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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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
ADAM28_chr8_24289069_24364014	24356870	C C	CCTTTGGG others(30): Show CCTTTGGGAAGGCTTTTAGCTTTTTATAAAATAATGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0006 a0001c0001t0030g0006	1	348	0.0029	37	c.24 others(48): Show c.2467_*2503dupCTTTGGGAAGGCTTTTAGCTTTTTATAAAATAAT GAA	ADAM28	ENSG00000042980.14	transcript	ENST00000265769.9	protein_coding	23/23	2504	INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS14_chr10_70667506_70767441	70759132	T T	TTTTTTTT others(30): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01261.hp1 HG01884.hp1 others(2): Show HG01255.hp2 HG01261.hp1 HG01884.hp1 HG02109.hp1 HG02129.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0017 a0003c0016 a0004c0006 a0001c0017 a0003c0016 a0004c0006	a0001c0017t0004 a0003c0016t0012 a0004c0006t0004 others(1): Show a0001c0017t0004 a0003c0016t0012 a0004c0006t0004 a0004c0006t0029	a0001c0017t0004g0268 a0003c0016t0012g0007 a0004c0006t0004g0267 others(2): Show a0001c0017t0004g0268 a0003c0016t0012g0007 a0004c0006t0004g0267 a0004c0006t0004g0297 a0004c0006t0029g0070	5	354	0.0141	37	c.317 others(54): Show c.3178+848_3178+849insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCT	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS19_chr5_129455298_129743683	129645885	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	226	0.0044	37	c.187 others(56): Show c.1873-1859_1873-1858insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129658350	A A	AAAGAAAG others(30): Show AAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0078 a0002c0002t0002g0078	1	226	0.0044	37	c.230 others(54): Show c.2305-259_2305-258insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAAGAAAGA	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	306	0.0033	37	c.161 others(56): Show c.1614+1906_1614+1907insAAAAATATATATATATATATATATAT ATATATATATA	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38			chr12	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18959.hp2 NA18970.hp1 HG02080.hp2 NA18959.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0077 a0001c0001t0001g0230 a0001c0001t0001g0232	3	306	0.0098	37	c.161 others(56): Show c.1614+1906_1614+1907insAAAAAAATATATATATATATATATAT ATATATATATA	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38			chr12	TogoVar
ADAMTS2_chr5_179105853_179350461	179217839	C C	CGGCACAC others(30): Show CGGCACACTCACTAGGTAGGGGATGGCCTGAGGGCAGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0122 a0001c0001t0004g0122	1	276	0.0036	37	c.689 others(56): Show c.689-10125_689-10124insTCTGCCCTCAGGCCATCCCCTACCTA GTGAGTGTGCC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72399726	G G	GTATATAC others(30): Show GTATATACACACACGGTGTGTACGCATATGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02647.hp2 HG02809.hp1 HG02055.hp1 HG02647.hp2 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0009 a0002c0002 a0002c0009	a0002c0002t0001 a0002c0009t0001 a0002c0002t0001 a0002c0009t0001	a0002c0002t0001g0087 a0002c0009t0001g0084 a0002c0009t0001g0085 a0002c0002t0001g0087 a0002c0009t0001g0084 a0002c0009t0001g0085	3	182	0.0165	37	c.661 others(56): Show c.661+15052_661+15088dupTATACACACATATGCGTACACACCGT GTGTGTATATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72400247	G G	GGTGTGTA others(30): Show GGTGTGTATATACGTGTGTATATATGCACACATGGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	182	0.0055	37	c.661 others(56): Show c.661+14531_661+14567dupACACCATGTGTGCATATATACACACG TATATACACAC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADAMTS9_chr3_64510654_64693000	64567676	T T	TAATCAGT others(30): Show TAATCAGTGTCTTGGGTACTCACACCCTTCTCCATCCC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0001 a0001c0045t0001	a0001c0045t0001g0068 a0001c0045t0001g0068	1	286	0.0035	37	c.452 others(54): Show c.4524+655_4524+691dupGGGATGGAGAAGGGTGTGAGTACCCAAG ACACTGATT	ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	29/39			chr3	TogoVar
