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
ASB18_chr2_236188459_236269406	236237413	GGGGCCGG others(18): Show GGGGCCGGGGCCGGGGCGCGGGGCGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02258.hp2 others(14): Show HG01884.hp1 HG02109.hp1 HG02258.hp2 HG02572.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03486.hp1 HG03516.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 NA19043.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0008 a0003c0004 a0001c0003 a0001c0008 a0003c0004	a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 others(2): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0008t0003 a0003c0004t0020	a0001c0003t0001g0009 a0001c0003t0001g0011 a0001c0003t0001g0012 others(12): Show a0001c0003t0001g0009 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0093 a0001c0003t0002g0010 a0001c0003t0002g0231 a0001c0003t0005g0002 a0001c0003t0005g0004 a0001c0003t0005g0023 a0001c0003t0005g0024 a0001c0003t0005g0027 a0001c0003t0005g0215 a0001c0008t0003g0026 a0003c0004t0020g0200	17	250	0.0680	-25	c.596 others(40): Show c.596+251_596+275delTCGCCCCGCGCCCCGGCCCCGGCCC	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	3/5			chr2	TogoVar
ASB3_chr2_53664980_53791953	53671689	GCGGAGGT others(18): Show GCGGAGGTTGCAGTGAGCCGAGATCA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03486.hp2 HG03579.hp1 HG02258.hp1 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 a0001c0001t0001 a0001c0001t0004 a0001c0001t0015	a0001c0001t0001g0015 a0001c0001t0004g0014 a0001c0001t0015g0013 a0001c0001t0001g0015 a0001c0001t0004g0014 a0001c0001t0015g0013	3	350	0.0086	-25	c.137 others(44): Show c.1370-1024_1370-1000delTGATCTCGGCTCACTGCAACCTCCG	ASB3	ENSG00000115239.24	transcript	ENST00000263634.8	protein_coding	9/9			chr2	TogoVar
ASB5_chr4_176208673_176274222	176218201	AATATATA others(18): Show AATATATATATTTGTATGATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00733.hp1 HG00735.hp2 others(31): Show HG00408.hp1 HG00733.hp1 HG00735.hp2 HG01192.hp1 HG01358.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02040.hp1 HG02523.hp2 HG02683.hp2 HG02735.hp1 HG03017.hp1 HG03831.hp1 HG04199.hp2 NA18939.hp2 NA18949.hp2 NA18950.hp1 NA18953.hp1 NA18960.hp1 NA18963.hp1 NA18966.hp2 NA18972.hp2 NA18977.hp2 NA18999.hp2 NA19000.hp2 NA19060.hp1 NA19062.hp2 NA19074.hp1 NA19078.hp1 NA19081.hp1 NA19085.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020	a0001c0001t0001g0011 a0001c0001t0001g0037 a0001c0001t0001g0053 others(30): Show a0001c0001t0001g0011 a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0082 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0369 a0001c0001t0005g0108 a0001c0001t0005g0120 a0001c0001t0005g0122 a0001c0001t0008g0083 a0001c0001t0008g0101 a0001c0001t0008g0102 a0001c0001t0009g0125 a0001c0001t0009g0126 a0001c0001t0014g0111 a0001c0001t0015g0112 a0001c0001t0018g0048 a0001c0001t0020g0375	34	410	0.0829	-25	c.671 others(42): Show c.671-1217_671-1193delATTTATATCATACAAATATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176218391	AATATATA others(18): Show AATATATATTTGTATGATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0341 a0001c0002t0002g0341	1	410	0.0024	-25	c.671 others(42): Show c.671-1407_671-1383delATTTATATATCATACAAATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176219024	AATATATA others(18): Show AATATATATTTGTATGATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG01069.hp1 others(13): Show HG00323.hp2 HG00639.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01258.hp2 HG01952.hp2 HG02738.hp2 HG03834.hp2 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0003 a0001c0002t0013 a0001c0006t0003 a0001c0002t0003 a0001c0002t0013 a0001c0006t0003	a0001c0002t0003g0004 a0001c0002t0003g0018 a0001c0002t0003g0043 others(10): Show a0001c0002t0003g0004 a0001c0002t0003g0018 a0001c0002t0003g0043 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0050 a0001c0002t0003g0052 a0001c0002t0003g0059 a0001c0002t0003g0099 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0013g0233 a0001c0006t0003g0017	16	410	0.0390	-25	c.671 others(42): Show c.671-2040_671-2016delATTTATATATCATACAAATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176219187	TATAAATA others(18): Show TATAAATATATATATTTGTATGACAG	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA20300.hp2 HG02723.