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
AGO3_chr1_35926105_36077500	35929244	TGATATTA others(19): Show TGATATTACAAATCATGAGCCTTTCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	258	0.0039	-26	c.-21 others(37): Show c.-2182_-2157delGATATTACAAATCATGAGCCTTTCAC	AGO3	ENSG00000126070.20	transcript	ENST00000373191.9	protein_coding		1860		chr1	TogoVar
AGPAT3_chr21_43860223_43992592	43990964	TATATATA others(19): Show TATATATATATATATATATATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0187 a0001c0001t0080g0187	1	342	0.0029	-26	c.85 others(37): Show c.8573_*8598delATATATATATATATATATATATATAA	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding		3373		chr21	TogoVar
AGPAT4_chr6_161124967_161279061	161261549	TCAGAGGG others(19): Show TCAGAGGGACGTAGCTGCTACCCTGAG	T T	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0121 a0001c0001t0012g0121	1	264	0.0038	-26	c.-90 others(45): Show c.-90+12363_-90+12388delCTCAGGGTAGCAGCTACGTCCCTCTG	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	1/8			chr6	TogoVar
AGR2_chr7_16786811_16809999	16804249	GACACACA others(19): Show GACACACACAGACATAGGTACACACAC	G G	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18982.hp1 NA19054.hp2 others(2): Show NA18959.hp2 NA18982.hp1 NA19054.hp2 NA19055.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	5	460	0.0109	-26	c.-8+ others(39): Show c.-8+660_-8+685delGTGTGTGTACCTATGTCTGTGTGTGT	AGR2	ENSG00000106541.12	transcript	ENST00000419304.7	protein_coding	1/7			chr7	TogoVar
AGXT2_chr5_34993102_35052949	35028558	TGAGAGAG others(19): Show TGAGAGAGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01081.hp2 others(16): Show HG00099.hp2 HG00140.hp1 HG01081.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01256.hp1 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01934.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG03490.hp1 HG03688.hp1 HG03831.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0023 a0003c0006 others(2): Show a0001c0001 a0002c0023 a0003c0006 a0010c0010 a0010c0024	a0001c0001t0001 a0001c0001t0003 a0002c0023t0003 others(4): Show a0001c0001t0001 a0001c0001t0003 a0002c0023t0003 a0003c0006t0002 a0003c0006t0003 a0010c0010t0003 a0010c0024t0003	a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0166 others(14): Show a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0003g0121 a0002c0023t0003g0114 a0003c0006t0002g0158 a0003c0006t0002g0169 a0003c0006t0003g0160 a0003c0006t0003g0170 a0010c0010t0003g0007 a0010c0010t0003g0008 a0010c0010t0003g0151 a0010c0010t0003g0156 a0010c0010t0003g0164 a0010c0024t0003g0023	19	384	0.0495	-26	c.770 others(43): Show c.770-2074_770-2049delTCTCTCTCTCTCTCTCTCTCTCTCTC	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	7/13			chr5	TogoVar
AGXT2_chr5_34993102_35052949	35028595	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0004 a0002c0031t0004	a0002c0031t0004g0355 a0002c0031t0004g0355	1	384	0.0026	-26	c.770 others(43): Show c.770-2111_770-2086delTTCTCTCTCTCTCTCTCTCTCTCTCT	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	7/13			chr5	TogoVar
AHNAK2_chr14_104932253_104983374	104968309	TGCCTCCC others(19): Show TGCCTCCCCGAGAACTGGACTATCCTG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01255.hp2 HG02257.hp1 others(7): Show HG01099.hp2 HG01255.hp2 HG02257.hp1 HG02717.hp1 HG03041.hp2 HG03139.hp1 HG03516.hp2 NA18906.hp1 NA20129.hp1 NA20129.hp2	a0026 a0045 a0069 others(6): Show a0026 a0045 a0069 a0071 a0072 a0073 a0074 a0085 a0161	a0026c0042 a0045c0024 a0069c0184 others(6): Show a0026c0042 a0045c0024 a0069c0184 a0071c0177 a0072c0178 a0073c0171 a0074c0179 a0085c0172 a0161c0079	a0026c0042t0002 a0045c0024t0001 a0069c0184t0002 others(6): Show a0026c0042t0002 a0045c0024t0001 a0069c0184t0002 a0071c0177t0002 a0072c0178t0002 a0073c0171t0002 a0074c0179t0003 a0085c0172t0002 a0161c0079t0012	a0026c0042t0002g0295 a0045c0024t0001g0142 a0045c0024t0001g0143 others(7): Show a0026c0042t0002g0295 a0045c0024t0001g0142 a0045c0024t0001g0143 a0069c0184t0002g0209 a0071c0177t0002g0144 a0072c0178t0002g0298 a0073c0171t0002g0140 a0074c0179t0003g0297 a0085c0172t0002g0296 a0161c0079t0012g0141	10	356	0.0281	-26	c.55+ others(41): Show c.55+9848_55+9873delCAGGATAGTCCAGTTCTCGGGGAGGC	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	1/6			chr14	TogoVar