ADAMTSL1_chr9_18469153_18915950	18688689	A A	AAAAAAAA others(30): Show AAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0004 a0002c0018t0004	a0002c0018t0004g0075 a0002c0018t0004g0075	1	218	0.0046	37	c.157 others(56): Show c.1574+3890_1574+3891insAAAAAAAAATATATATATATATATAT ATATATATATA	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18688689	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0002 a0003c0011t0002	a0003c0011t0002g0166 a0003c0011t0002g0166	1	218	0.0046	37	c.157 others(56): Show c.1574+3890_1574+3891insAAAAATATATATATATATATATATAT ATATATATATA	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGAGGA others(30): Show AGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	352	0.0028	37	c.51 others(48): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCT CCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADARB2_chr10_1172313_1742525	1409243	C C	CGGGCTCC others(30): Show CGGGCTCCCACCTTCGTCGCCCCGCCCTGCCTGACAGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02717.hp1 others(4): Show HG01884.hp1 HG02257.hp1 HG02717.hp1 HG02886.hp1 NA18998.hp1 NA19086.hp1 NA21309.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0007 a0010 a0011	a0001c0007 a0002c0002 a0004c0005 others(4): Show a0001c0007 a0002c0002 a0004c0005 a0006c0012 a0007c0011 a0010c0009 a0011c0008	a0001c0007t0066 a0002c0002t0038 a0004c0005t0037 others(4): Show a0001c0007t0066 a0002c0002t0038 a0004c0005t0037 a0006c0012t0007 a0007c0011t0034 a0010c0009t0024 a0011c0008t0016	a0001c0007t0066g0105 a0002c0002t0038g0048 a0004c0005t0037g0064 others(4): Show a0001c0007t0066g0105 a0002c0002t0038g0048 a0004c0005t0037g0064 a0006c0012t0007g0006 a0007c0011t0034g0076 a0010c0009t0024g0016 a0011c0008t0016g0003	7	106	0.0660	37	c.101 others(56): Show c.101-30084_101-30083insACTGTCAGGCAGGGCGGGGCGACGAA GGTGGGAGCCC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1653497	C C	CGTCTTGT others(30): Show CGTCTTGTGTGCCTGCAGAGCCGCAGTCTCCACCCGAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00639.hp1 others(17): Show HG00408.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG02027.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02965.hp2 HG03139.hp2 NA18945.hp1 NA18982.hp1 NA18984.hp1 NA18988.hp1 NA19070.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0009	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0003c0006 a0004c0005 a0007c0011 a0009c0010	a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 others(16): Show a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0054 a0001c0003t0001 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0026 a0002c0002t0027 a0002c0002t0041 a0002c0002t0044 a0002c0002t0064 a0002c0002t0065 a0003c0006t0067 a0004c0005t0037 a0007c0011t0034 a0009c0010t0006	a0001c0001t0010g0013 a0001c0001t0013g0007 a0001c0001t0015g0005 others(17): Show a0001c0001t0010g0013 a0001c0001t0013g0007 a0001c0001t0015g0005 a0001c0001t0017g0030 a0001c0001t0054g0083 a0001c0003t0001g0052 a0001c0003t0001g0070 a0002c0002t0004g0095 a0002c0002t0006g0011 a0002c0002t0007g0002 a0002c0002t0026g0032 a0002c0002t0027g0021 a0002c0002t0041g0074 a0002c0002t0044g0049 a0002c0002t0064g0100 a0002c0002t0065g0086 a0003c0006t0067g0080 a0004c0005t0037g0064 a0007c0011t0034g0076 a0009c0010t0006g0014	20	106	0.1887	37	c.100 others(56): Show c.100+83553_100+83554insATCGGGTGGAGACTGCGGCTCTGCAG GCACACAAGAC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1653502	T T	TGTGTGCC others(30): Show TGTGTGCCTGCAGAGCCGCAGTCTCCACCAGACGCCTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02145.hp1 others(14): Show HG01243.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02622.hp1 HG02622.hp2 HG02735.