0056g0254 a0007c0010t0066g0251 a0013c0025t0005g0089 a0013c0025t0005g0212 a0039c0061t0002g0255	14	314	0.0446	-17	c.416 others(36): Show c.4162-9177_4162-9161delACACACACACACATCAT	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36			chr15	TogoVar
AKAP13_chr15_85375603_85754355	85644589	CCTGTAAT others(10): Show CCTGTAATCCCAGCACTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0172 a0001c0004t0001g0172	1	314	0.0032	-17	c.423 others(36): Show c.4238-1228_4238-1212delCTGTAATCCCAGCACTT	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	9/36			chr15	TogoVar
AKAP13_chr15_85375603_85754355	85650755	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0015 a0015	a0015c0054 a0015c0054	a0015c0054t0004 a0015c0054t0004	a0015c0054t0004g0050 a0015c0054t0004g0050	1	314	0.0032	-17	c.437 others(36): Show c.4375-4643_4375-4627delAAAAAAAAAAAAAAAAA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	10/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85660352	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp1 HG01175.hp1 others(7): Show HG00323.hp1 HG00741.hp1 HG01175.hp1 HG01346.hp1 HG01516.hp1 HG01993.hp2 NA18963.hp1 NA18973.hp2 NA19054.hp2 NA19064.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0002 a0003c0003 a0010c0014 a0001c0002 a0003c0003 a0010c0014	a0001c0002t0008 a0001c0002t0061 a0003c0003t0030 others(3): Show a0001c0002t0008 a0001c0002t0061 a0003c0003t0030 a0003c0003t0051 a0010c0014t0018 a0010c0014t0059	a0001c0002t0008g0244 a0001c0002t0061g0141 a0003c0003t0030g0138 others(7): Show a0001c0002t0008g0244 a0001c0002t0061g0141 a0003c0003t0030g0138 a0003c0003t0030g0139 a0003c0003t0051g0035 a0010c0014t0018g0264 a0010c0014t0018g0299 a0010c0014t0018g0302 a0010c0014t0018g0303 a0010c0014t0059g0304	10	314	0.0319	-17	c.479 others(36): Show c.4799+1773_4799+1789delAAAAAAAAAAAAAAAAA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85706980	TAAAAGAG others(10): Show TAAAAGAGATGTTGGCCC	T T	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0023 a0001c0012t0023	a0001c0012t0023g0265 a0001c0012t0023g0265	1	314	0.0032	-17	c.546 others(36): Show c.5465-1021_5465-1005delAAAAGAGATGTTGGCCC	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	17/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP14_chrX_119890893_119925716	119894010	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	304	0.0033	-17	c.-21 others(28): Show c.-2100_-2084delAAAAAAAAAAAAAAAAG	AKAP14	ENSG00000186471.13	transcript	ENST00000371431.8	protein_coding		1882		chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1587683	TTCCCTTC others(10): Show TTCCCTTCCCCTCCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0002 a0012c0017t0002	a0012c0017t0002g0031 a0012c0017t0002g0031	1	151	0.0066	-17	c.-41 others(28): Show c.-4105_-4089delTCCCTTCCCCTCCCCTC	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		3920		chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1587836	CTCCCCTC others(10): Show CTCCCCTCCCCTCCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0003 a0009c0013t0003	a0009c0013t0003g0123 a0009c0013t0003g0123	1	151	0.0066	-17	c.-39 others(28): Show c.-3952_-3936delTCCCCTCCCCTCCCCCT	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		3767		chrX	TogoVar