AIF1L_chr9_131091531_131128144	131123918	GTATGTGT others(19): Show GTATGTGTGTGTGTGTATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG02280.hp1 HG02559.hp1 others(4): Show HG01943.hp2 HG02280.hp1 HG02559.hp1 HG02896.hp1 HG02922.hp1 HG03453.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0187 a0001c0001t0002g0201 others(3): Show a0001c0001t0002g0038 a0001c0001t0002g0187 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205	7	424	0.0165	-26	c.35 others(37): Show c.3597_*3622delTATGTGTGTGTGTGTATATATATATA	AIF1L	ENSG00000126878.13	transcript	ENST00000247291.8	protein_coding		775		chr9	TogoVar
AIFM2_chr10_70107271_70137825	70133098	AAGAGAGA others(19): Show AAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00423.hp2 others(95): Show HG00140.hp2 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01169.hp2 HG01192.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01934.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02523.hp2 HG02683.hp1 HG02735.hp1 HG03239.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18990.hp2 NA18992.hp1 NA18997.hp1 NA18998.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19054.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19072.hp1 NA19072.hp2 NA19079.hp1 NA19080.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0010 a0001c0022 a0001c0023 a0002c0004 a0002c0007 a0003c0003 a0004c0008 a0006c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0042 a0001c0001t0047 a0001c0002t0003 a0001c0002t0007 a0001c0005t0001 a0001c0010t0001 a0001c0022t0001 a0001c0023t0007 a0002c0004t0001 a0002c0004t0009 a0002c0004t0058 a0002c0007t0003 a0003c0003t0004 a0004c0008t0004 a0006c0018t0007	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(69): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0188 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0002g0304 a0001c0001t0009g0086 a0001c0001t0009g0152 a0001c0001t0009g0218 a0001c0001t0042g0121 a0001c0001t0047g0114 a0001c0002t0003g0004 a0001c0002t0003g0091 a0001c0002t0003g0102 a0001c0002t0003g0139 a0001c0002t0003g0144 a0001c0002t0007g0131 a0001c0005t0001g0083 a0001c0005t0001g0134 a0001c0010t0001g0119 a0001c0022t0001g0133 a0001c0023t0007g0098 a0002c0004t0001g0022 a0002c0004t0001g0025 a0002c0004t0001g0026 a0002c0004t0001g0085 a0002c0004t0001g0089 a0002c0004t0001g0109 a0002c0004t0001g0111 a0002c0004t0001g0135 a0002c0004t0001g0142 a0002c0004t0009g0145 a0002c0004t0058g0376 a0002c0007t0003g0183 a0003c0003t0004g0113 a0003c0003t0004g0117 a0003c0003t0004g0126 a0003c0003t0004g0130 a0003c0003t0004g0143 a0003c0003t0004g0151 a0004c0008t0004g0105 a0004c0008t0004g0110 a0004c0008t0004g0137 a0006c0018t0007g0116	98	468	0.2094	-26	c.-40 others(35): Show c.-404_-379delCTCTCTCTCTCTCTCTCTCTCTCTCT	AIFM2	ENSG00000042286.15	transcript	ENST00000307864.3	protein_coding		274		chr10	TogoVar
AIG1_chr6_143055889_143346058	143143520	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG01891.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0143 a0001c0001t0005g0017 a0001c0001t0005g0143	2	204	0.0098	-26	c.297 others(43): Show c.297+6532_297+6557delAAAAAAAATATATATATATATATATA	AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
AIMP1_chr4_106311550_106354456	106350000	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG01069.hp2 others(15): Show HG00099.hp2 HG00280.hp1 HG01069.hp2 HG01099.hp2 HG01167.hp2 HG01192.hp2 HG01243.hp2 HG01884.hp1 HG02280.hp1 HG02280.hp2 HG02809.hp2 HG02886.hp1 HG02976.hp2 HG03209.hp2 HG03471.hp1 HG03516.hp2 HG03942.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 others(14): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0006t0001g0041 a0001c0006t0001g0182	18	384	0.0469	-26	c.23 others(37): Show c.2309_*2334delAAAAAAAAAAAAAAAAAAAAAAAAAA	AIMP1	ENSG00000164022.18	transcript	ENST00000672341.1	protein_coding		545		chr4	TogoVar