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03669.hp2 NA18522.hp2 NA20129.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0010c0009	a0001c0001t0001 a0001c0001t0011 a0001c0001t0022 others(14): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0022 a0001c0001t0023 a0001c0001t0031 a0001c0001t0036 a0001c0001t0050 a0001c0001t0051 a0001c0001t0061 a0001c0003t0009 a0001c0003t0032 a0002c0002t0002 a0002c0002t0004 a0002c0002t0021 a0002c0002t0053 a0002c0004t0047 a0010c0009t0024	a0001c0001t0001g0045 a0001c0001t0011g0026 a0001c0001t0022g0015 others(14): Show a0001c0001t0001g0045 a0001c0001t0011g0026 a0001c0001t0022g0015 a0001c0001t0023g0023 a0001c0001t0031g0059 a0001c0001t0036g0072 a0001c0001t0050g0077 a0001c0001t0051g0051 a0001c0001t0061g0087 a0001c0003t0009g0046 a0001c0003t0032g0071 a0002c0002t0002g0066 a0002c0002t0004g0096 a0002c0002t0021g0035 a0002c0002t0053g0106 a0002c0004t0047g0063 a0010c0009t0024g0016	17	106	0.1604	37	c.100 others(56): Show c.100+83512_100+83548dupGAGGCGTCTGGTGGAGACTGCGGCTC TGCAGGCACAC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1653508	C C	CCTGCAGA others(30): Show CCTGCAGAGCCGCAGTCTCCACCCGATGCCTTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02897.hp2 others(1): Show HG02109.hp2 HG02258.hp2 HG02897.hp2 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0040 a0002c0002t0005 a0001c0001t0001 a0001c0003t0040 a0002c0002t0005	a0001c0001t0001g0069 a0001c0003t0040g0073 a0002c0002t0005g0022 others(1): Show a0001c0001t0001g0069 a0001c0003t0040g0073 a0002c0002t0005g0022 a0002c0002t0005g0028	4	106	0.0377	37	c.100 others(56): Show c.100+83542_100+83543insACACACAAGGCATCGGGTGGAGACTG CGGCTCTGCAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1653532	G G	GACGCCTC others(30): Show GACGCCTCGTGTGCCTGCAGAGCCGCAGTATCCACCCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03540.hp1 HG02717.hp2 HG03540.hp1	a0001 a0008 a0001 a0008	a0001c0003 a0008c0013 a0001c0003 a0008c0013	a0001c0003t0039 a0008c0013t0020 a0001c0003t0039 a0008c0013t0020	a0001c0003t0039g0044 a0008c0013t0020g0037 a0001c0003t0039g0044 a0008c0013t0020g0037	2	106	0.0189	37	c.100 others(56): Show c.100+83518_100+83519insGGGGTGGATACTGCGGCTCTGCAGGC ACACGAGGCGT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADAT1_chr16_75591868_75628281	75624133	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0008 a0003c0003t0001g0008	1	348	0.0029	37	c.-17 others(48): Show c.-1753_-1752insATATATATATATATATATATATATATATATATAT ATA	ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding		853		chr16	TogoVar
ADAT1_chr16_75591868_75628281	75624133	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0014 a0001c0008t0014	a0001c0008t0014g0218 a0001c0008t0014g0219 a0001c0008t0014g0218 a0001c0008t0014g0219	2	348	0.0058	37	c.-17 others(48): Show c.-1753_-1752insAAATATATATATATATATATATATATATATATAT ATA	ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding		853		chr16	TogoVar
ADAT1_chr16_75591868_75628281	75624134	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0008 a0003c0003t0001g0008	1	348	0.0029	37	c.-17 others(48): Show c.-1754_-1753insTATATATATATATATATATATATATATATATATA TAT	ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding		854		chr16	TogoVar
ADCY10_chr1_167804386_167919134	167806457	C C	CGGGCAGA others(30): Show CGGGCAGAGGCGCTCCTCACCTCCCAGACGGGGCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02559.hp1 HG02572.hp1 others(8): Show HG02055.hp1 HG02559.hp1 HG02572.hp1 HG02818.hp1 HG02970.hp1 HG03098.hp2 HG03225.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 NA19240.hp2	a0001 a0002 a0011 others(1): Show a0001 a0002 a0011 a0013	a0001c0004 a0002c0001 a0002c0007 others(2): Show a0001c0004 a0002c0001 a0002c0007 a0011c0042 a0013c0030	a0001c0004t0002 a0002c0001t0002 a0002c0007t0002 others(2): Show a0001c0004t0002 a0002c0001t0002 a0002c0007t0002 a0011c0042t0002 a0013c0030t0002	a0001c0004t0002g0050 a0001c0004t0002g0208 a0001c0004t0002g0286 others(8): Show a0001c0004t0002g0050 a0001c0004t0002g0208 a0001c0004t0002g0286 a0002c0001t0002g0264 a0002c0001t0002g0267 a0002c0007t0002g0029 a0002c0007t0002g0199 a0002c0007t0002g0285 a0002c0007t0002g0291 a0011c0042t0002g0056 a0013c0030t0002g0290	11	326	0.0337	37	c.32 others(48): Show c.3220_*3221insAGCAGCCCCGTCTGGGAGGTGAGGAGCGCCTCTG CCC	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding		2928		chr1	TogoVar