AKAP6_chr14_32324298_32842684	32453575	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01109.hp2 HG01175.hp2 others(73): Show HG00099.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp1 HG01346.hp1 HG01884.hp2 HG01891.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03688.hp1 HG03831.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18954.hp2 NA18959.hp2 NA18983.hp2 NA18991.hp2 NA18995.hp2 NA19043.hp2 NA19056.hp1 NA19062.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0016 a0018 a0020 a0023 a0025 a0026	a0001c0001 a0001c0004 a0001c0006 others(31): Show a0001c0001 a0001c0004 a0001c0006 a0001c0019 a0002c0002 a0002c0009 a0002c0025 a0003c0003 a0003c0005 a0003c0017 a0003c0023 a0004c0007 a0004c0013 a0004c0018 a0004c0021 a0004c0024 a0004c0027 a0004c0040 a0005c0011 a0006c0008 a0006c0026 a0007c0015 a0008c0014 a0008c0055 a0009c0012 a0011c0016 a0012c0048 a0012c0052 a0016c0022 a0018c0033 a0020c0038 a0023c0041 a0025c0028 a0026c0029	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(57): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0020 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0004t0001 a0001c0004t0005 a0001c0004t0007 a0001c0004t0013 a0001c0006t0001 a0001c0006t0007 a0001c0006t0010 a0001c0006t0015 a0001c0006t0032 a0001c0019t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0041 a0002c0009t0001 a0002c0025t0004 a0003c0003t0002 a0003c0003t0005 a0003c0003t0045 a0003c0005t0002 a0003c0017t0002 a0003c0023t0005 a0004c0007t0006 a0004c0007t0010 a0004c0007t0018 a0004c0013t0014 a0004c0018t0004 a0004c0021t0004 a0004c0024t0031 a0004c0027t0004 a0004c0040t0051 a0005c0011t0005 a0005c0011t0009 a0006c0008t0004 a0006c0008t0012 a0006c0008t0016 a0006c0026t0016 a0007c0015t0008 a0007c0015t0018 a0007c0015t0035 a0008c0014t0027 a0008c0014t0028 a0008c0055t0006 a0009c0012t0039 a0009c0012t0040 a0011c0016t0002 a0012c0048t0034 a0012c0052t0012 a0016c0022t0013 a0018c0033t0019 a0020c0038t0006 a0023c0041t0008 a0025c0028t0033 a0026c0029t0029	a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0067 others(73): Show a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0067 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0006g0045 a0001c0001t0008g0129 a0001c0001t0020g0076 a0001c0001t0020g0130 a0001c0001t0046g0004 a0001c0001t0047g0034 a0001c0001t0049g0015 a0001c0004t0001g0098 a0001c0004t0001g0145 a0001c0004t0005g0121 a0001c0004t0007g0013 a0001c0004t0007g0020 a0001c0004t0007g0110 a0001c0004t0013g0116 a0001c0006t0001g0057 a0001c0006t0007g0099 a0001c0006t0010g0144 a0001c0006t0015g0135 a0001c0006t0032g0119 a0001c0019t0001g0002 a0002c0002t0001g0001 a0002c0002t0001g0102 a0002c0002t0003g0074 a0002c0002t0003g0082 a0002c0002t0003g0086 a0002c0002t0041g0019 a0002c0009t0001g0008 a0002c0025t0004g0115 a0003c0003t0002g0037 a0003c0003t0002g0096 a0003c0003t0005g0109 a0003c0003t0045g0107 a0003c0005t0002g0053 a0003c0017t0002g0023 a0003c0017t0002g0073 a0003c0023t0005g0014 a0004c0007t0006g0101 a0004c0007t0010g0132 a0004c0007t0010g0133 a0004c0007t0018g0042 a0004c0013t0014g0055 a0004c0018t0004g0040 a0004c0018t0004g0065 a0004c0021t0004g0131 a0004c0024t0031g0113 a0004c0027t0004g0108 a0004c0040t0051g0120 a0005c0011t0005g0005 a0005c0011t0009g0153 a0006c0008t0004g0114 a0006c0008t0004g0117 a0006c0008t0012g0090 a0006c0008t0016g0043 a0006c0026t0016g0111 a0007c0015t0008g0127 a0007c0015t0018g0089 a0007c0015t0035g0033 a0008c0014t0027g0054 a0008c0014t0028g0021 a0008c0055t0006g0105 a0009c0012t0039g0136 a0009c0012t0040g0104 a0011c0016t0002g0088 a0012c0048t0034g0118 a0012c0052t0012g0141 a0016c0022t0013g0044 a0018c0033t0019g0147 a0020c0038t0006g0048 a0023c0041t0008g0047 a0025c0028t0033g0148 a0026c0029t0029g0060	76	154	0.4935	-17	c.324 others(36): Show c.324+19781_324+19797delTTTTTTTTTTTTTTTTT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP7_chr6_131130467_131288532	131161644	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01884.hp2 HG03098.hp2 others(13): Show HG00597.hp1 HG01884.hp2 HG03098.hp2 HG03516.hp2 HG03579.hp2 NA18906.hp1 NA18942.hp1 NA18943.hp2 NA18953.hp1 NA18965.hp1 NA18986.hp1 NA19002.hp2 NA19004.hp1 NA19080.hp2 NA19084.