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0035 a0001c0002t0007g0065 a0001c0002t0007g0035 a0001c0002t0007g0065	2	410	0.0049	-25	c.670 others(42): Show c.670+1943_670+1967delCTGTCATACAAATATATATATTTAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176219262	AATATATA others(18): Show AATATATATTTGTATGATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp2 HG01071.hp1 others(30): Show HG00280.hp2 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01256.hp1 HG01258.hp1 HG01516.hp1 HG01517.hp2 HG02273.hp2 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02735.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp2 HG03195.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03710.hp1 NA18612.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18982.hp1 NA18999.hp1 NA19006.hp2 NA19089.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0018 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0018 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(25): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0018g0048 a0001c0002t0002g0334 a0001c0002t0002g0339 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0041 a0001c0002t0004g0042	33	410	0.0805	-25	c.670 others(42): Show c.670+1868_670+1892delATTTATATATCATACAAATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176219419	ATGTATGA others(18): Show ATGTATGATATATAAATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02970.hp1 HG03225.hp2 HG02630.hp1 HG02970.hp1 HG03225.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0001c0005 a0006c0009 a0001c0002 a0001c0005 a0006c0009	a0001c0002t0007 a0001c0005t0001 a0006c0009t0001 a0001c0002t0007 a0001c0005t0001 a0006c0009t0001	a0001c0002t0007g0064 a0001c0005t0001g0306 a0006c0009t0001g0186 a0001c0002t0007g0064 a0001c0005t0001g0306 a0006c0009t0001g0186	3	410	0.0073	-25	c.670 others(42): Show c.670+1711_670+1735delAATATATATATTTATATATCATACA	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASCC1_chr10_72091032_72221276	72218158	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0193 a0002c0002t0001g0193	1	216	0.0046	-25	c.-20 others(36): Show c.-2010_-1986delATATATATATATATATATTTTTTTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1883		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218162	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	216	0.0046	-25	c.-20 others(36): Show c.-2014_-1990delATATATATATATATATATATATTTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1887		chr10	TogoVar
ASH1L_chr1_155330268_155567803	155490968	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02074.hp1 HG02280.hp1 others(11): Show HG01069.hp1 HG02074.hp1 HG02280.hp1 HG03492.hp2 HG03688.hp2 HG03942.hp2 NA18949.hp1 NA18949.hp2 NA18977.hp1 NA18979.hp1 NA19002.hp1 NA19012.hp1 NA19067.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0020 a0001c0001t0001g0064 a0001c0001t0001g0073 others(11): Show a0001c0001t0001g0020 a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0007g0131	14	182	0.0769	-25	c.421 others(42): Show c.421-8544_421-8520delTTTTTTTTTTTTTTTTTTTTTTTTT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	2/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155562576	TCCGTCCG others(18): Show TCCGTCCGCGTAGCGCGCACGCCCGC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0003 a0001c0001t0012g0003	1	182	0.0055	-25	c.-54 others(34): Show c.-548_-524delGCGGGCGTGCGCGCTACGCGGACGG	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	1/28	41058		chr1	TogoVar
ASIC1_chr12_50052596_50088611	50085673	TGGGGGAG others(18): Show TGGGGGAGGCAGTGCGCAGAAAGAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG03209.hp1 HG02486.hp2 HG02559.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0071 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0071	3	324	0.0093	-25	c.40 others(36): Show c.4025_*4049delGGGGGAGGCAGTGCGCAGAAAGAGA	ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding		2063		chr12	TogoVar