ADCY10_chr1_167804386_167919134	167806483	G G	GACGGGGC others(30): Show GACGGGGCTGCTGGGCAGAGGCGCTCCTCACCTCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02559.hp2 HG02976.hp1 HG02280.hp1 HG02559.hp2 HG02976.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0022 a0002c0001t0002g0037 a0002c0001t0002g0039 a0002c0001t0002g0022 a0002c0001t0002g0037 a0002c0001t0002g0039	3	326	0.0092	37	c.31 others(48): Show c.3194_*3195insTTGGGAGGTGAGGAGCGCCTCTGCCCAGCAGCCC CGT	ADCY10	ENSG00000143199.18	transcript	ENST00000367851.9	protein_coding		2902		chr1	TogoVar
ADCY2_chr5_7391138_7835081	7501646	T T	TCCCACCC others(30): Show TCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0020	a0002c0003t0020g0132 a0002c0003t0020g0132	1	140	0.0071	37	c.409 others(56): Show c.409-19089_409-19088insACCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCC	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCY2_chr5_7391138_7835081	7673269	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0133 a0002c0003t0008g0133	1	140	0.0071	37	c.721 others(56): Show c.721-17422_721-17421insTATATATATATATATATATATATATA TATATATATAT	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	4/24			chr5	TogoVar
ADD1_chr4_2838844_2935062	2852189	T T	TCTTTCTT others(30): Show TCTTTCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0248 a0004c0006t0001g0248	1	320	0.0031	37	c.-21 others(54): Show c.-21+8174_-21+8175insTTCCTTTCTTCCTTTCTTCCTTTCTTTC CTTTCTTTC	ADD1	ENSG00000087274.19	transcript	ENST00000683351.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADD1_chr4_2838844_2935062	2852193	T T	TCCTTTCT others(30): Show TCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0238 a0001c0005t0001g0238	1	320	0.0031	37	c.-21 others(54): Show c.-21+8170_-21+8171insCTTTCTTTCCTTTCTTTCCTTTCTTTCC TTTCTTTCC	ADD1	ENSG00000087274.19	transcript	ENST00000683351.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADD3_chr10_110002984_110140565	110065539	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	288	0.0035	37	c.-29 others(56): Show c.-29-35068_-29-35067insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	ADD3	ENSG00000148700.15	transcript	ENST00000356080.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133091282	T T	TGGTGTGG others(30): Show TGGTGTGGCTGGTGCAGTGTGGTTGCCGTGGGATGGGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA19043.hp1 HG03453.hp2 NA19043.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0011 a0001c0010t0011	a0001c0010t0011g0049 a0001c0010t0011g0050 a0001c0010t0011g0049 a0001c0010t0011g0050	2	368	0.0054	37	c.3+2 others(50): Show c.3+2433_3+2469dupCGTGGGATGGGCGGTGTGGCTGGTGCAGTGTG GTTGC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRB3_chr6_68630282_69394506	69031552	T T	TCTTTCTT others(30): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02965.hp1 HG02486.hp1 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0108 a0002c0004t0001g0011 a0001c0001t0001g0108 a0002c0004t0001g0011	2	120	0.0167	37	c.210 others(58): Show c.2107+13053_2107+13054insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTC	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	13/31			chr6	TogoVar