AK1_chr9_127861486_127882675	127866136	ACATGCGT others(19): Show ACATGCGTGTGTGTAAAAGTGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01070.hp1 HG01071.hp1 others(35): Show HG00323.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01192.hp1 HG01192.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG02258.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0026 a0001c0001t0003 a0001c0001t0011 a0001c0001t0026	a0001c0001t0003g0011 a0001c0001t0003g0015 a0001c0001t0003g0023 others(24): Show a0001c0001t0003g0011 a0001c0001t0003g0015 a0001c0001t0003g0023 a0001c0001t0003g0028 a0001c0001t0003g0035 a0001c0001t0003g0047 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0156 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0181 a0001c0001t0003g0184 a0001c0001t0003g0188 a0001c0001t0003g0225 a0001c0001t0003g0230 a0001c0001t0003g0232 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0266 a0001c0001t0011g0069 a0001c0001t0011g0159 a0001c0001t0011g0172 a0001c0001t0011g0189 a0001c0001t0026g0234	38	426	0.0892	-26	c.18 others(37): Show c.1846_*1871delCACACACACTTTTACACACACGCATG	AK1	ENSG00000106992.19	transcript	ENST00000644144.2	protein_coding		349		chr9	TogoVar
AK4_chr1_65143203_65237145	65152338	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0179 a0002c0003t0007g0179	1	300	0.0033	-26	c.145 others(43): Show c.145+3788_145+3813delCTCTCTCTCTCTCTCTCTCTCTATAT	AK4	ENSG00000162433.15	transcript	ENST00000327299.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77391487	GTGTGTGT others(19): Show GTGTGTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00438.hp1 others(67): Show HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG01070.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01169.hp2 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp1 HG01891.hp2 HG01928.hp1 HG02027.hp1 HG02071.hp2 HG02132.hp1 HG02145.hp1 HG02165.hp2 HG02280.hp2 HG02602.hp1 HG02895.hp2 HG02965.hp2 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03942.hp1 HG04204.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18947.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18992.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19060.hp2 NA19065.hp1 NA19067.hp2 NA19079.hp1 NA19091.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0019 a0001c0001t0023 a0001c0001t0028 a0001c0003t0001 a0001c0003t0004 a0001c0009t0004 a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0002t0010 a0002c0002t0013 a0002c0002t0027 a0002c0004t0012	a0001c0001t0001g0078 a0001c0001t0001g0092 a0001c0001t0001g0098 others(67): Show a0001c0001t0001g0078 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0111 a0001c0001t0001g0258 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0176 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0194 a0001c0001t0003g0229 a0001c0001t0003g0284 a0001c0001t0004g0024 a0001c0001t0005g0231 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0193 a0001c0001t0006g0227 a0001c0001t0006g0228 a0001c0001t0019g0158 a0001c0001t0023g0219 a0001c0001t0028g0185 a0001c0003t0001g0250 a0001c0003t0004g0236 a0001c0009t0004g0091 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0196 a0002c0002t0002g0265 a0002c0002t0002g0279 a0002c0002t0005g0151 a0002c0002t0005g0162 a0002c0002t0005g0163 a0002c0002t0005g0172 a0002c0002t0005g0177 a0002c0002t0005g0186 a0002c0002t0005g0192 a0002c0002t0008g0278 a0002c0002t0010g0105 a0002c0002t0013g0197 a0002c0002t0027g0175 a0002c0004t0012g0131	70	284	0.2465	-26	c.892 others(45): Show c.892-19492_892-19467delGTGTGTGTATATATATATATATATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77470826	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01934.hp2 HG03139.hp2 HG01257.hp2 HG01934.hp2 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0006 a0002c0002t0002 a0001c0001t0004 a0001c0001t0006 a0002c0002t0002	a0001c0001t0004g0022 a0001c0001t0006g0193 a0002c0002t0002g0065 a0001c0001t0004g0022 a0001c0001t0006g0193 a0002c0002t0002g0065	3	284	0.0106	-26	c.106 others(47): Show c.1060-12466_1060-12441delATATATATATATATATATATATAT AT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK7_chr14_96387128_96494427	96415748	TAATTAAT others(19): Show TAATTAATTTAATACATTAATTAATTA	T T	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02818.hp2 HG03195.hp1 others(1): Show HG01952.hp2 HG02818.hp2 HG03195.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0035 a0002c0002t0001g0066 a0002c0002t0001g0161 others(1): Show a0001c0001t0001g0035 a0002c0002t0001g0066 a0002c0002t0001g0161 a0002c0002t0001g0162	4	316	0.0127	-26	c.499 others(43): Show c.499-5024_499-4999delTTAAATTAATTTAATACATTAATTAA	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP10_chr17_19899302_19982828	19946211	ATATATAT others(19): Show ATATATATATTTTATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0144 a0002c0002t0002g0144	1	278	0.0036	-26	c.976 others(43): Show c.976+1170_976+1195delATATATATATATATAAAATATATATA	AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	5/14			chr17	TogoVar