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0002c0002t0001	a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 others(13): Show a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0186 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0005g0140 a0001c0001t0006g0295 a0001c0001t0006g0296 a0001c0001t0007g0281 a0001c0001t0007g0282 a0001c0001t0009g0141 a0001c0001t0009g0184 a0002c0002t0001g0093	16	304	0.0526	-17	c.291 others(34): Show c.291+1470_291+1486delAAAAAAAAAAAAAAAAA	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP9_chr7_91935862_92115673	91998418	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	306	0.0033	-17	c.931 others(34): Show c.931-2409_931-2393delTTTTTTTTTTTTTTTTT	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	7/49		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92012973	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02523.hp2 HG02074.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0170 a0001c0001t0001g0029 a0001c0001t0001g0170	2	306	0.0065	-17	c.353 others(34): Show c.3532+351_3532+367delTTTTTTTTTTTTTTTTT	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	9/49		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKIRIN1_chr1_38986276_39011059	38994672	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	426	0.0024	-17	c.220 others(34): Show c.220+3090_220+3106delTTTTTTTTTTTTTTTTT	AKIRIN1	ENSG00000174574.16	transcript	ENST00000432648.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AKR1C3_chr10_5089414_5112686	5103027	TTACAGGT others(10): Show TTACAGGTGCCTACCACC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01891.hp1 HG02055.hp2 others(9): Show HG01255.hp2 HG01891.hp1 HG02055.hp2 HG02280.hp1 HG02559.hp2 HG02572.hp1 HG02965.hp1 HG03098.hp2 HG03209.hp2 HG03453.hp2 NA19030.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0001 a0002c0002t0001 a0002c0006t0001 a0001c0001t0001 a0002c0002t0001 a0002c0006t0001	a0001c0001t0001g0041 a0002c0002t0001g0046 a0002c0002t0001g0116 others(3): Show a0001c0001t0001g0041 a0002c0002t0001g0046 a0002c0002t0001g0116 a0002c0006t0001g0012 a0002c0006t0001g0117 a0002c0006t0001g0118	12	438	0.0274	-17	c.846 others(32): Show c.846+378_846+394delTACAGGTGCCTACCACC	AKR1C3	ENSG00000196139.14	transcript	ENST00000380554.5	protein_coding	7/8			chr10	TogoVar
AKR1D1_chr7_138071459_138123305	138081506	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0027 a0001c0001t0006g0027	2	426	0.0047	-17	c.93+ others(32): Show c.93+4915_93+4931delTTTTTTTTTTTTTTTTT	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKT1_chr14_104764349_104800748	104776063	CCCCCCAG others(10): Show CCCCCCAGCAGGACTCCG	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	386	0.0026	-17	c.288 others(32): Show c.288-281_288-265delCGGAGTCCTGCTGGGGG	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	5/14			chr14	TogoVar
AKT1_chr14_104764349_104800748	104777220	CCACCTGG others(10): Show CCACCTGGAGCACACCCA	C C	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	386	0.0026	-17	c.176 others(32): Show c.176-467_176-451delTGGGTGTGCTCCAGGTG	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	4/14			chr14	TogoVar
AKT1_chr14_104764349_104800748	104777228	AGCACACC others(10): Show AGCACACCCACACCTGGG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp1 HG02630.hp1 others(2): Show HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0111 a0001c0001t0001g0112 others(1): Show a0001c0001t0001g0022 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0121	5	386	0.0130	-17	c.176 others(32): Show c.176-475_176-459delCCCAGGTGTGGGTGTGC	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	4/14			chr14	TogoVar

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Search Results (Total: 9132 hits)