ADGRE2_chr19_14727392_14783560	14749697	T T	TATAGTTA others(30): Show TATAGTTACATAATTATTTATAGCTATGTTATGTATTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18960.hp2 NA19060.hp1 HG00597.hp1 NA18960.hp2 NA19060.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0011 a0003c0003t0005 a0003c0003t0011	a0003c0003t0005g0140 a0003c0003t0005g0209 a0003c0003t0011g0080 a0003c0003t0005g0140 a0003c0003t0005g0209 a0003c0003t0011g0080	3	218	0.0138	37	c.202 others(56): Show c.2024+1738_2024+1739insGAATACATAACATAGCTATAAATAAT TATGTAACTAT	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	16/20			chr19	TogoVar
ADGRE2_chr19_14727392_14783560	14749754	T T	TTTATAGC others(30): Show TTTATAGCTATGTTATGTAATTATTTATAGTTACATAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01123.hp2 HG00738.hp1 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0182 a0001c0001t0001g0183	2	218	0.0092	37	c.202 others(56): Show c.2024+1681_2024+1682insTTATGTAACTATAAATAATTACATAA CATAGCTATAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	16/20			chr19	TogoVar
ADGRE2_chr19_14727392_14783560	14749795	T T	TTTATAGC others(30): Show TTTATAGCTATGTTATGTAATTATTTATAGTTACATAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00639.hp2 others(75): Show HG00099.hp1 HG00544.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp1 HG01243.hp1 HG01361.hp2 HG01496.hp1 HG01943.hp1 HG01978.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02293.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG04199.hp1 HG06807.hp2 NA18747.hp2 NA18944.hp2 NA18945.hp1 NA18950.hp1 NA18960.hp1 NA18963.hp2 NA18971.hp1 NA18986.hp1 NA18990.hp2 NA19000.hp1 NA19010.hp2 NA19060.hp2 NA19074.hp1 NA19083.hp1 NA19083.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0007 others(6): Show a0001 a0002 a0007 a0009 a0012 a0019 a0021 a0028 a0029	a0001c0001 a0001c0010 a0001c0011 others(11): Show a0001c0001 a0001c0010 a0001c0011 a0001c0012 a0002c0002 a0002c0013 a0002c0032 a0007c0008 a0009c0018 a0012c0016 a0019c0038 a0021c0028 a0028c0022 a0029c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0047 a0001c0001t0051 a0001c0010t0001 a0001c0011t0009 a0001c0011t0044 a0001c0012t0009 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0002c0002t0009 a0002c0002t0014 a0002c0002t0019 a0002c0013t0006 a0002c0032t0003 a0007c0008t0024 a0007c0008t0037 a0009c0018t0001 a0009c0018t0041 a0012c0016t0001 a0019c0038t0001 a0021c0028t0001 a0028c0022t0001 a0029c0021t0006	a0001c0001t0001g0120 a0001c0001t0001g0142 a0001c0001t0001g0144 others(75): Show a0001c0001t0001g0120 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0003g0063 a0001c0001t0003g0073 a0001c0001t0003g0075 a0001c0001t0003g0081 a0001c0001t0003g0087 a0001c0001t0006g0009 a0001c0001t0006g0019 a0001c0001t0006g0029 a0001c0001t0047g0150 a0001c0001t0051g0191 a0001c0010t0001g0168 a0001c0011t0009g0115 a0001c0011t0009g0130 a0001c0011t0044g0114 a0001c0012t0009g0128 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0169 a0002c0002t0001g0174 a0002c0002t0003g0088 a0002c0002t0003g0109 a0002c0002t0003g0111 a0002c0002t0006g0005 a0002c0002t0006g0037 a0002c0002t0006g0055 a0002c0002t0009g0121 a0002c0002t0014g0057 a0002c0002t0014g0058 a0002c0002t0019g0040 a0002c0002t0019g0041 a0002c0013t0006g0051 a0002c0032t0003g0099 a0007c0008t0024g0056 a0007c0008t0024g0059 a0007c0008t0037g0110 a0009c0018t0001g0213 a0009c0018t0041g0102 a0012c0016t0001g0151 a0012c0016t0001g0154 a0019c0038t0001g0175 a0021c0028t0001g0149 a0028c0022t0001g0119 a0029c0021t0006g0010	78	218	0.3578	37	c.202 others(56): Show c.2024+1640_2024+1641insTTATGTAACTATAAATAATTACATAA CATAGCTATAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	16/20			chr19	TogoVar
ADGRE3_chr19_14614117_14679844	14618257	C C	CACTTAAA others(30): Show CACTTAAAATCTCTCATCAGGCGCGATGGCTTGTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	372	0.0027	37	c.11 others(48): Show c.1175_*1176insAGACACAAGCCATCGCGCCTGATGAGAGATTTTA AGT	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding		859		chr19	TogoVar