AKAP11_chr13_42267152_42328261	42272587	GCGTGGTG others(19): Show GCGTGGTGCGCGTGCTTAGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0019 a0019	a0019c0017 a0019c0017	a0019c0017t0041 a0019c0017t0041	a0019c0017t0041g0196 a0019c0017t0041g0196	1	378	0.0027	-26	c.-10 others(43): Show c.-100+367_-100+392delCGCGTGCTTAGTGTGTGTTCGTGGTG	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
AKAP12_chr6_151234967_151363559	151247497	CTGAGGTA others(19): Show CTGAGGTAGAGCAGTCTTACTCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03704.hp2 NA18942.hp1 others(8): Show HG03688.hp2 HG03704.hp2 NA18942.hp1 NA18948.hp2 NA18951.hp1 NA18975.hp2 NA19005.hp1 NA19060.hp1 NA19063.hp2 NA19083.hp1 NA19090.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0035	a0001c0002 a0001c0012 a0002c0001 others(2): Show a0001c0002 a0001c0012 a0002c0001 a0003c0008 a0035c0060	a0001c0002t0001 a0001c0002t0020 a0001c0012t0001 others(3): Show a0001c0002t0001 a0001c0002t0020 a0001c0012t0001 a0002c0001t0002 a0003c0008t0003 a0035c0060t0001	a0001c0002t0001g0130 a0001c0002t0001g0138 a0001c0002t0020g0129 others(8): Show a0001c0002t0001g0130 a0001c0002t0001g0138 a0001c0002t0020g0129 a0001c0012t0001g0139 a0002c0001t0002g0133 a0002c0001t0002g0134 a0002c0001t0002g0135 a0002c0001t0002g0136 a0002c0001t0002g0137 a0003c0008t0003g0131 a0035c0060t0001g0132	11	316	0.0348	-26	c.162 others(43): Show c.162+6776_162+6801delAGGTAGAGCAGTCTTACTCTCCTTTG	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP12_chr6_151234967_151363559	151272435	ATACTCCC others(19): Show ATACTCCCTTTGCCTTTCTGTTTTTCG	A A	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18989.hp1 NA19063.hp1 NA18979.hp1 NA18989.hp1 NA19063.hp1	a0001 a0001	a0001c0011 a0001c0055 a0001c0011 a0001c0055	a0001c0011t0001 a0001c0011t0033 a0001c0055t0001 a0001c0011t0001 a0001c0011t0033 a0001c0055t0001	a0001c0011t0001g0040 a0001c0011t0033g0080 a0001c0055t0001g0061 a0001c0011t0001g0040 a0001c0011t0033g0080 a0001c0055t0001g0061	3	316	0.0095	-26	c.162 others(45): Show c.162+31727_162+31752delTCTGTTTTTCGTACTCCCTTTGCCTT	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP12_chr6_151234967_151363559	151319502	CTAGATAT others(19): Show CTAGATATAGATATATCTCTATATAGA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG01175.hp2 others(6): Show HG00438.hp1 HG00673.hp1 HG01175.hp2 HG02155.hp1 HG02155.hp2 HG03579.hp1 HG04199.hp2 NA18960.hp1 NA19083.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0036	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0003c0004 a0036c0043	a0001c0002t0001 a0001c0002t0014 a0001c0003t0001 others(4): Show a0001c0002t0001 a0001c0002t0014 a0001c0003t0001 a0002c0001t0002 a0002c0001t0005 a0003c0004t0003 a0036c0043t0009	a0001c0002t0001g0163 a0001c0002t0001g0285 a0001c0002t0014g0276 others(6): Show a0001c0002t0001g0163 a0001c0002t0001g0285 a0001c0002t0014g0276 a0001c0003t0001g0220 a0002c0001t0002g0134 a0002c0001t0002g0191 a0002c0001t0005g0203 a0003c0004t0003g0103 a0036c0043t0009g0085	9	316	0.0285	-26	c.319 others(45): Show c.319+13602_319+13627delGATATAGATATATCTCTATATAGATA	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP17A_chrX_1586604_1607520	1587933	TCCCCCCT others(19): Show TCCCCCCTTCCCCTGCCCTCTCCTCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG03195.hp1 HG02559.hp1 HG03195.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0070 a0002c0003t0004g0071 a0002c0003t0004g0070 a0002c0003t0004g0071	2	151	0.0133	-26	c.-38 others(37): Show c.-3855_-3830delCCCCCCTTCCCCTGCCCTCTCCTCCC	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		3670		chrX	TogoVar