ADGRG4_chrX_136295963_136421890	136383876	T T	TTCTTCTT others(30): Show TTCTTCTTTCTTCCTTTCCTTTCCTTTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03942.hp1 NA18959.hp1 HG01346.hp2 HG03942.hp1 NA18959.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0118 a0003c0003t0001g0120 a0003c0003t0001g0124 a0003c0003t0001g0118 a0003c0003t0001g0120 a0003c0003t0001g0124	3	229	0.0131	37	c.777 others(56): Show c.7777-3864_7777-3863insTCTTCTTTCTTCCTTTCCTTTCCTTT CCTTTCCTTTC	ADGRG4	ENSG00000156920.11	transcript	ENST00000394143.6	protein_coding	15/25			chrX	TogoVar
ADGRG4_chrX_136295963_136421890	136383881	C C	CTTCTTTC others(30): Show CTTCTTTCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0042 a0003c0003t0001g0042	1	229	0.0044	37	c.777 others(56): Show c.7777-3856_7777-3855insTTTCTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTC	ADGRG4	ENSG00000156920.11	transcript	ENST00000394143.6	protein_coding	15/25		INFO_REALIGN_3_PRIME	chrX	TogoVar
ADGRG6_chr6_142297007_142451261	142338017	G G	GTTTTTTT others(30): Show GTTTTTTTTTTTTTTTTGTTTGTTTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	260	0.0039	37	c.103 others(56): Show c.103+28389_103+28390insGTTTGTTTTTTTGTTTTTTTTTTTTT TTTTTTTTTTT	ADGRG6	ENSG00000112414.15	transcript	ENST00000367609.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADK_chr10_74146221_74714290	74188345	T T	TTTAATGT others(30): Show TTTAATGTATTTCTGCTCTTTTAATTTTCTTGCTGTAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp1 HG02622.hp2 others(9): Show HG02280.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02896.hp2 HG03195.hp2 HG03225.hp2 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 others(9): Show a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0004t0001g0030	12	200	0.0600	37	c.66- others(54): Show c.66-12417_66-12416insAATGTATTTCTGCTCTTTTAATTTTCTT GCTGTACTT	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADORA2A_chr22_24422599_24447357	24424655	T T	TGGCGGGA others(30): Show TGGCGGGAACTGGGTTTGGGGGACCCAGGAGACGACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	386	0.0026	37	c.-33 others(48): Show c.-3366_-3365insGGCGGGAACTGGGTTTGGGGGACCCAGGAGACGA CGG	ADORA2A	ENSG00000128271.22	transcript	ENST00000337539.12	protein_coding		2943		chr22	TogoVar
ADORA3_chr1_111494429_111508633	111502240	G G	GATACATA others(30): Show GATACATATATTTATTATAATGAATATATATAGGATAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00741.hp1 others(10): Show HG00280.hp1 HG00280.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01168.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG02683.hp1 HG02735.hp2 HG03490.hp2 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0008 a0002c0003t0002g0014 a0001c0001t0002g0008 a0002c0003t0002g0014	13	458	0.0284	37	c.350 others(52): Show c.350+764_350+765insGTATCCTATATATATTCATTATAATAAATA TATGTAT	ADORA3	ENSG00000282608.2	transcript	ENST00000241356.5	protein_coding	1/1			chr1	TogoVar
ADPRHL1_chr13_113394611_113458488	113413063	A A	AGGCTCGG others(30): Show AGGCTCGGTTCACCCACCGCCAACAGCACCCCACGGAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0031 a0031	a0031c0034 a0031c0034	a0031c0034t0031 a0031c0034t0031	a0031c0034t0031g0067 a0031c0034t0031g0067	1	262	0.0038	37	c.106 others(56): Show c.1062-4844_1062-4843insCTCCGTGGGGTGCTGTTGGCGGTGGG TGAACCGAGCC	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113413063	A A	AGGCTCGG others(30): Show AGGCTCGGTTCACCCACCGCCAACAGCGCCCCACGGAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03225.hp1 HG03579.hp1 HG01243.hp1 HG03225.hp1 HG03579.hp1	a0002 a0027 a0002 a0027	a0002c0002 a0027c0032 a0002c0002 a0027c0032	a0002c0002t0003 a0027c0032t0027 a0002c0002t0003 a0027c0032t0027	a0002c0002t0003g0057 a0002c0002t0003g0197 a0027c0032t0027g0122 a0002c0002t0003g0057 a0002c0002t0003g0197 a0027c0032t0027g0122	3	262	0.0115	37	c.106 others(56): Show c.1062-4844_1062-4843insCTCCGTGGGGCGCTGTTGGCGGTGGG TGAACCGAGCC	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADRA1D_chr20_4215630_4254287	4227704	C C	CTCCCTCC others(30): Show CTCCCTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18989.hp2 HG00621.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0159 a0001c0001t0001g0161	2	452	0.0044	37	c.111 others(56): Show c.1112-5575_1112-5574insAGGAAGGAAGGAAGGAAGGAAGGAAG GGAAGGAGGGA	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