AKAP6_chr14_32324298_32842684	32352077	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02145.hp2 HG02165.hp1 others(12): Show HG01993.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02572.hp1 HG02647.hp2 HG02897.hp2 HG03130.hp2 HG03225.hp1 HG03486.hp2 HG03704.hp2 NA18522.hp1 NA18947.hp1 NA18952.hp1 NA18991.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0013	a0001c0001 a0001c0004 a0002c0009 others(8): Show a0001c0001 a0001c0004 a0002c0009 a0003c0003 a0004c0007 a0004c0018 a0004c0027 a0005c0050 a0006c0008 a0009c0012 a0013c0054	a0001c0001t0001 a0001c0001t0038 a0001c0001t0047 others(12): Show a0001c0001t0001 a0001c0001t0038 a0001c0001t0047 a0001c0004t0007 a0002c0009t0003 a0002c0009t0011 a0003c0003t0002 a0003c0003t0005 a0004c0007t0018 a0004c0018t0004 a0004c0027t0004 a0005c0050t0007 a0006c0008t0016 a0009c0012t0040 a0013c0054t0006	a0001c0001t0001g0039 a0001c0001t0038g0038 a0001c0001t0047g0034 others(12): Show a0001c0001t0001g0039 a0001c0001t0038g0038 a0001c0001t0047g0034 a0001c0004t0007g0110 a0002c0009t0003g0036 a0002c0009t0011g0103 a0003c0003t0002g0035 a0003c0003t0005g0109 a0004c0007t0018g0042 a0004c0018t0004g0040 a0004c0027t0004g0108 a0005c0050t0007g0150 a0006c0008t0016g0043 a0009c0012t0040g0104 a0013c0054t0006g0106	15	154	0.0974	-26	c.-35 others(45): Show c.-35+22695_-35+22720delTTGTGTGTGTGTGTGTGTGTGTGTGT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32398787	TCTCTCTC others(19): Show TCTCTCTCTCTCTCTCTCCCCCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02165.hp2 NA18942.hp2 others(3): Show HG02132.hp2 HG02165.hp2 NA18942.hp2 NA18947.hp2 NA18952.hp2 NA18991.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0049 a0002c0002t0003 a0001c0001t0001 a0001c0001t0049 a0002c0002t0003	a0001c0001t0001g0067 a0001c0001t0001g0087 a0001c0001t0001g0134 others(3): Show a0001c0001t0001g0067 a0001c0001t0001g0087 a0001c0001t0001g0134 a0001c0001t0049g0015 a0002c0002t0003g0082 a0002c0002t0003g0086	6	154	0.0390	-26	c.-34 others(45): Show c.-34-34665_-34-34640delTCTCTCTCTCCCCCTCCCCCTCTCTC	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32510438	GTATATAT others(19): Show GTATATATATATACATATATATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02486.hp2 HG01256.hp2 HG02486.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0017 a0001c0001 a0003c0017	a0001c0001t0001 a0003c0017t0002 a0001c0001t0001 a0003c0017t0002	a0001c0001t0001g0125 a0003c0017t0002g0023 a0001c0001t0001g0125 a0003c0017t0002g0023	2	154	0.0130	-26	c.325 others(45): Show c.325-25094_325-25069delGTGTATATATATATATACATATATAT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP7_chr6_131130467_131288532	131247269	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp1 HG02818.hp2 others(4): Show HG02559.hp1 HG02647.hp1 HG02818.hp2 HG02970.hp1 HG03225.hp1 HG03540.hp2 HG06807.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0010 a0003c0003t0008 a0003c0003t0010	a0003c0003t0008g0143 a0003c0003t0008g0144 a0003c0003t0008g0145 others(4): Show a0003c0003t0008g0143 a0003c0003t0008g0144 a0003c0003t0008g0145 a0003c0003t0008g0146 a0003c0003t0008g0147 a0003c0003t0008g0148 a0003c0003t0010g0082	7	304	0.0230	-26	c.850 others(45): Show c.850+27481_850+27506delATATATATATATATATATATATATAT	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKR1B10_chr7_134522567_134546412	134541824	CGGCATTT others(19): Show CGGCATTTTCTTGGGAAGTAGAGGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	448	0.0022	-26	c.73 others(35): Show c.736_*761delGGCATTTTCTTGGGAAGTAGAGGTGT	AKR1B10	ENSG00000198074.10	transcript	ENST00000359579.5	protein_coding		413		chr7	TogoVar
AKT3_chr1_243494724_243855243	243527912	CACACACA others(19): Show CACACACACACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0241 a0001c0001t0038g0241	1	301	0.0033	-26	c.125 others(47): Show c.1252-15512_1252-15487delCTGTGTGTGTGTGTGTGTGTGTGT GT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243527914	CACACACA others(19): Show CACACACACACACACACACACACAGAG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	301	0.0033	-26	c.125 others(47): Show c.1252-15514_1252-15489delCTCTGTGTGTGTGTGTGTGTGTGT GT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243693242	TGATATAT others(19): Show TGATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01361.hp1 HG01496.hp1 others(3): Show HG01257.hp2 HG01361.hp1 HG01496.hp1 NA19060.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0039 a0001c0001t0001 a0001c0001t0011 a0001c0001t0039	a0001c0001t0001g0234 a0001c0001t0001g0261 a0001c0001t0001g0263 others(3): Show a0001c0001t0001g0234 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0011g0236 a0001c0001t0039g0270	6	301	0.0199	-26	c.172 others(43): Show c.172+2323_172+2348delTATATATATATATATATATATATATC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKTIP_chr16_53486040_53508209	53505165	CAGTCAAC others(19): Show CAGTCAACGGCAAGTGGAAGGAGTCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	386	0.0026	-26	c.-21 others(37): Show c.-2115_-2090delCGGACTCCTTCCACTTGCCGTTGACT	AKTIP	ENSG00000166971.17	transcript	ENST00000394657.12	protein_coding		1957		chr16	TogoVar
ALDH1L2_chr12_105014790_105089458	105036541	TATATATA others(19): Show TATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01192.hp2 HG02083.hp1 others(16): Show HG00423.hp2 HG01192.hp2 HG02083.hp1 HG03669.hp1 HG03942.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18953.hp2 NA18969.hp1 NA18974.hp2 NA18975.hp1 NA18981.hp2 NA19003.hp2 NA19030.hp1 NA19074.hp2 NA19083.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0006 a0001c0003t0006 a0001c0001t0003 a0001c0001t0006 a0001c0003t0006	a0001c0001t0003g0093 a0001c0001t0003g0133 a0001c0001t0003g0138 others(16): Show a0001c0001t0003g0093 a0001c0001t0003g0133 a0001c0001t0003g0138 a0001c0001t0006g0031 a0001c0001t0006g0150 a0001c0001t0006g0175 a0001c0001t0006g0217 a0001c0001t0006g0334 a0001c0001t0006g0335 a0001c0001t0006g0342 a0001c0001t0006g0354 a0001c0001t0006g0372 a0001c0001t0006g0375 a0001c0003t0006g0376 a0001c0003t0006g0377 a0001c0003t0006g0378 a0001c0003t0006g0380 a0001c0003t0006g0382 a0001c0003t0006g0384	19	386	0.0492	-26	c.214 others(45): Show c.2145+1536_2145+1561delTTATATATATATATATATATATATAT	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105046171	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA20905.hp1 HG00741.hp1 NA20905.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0094 a0001c0013t0002g0140 a0001c0013t0002g0094 a0001c0013t0002g0140	2	386	0.0052	-26	c.186 others(43): Show c.1863+513_1863+538delTATAGAGAGAGAGAGAGAGAGAGAGA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105046173	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTATATA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0183 a0001c0002t0002g0183	1	386	0.0026	-26	c.186 others(43): Show c.1863+511_1863+536delTATATAGAGAGAGAGAGAGAGAGAGA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105046175	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19077.hp1 NA18961.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0187 a0001c0002t0002g0201 a0001c0002t0002g0187 a0001c0002t0002g0201	2	386	0.0052	-26	c.186 others(43): Show c.1863+509_1863+534delTATATATAGAGAGAGAGAGAGAGAGA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105046177	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG04228.hp2 NA18982.hp2 HG03831.hp1 HG04228.hp2 NA18982.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0037 a0001c0002t0002 a0001c0002t0037	a0001c0002t0002g0151 a0001c0002t0002g0202 a0001c0002t0037g0190 a0001c0002t0002g0151 a0001c0002t0002g0202 a0001c0002t0037g0190	3	386	0.0078	-26	c.186 others(43): Show c.1863+507_1863+532delTATATATATAGAGAGAGAGAGAGAGA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH6A1_chr14_74051847_74089453	74058340	ACAACAAC others(19): Show ACAACAACAAAAAAAATCACTACCAGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02572.hp1 HG02647.hp1 others(7): Show HG02145.hp1 HG02572.hp1 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG03041.hp1 HG03130.hp2 HG04184.hp2 HG06807.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0025 a0001c0001t0045 a0001c0001t0046 others(3): Show a0001c0001t0025 a0001c0001t0045 a0001c0001t0046 a0001c0001t0048 a0001c0002t0023 a0001c0010t0044	a0001c0001t0025g0149 a0001c0001t0025g0150 a0001c0001t0025g0151 others(7): Show a0001c0001t0025g0149 a0001c0001t0025g0150 a0001c0001t0025g0151 a0001c0001t0045g0147 a0001c0001t0046g0146 a0001c0001t0048g0148 a0001c0002t0023g0144 a0001c0002t0023g0152 a0001c0002t0023g0153 a0001c0010t0044g0145	10	402	0.0249	-26	c.22 others(37): Show c.2276_*2301delACTGGTAGTGATTTTTTTTGTTGTTG	ALDH6A1	ENSG00000119711.13	transcript	ENST00000553458.6	protein_coding	12/12	2276		chr14	TogoVar