ADRA1D_chr20_4215630_4254287	4227704	C C	CTCCTTCC others(30): Show CTCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA19089.hp2 HG04204.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0002 a0002c0004t0005 a0002c0002t0002 a0002c0004t0005	a0002c0002t0002g0287 a0002c0004t0005g0399 a0002c0002t0002g0287 a0002c0004t0005g0399	2	452	0.0044	37	c.111 others(56): Show c.1112-5575_1112-5574insAGGAAGGAAGGAAGGAAGGAAGGAAG GGAAGGAAGGA	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
ADSS2_chr1_244403494_244456909	244444514	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	408	0.0025	37	c.184 others(54): Show c.184-6747_184-6746insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	ADSS2	ENSG00000035687.10	transcript	ENST00000366535.4	protein_coding	1/12			chr1	TogoVar
AFAP1L2_chr10_114289824_114409502	114306328	C C	CGGGGGCA others(30): Show CGGGGGCAGGAGGGGACGCGGGGGGCAGGAGGGGAGGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0250 a0003c0007t0006g0250	1	262	0.0038	37	c.107 others(56): Show c.1073-1399_1073-1398insACCTCCCCTCCTGCCCCCCGCGTCCC CTCCTGCCCCC	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	10/18			chr10	TogoVar
AFDN_chr6_167821911_167977023	167826807	T T	TGCGGCGG others(30): Show TGCGGCGGCGCCGCGCGGGGCGGCGGCGCGCACGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0305 a0001c0004t0001g0305	1	326	0.0031	37	c.-32 others(46): Show c.-326_-325insGCGGCGGCGCCGCGCGGGGCGGCGGCGCGCACGGCG G	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		103		chr6	TogoVar
AFF2_chrX_148495617_149005663	148614738	T T	TTTCTTTC others(30): Show TTTCTTTCTTTTCTTTCTTTCTTTCCTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0132 a0001c0002t0020g0132	1	169	0.0059	37	c.48- others(54): Show c.48-37259_48-37258insCTTTCTTTTCTTTCTTTCTTTCCTTCTT TTCTTTCTT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148983965	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0078 a0001c0001t0035g0078	1	169	0.0059	37	c.362 others(56): Show c.3623+3178_3623+3179insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAACAAA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	19/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFG3L2_chr18_12323944_12382227	12332907	A A	AAATATAT others(30): Show AAATATATATTATATATAACATATACTATATAATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(134): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02055.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02886.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18949.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18962.hp2 NA18969.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18990.hp2 NA18993.hp2 NA18998.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19058.hp1 NA19063.hp1 NA19063.hp2 NA19077.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0003t0003 a0001c0005t0001 a0001c0007t0001 a0002c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 others(125): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0271 a0001c0001t0001g0287 a0001c0001t0001g0331 a0001c0001t0001g0346 a0001c0001t0004g0074 a0001c0001t0006g0206 a0001c0001t0006g0238 a0001c0001t0007g0020 a0001c0003t0003g0306 a0001c0005t0001g0170 a0001c0007t0001g0199 a0002c0004t0001g0015	137	376	0.3644	37	c.217 others(56): Show c.2176-3125_2176-3124insATATATTATATAGTATATGTTATATA TAATATATATT	AFG3L2	ENSG00000141385.12	transcript	ENST00000269143.8	protein_coding	16/16			chr18	TogoVar

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