ALDH8A1_chr6_134912393_134955101	134946762	ACACAGGT others(19): Show ACACAGGTGCGCATGTGTGCGCGCGCG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA19030.hp2 HG02602.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0175 a0001c0001t0001g0138 a0001c0001t0001g0175	2	370	0.0054	-26	c.139 others(43): Show c.139-2822_139-2797delCGCGCGCGCACACATGCGCACCTGTG	ALDH8A1	ENSG00000118514.14	transcript	ENST00000265605.7	protein_coding	1/6			chr6	TogoVar
ALDH8A1_chr6_134912393_134955101	134946786	GCGCACAG others(19): Show GCGCACAGGTGCGCATGTGTGCGTGCA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0193 a0001c0004t0004g0193	1	370	0.0027	-26	c.139 others(43): Show c.139-2846_139-2821delTGCACGCACACATGCGCACCTGTGCG	ALDH8A1	ENSG00000118514.14	transcript	ENST00000265605.7	protein_coding	1/6			chr6	TogoVar
ALG14_chr1_94969405_95077951	94996186	TTCTTTCT others(19): Show TTCTTTCTAAATCAGAATCCCTGGGTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03225.hp2 HG00741.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0241 a0001c0001t0047g0242 a0001c0001t0047g0241 a0001c0001t0047g0242	2	388	0.0052	-26	c.421 others(45): Show c.421-12906_421-12881delGACCCAGGGATTCTGATTTAGAAAGA	ALG14	ENSG00000172339.10	transcript	ENST00000370205.6	protein_coding	3/3			chr1	TogoVar
ALG6_chr1_63362627_63443553	63400243	ACGTATAT others(19): Show ACGTATATATATGTATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA20905.hp1 HG02165.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0001g0374 a0001c0001t0001g0375	2	388	0.0052	-26	c.168 others(43): Show c.168-2010_168-1985delCGTATATATATGTATATATATATACG	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	3/14			chr1	TogoVar
ALG6_chr1_63362627_63443553	63400244	CGTATATA others(19): Show CGTATATATATGTATATATATATACGT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02145.hp2 HG02615.hp2 others(4): Show HG01167.hp2 HG02145.hp2 HG02615.hp2 HG02647.hp2 HG02976.hp1 HG03225.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0196 a0001c0001t0004g0181 a0001c0001t0004g0182 others(4): Show a0001c0001t0003g0196 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0187	7	388	0.0180	-26	c.168 others(43): Show c.168-2009_168-1984delGTATATATATGTATATATATATACGT	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	3/14			chr1	TogoVar
ALK_chr2_29187774_29926586	29247144	ACCCCGGC others(19): Show ACCCCGGCCTCCGCGGCAGCGCCTTTC	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0018 a0001c0009t0005g0018	1	80	0.0125	-26	c.220 others(45): Show c.2204+3935_2204+3960delGAAAGGCGCTGCCGCGGAGGCCGGGG	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	12/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29706975	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0001 a0002c0028t0001	a0002c0028t0001g0014 a0002c0028t0001g0014	1	80	0.0125	-26	c.787 others(45): Show c.787+10577_787+10602delCACACACACACACACACACACACACA	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	2/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29830713	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0001 a0002c0018t0001	a0002c0018t0001g0008 a0002c0018t0001g0008	1	80	0.0125	-26	c.667 others(45): Show c.667+89254_667+89279delTTTTTTTTTTTTTTTTTTTTTTTTTT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29889687	TAGATAGA others(19): Show TAGATAGACAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp2 HG02004.hp2 others(6): Show HG00738.hp1 HG01074.hp2 HG02004.hp2 HG02258.hp1 HG02486.hp1 HG02970.hp2 HG03195.hp2 HG03209.hp1 NA18906.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0001c0006 a0001c0038 others(6): Show a0001c0004 a0001c0006 a0001c0038 a0001c0040 a0002c0001 a0002c0011 a0002c0030 a0002c0049 a0003c0003	a0001c0004t0001 a0001c0006t0001 a0001c0038t0001 others(6): Show a0001c0004t0001 a0001c0006t0001 a0001c0038t0001 a0001c0040t0001 a0002c0001t0001 a0002c0011t0001 a0002c0030t0001 a0002c0049t0001 a0003c0003t0002	a0001c0004t0001g0021 a0001c0006t0001g0036 a0001c0038t0001g0035 others(6): Show a0001c0004t0001g0021 a0001c0006t0001g0036 a0001c0038t0001g0035 a0001c0040t0001g0022 a0002c0001t0001g0062 a0002c0011t0001g0042 a0002c0030t0001g0060 a0002c0049t0001g0072 a0003c0003t0002g0059	9	80	0.1125	-26	c.667 others(45): Show c.667+30280_667+30305delCTCTCTCTCTCTCTCTCTGTCTATCT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29889695	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0010 a0001c0023t0010	a0001c0023t0010g0076 a0001c0023t0010g0076	1	80	0.0125	-26	c.667 others(45): Show c.667+30272_667+30297delCTCTCTCTCTCTCTCTCTCTCTCTCT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALLC_chr2_3653200_3707671	3671986	TTTAGATC others(19): Show TTTAGATCCGAGGTCCTCTGGCTCTAG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00733.hp2 others(29): Show HG00280.hp1 HG00544.hp1 HG00733.hp2 HG01346.hp1 HG01358.hp1 HG01934.hp1 HG02071.hp1 HG02083.hp1 HG02148.hp2 HG02155.hp2 HG02293.hp1 HG03540.hp1 HG03688.hp1 HG03704.hp1 HG04199.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18961.hp1 NA18965.hp2 NA18979.hp1 NA18983.hp2 NA18989.hp2 NA18999.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19083.hp2 NA19084.hp1 NA19088.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0012 a0002c0002 others(2): Show a0001c0001 a0001c0012 a0002c0002 a0002c0005 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0012t0002 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0012t0002 a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0003c0003t0001 a0003c0003t0002	a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0248 others(25): Show a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0248 a0001c0001t0002g0158 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0012t0002g0244 a0002c0002t0001g0230 a0002c0002t0002g0001 a0002c0002t0002g0011 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0174 a0002c0002t0002g0208 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0225 a0002c0002t0002g0245 a0002c0002t0002g0247 a0002c0005t0001g0234 a0003c0003t0001g0228 a0003c0003t0001g0229 a0003c0003t0002g0221	32	274	0.1168	-26	c.33+ others(39): Show c.33+828_33+853delTCCGAGGTCCTCTGGCTCTAGTTAGA	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3672617	AGGAGGTC others(19): Show AGGAGGTCCTCTGGCTCTGGTTAGATG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG01123.hp1 others(33): Show HG00639.hp1 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01258.hp2 HG01515.hp2 HG02004.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03139.hp2 HG03471.hp1 HG03492.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG04228.hp1 NA18906.hp2 NA18960.hp2 NA18983.hp1 NA19043.hp2 NA19070.hp2 NA19074.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0002c0002 a0002c0005 others(5): Show a0001c0001 a0002c0002 a0002c0005 a0002c0013 a0003c0003 a0004c0004 a0005c0007 a0006c0006	a0001c0001t0002 a0002c0002t0002 a0002c0005t0002 others(5): Show a0001c0001t0002 a0002c0002t0002 a0002c0005t0002 a0002c0013t0002 a0003c0003t0002 a0004c0004t0002 a0005c0007t0004 a0006c0006t0002	a0001c0001t0002g0118 a0001c0001t0002g0143 a0002c0002t0002g0054 others(33): Show a0001c0001t0002g0118 a0001c0001t0002g0143 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0057 a0002c0002t0002g0119 a0002c0002t0002g0137 a0002c0002t0002g0144 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0155 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0172 a0002c0002t0002g0212 a0002c0002t0002g0222 a0002c0005t0002g0012 a0002c0005t0002g0041 a0002c0013t0002g0030 a0003c0003t0002g0016 a0003c0003t0002g0020 a0003c0003t0002g0021 a0003c0003t0002g0027 a0003c0003t0002g0029 a0003c0003t0002g0042 a0003c0003t0002g0156 a0003c0003t0002g0167 a0003c0003t0002g0176 a0003c0003t0002g0177 a0003c0003t0002g0179 a0003c0003t0002g0239 a0004c0004t0002g0125 a0005c0007t0004g0253 a0005c0007t0004g0254 a0006c0006t0002g0151	36	274	0.1314	-26	c.34- others(41): Show c.34-1406_34-1381delGGGAGGTCCTCTGGCTCTGGTTAGAT	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73395056	ATGTGTAT others(19): Show ATGTGTATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18956.hp2 NA18944.hp1 NA18956.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0029 a0003c0002t0001g0030 a0003c0002t0001g0029 a0003c0002t0001g0030	2	248	0.0081	-26	c.324 others(43): Show c.324+8866_324+8891delGTGTATATATATATATATATATTTTT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar

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