ASIC2_chr17_33008087_33298295	33192384	AAAAACAA others(18): Show AAAAACAAAACAAAACAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01884.hp2 HG02976.hp1 others(12): Show HG01433.hp1 HG01884.hp2 HG02976.hp1 HG03195.hp1 HG03471.hp2 NA18945.hp1 NA18960.hp1 NA18964.hp2 NA18966.hp2 NA18990.hp2 NA19007.hp1 NA19060.hp2 NA19068.hp1 NA19070.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(6): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0002t0002 a0001c0002t0029 a0001c0004t0001 a0001c0004t0027 a0002c0003t0002	a0001c0001t0003g0053 a0001c0001t0004g0034 a0001c0001t0004g0040 others(12): Show a0001c0001t0003g0053 a0001c0001t0004g0034 a0001c0001t0004g0040 a0001c0001t0004g0080 a0001c0001t0006g0026 a0001c0001t0011g0002 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0029g0104 a0001c0004t0001g0149 a0001c0004t0027g0147 a0002c0003t0002g0179	15	240	0.0625	-25	c.709 others(44): Show c.709-80342_709-80318delGTTTTGTTTTGTTTTGTTTTGTTTT	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASL_chr7_66070819_66098576	66096983	GTTTGTTT others(18): Show GTTTGTTTGTTTTTATTTTTATTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	316	0.0032	-25	c.40 others(36): Show c.4072_*4096delTTTGTTTGTTTTTATTTTTATTTTT	ASL	ENSG00000126522.17	transcript	ENST00000304874.14	protein_coding		3408		chr7	TogoVar
ASMT_chrX_1610059_1648081	1612495	ATCCTGGC others(18): Show ATCCTGGCCAATATAGTGAAACCCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0002 a0010c0015t0002	a0010c0015t0002g0179 a0010c0015t0002g0179	1	223	0.0045	-25	c.-27 others(36): Show c.-2704_-2680delTCCTGGCCAATATAGTGAAACCCTG	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		2563		chrX	TogoVar
ASPHD2_chr22_26424260_26450015	26435710	TAAAAGAA others(18): Show TAAAAGAAAAGAAAAGAAAAGAAAAG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp2 HG01168.hp1 others(11): Show HG00741.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01261.hp1 HG01934.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp2 HG02559.hp1 HG02723.hp2 HG03516.hp1 HG06807.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 a0001c0001t0023 a0001c0001t0024 a0001c0001t0030 a0001c0001t0031	a0001c0001t0001g0028 a0001c0001t0001g0076 a0001c0001t0010g0077 others(6): Show a0001c0001t0001g0028 a0001c0001t0001g0076 a0001c0001t0010g0077 a0001c0001t0014g0016 a0001c0001t0023g0016 a0001c0001t0023g0164 a0001c0001t0024g0049 a0001c0001t0030g0016 a0001c0001t0031g0147	14	428	0.0327	-25	c.886 others(42): Show c.886+1239_886+1263delGAAAAGAAAAGAAAAGAAAAGAAAA	ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
ASS1_chr9_130439961_130506274	130485408	AGCCAAGC others(18): Show AGCCAAGCTGGGCACCTTCTGTAAAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02630.hp2 HG02723.hp2 others(2): Show HG02280.hp1 HG02630.hp2 HG02723.hp2 HG02886.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0161 a0001c0001t0001g0354 a0001c0001t0001g0003 a0001c0001t0001g0161 a0001c0001t0001g0354	5	374	0.0134	-25	c.839 others(42): Show c.839-3910_839-3886delCTTCTGTAAAGGCCAAGCTGGGCAC	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060325	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAGAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02965.hp2 HG02559.hp1 HG02572.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0014 a0001c0001 a0001c0011 a0001c0014	a0001c0001t0007 a0001c0011t0004 a0001c0014t0017 a0001c0001t0007 a0001c0011t0004 a0001c0014t0017	a0001c0001t0007g0087 a0001c0011t0004g0097 a0001c0014t0017g0050 a0001c0001t0007g0087 a0001c0011t0004g0097 a0001c0014t0017g0050	3	102	0.0294	-25	c.127 others(46): Show c.1277-20385_1277-20361delCTTTCTCTCTTTCTTTCTTTCTTT C	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117060485	GAATGAAA others(18): Show GAATGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0002 a0001c0001t0011g0002	1	102	0.0098	-25	c.127 others(46): Show c.1277-20545_1277-20521delTCTTTCTTTCTTTCTTTCTTTCAT T	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ATAD3A_chr1_1507162_1539685	1518260	CACACACA others(18): Show CACACACACACCACACACAGGTACGT	C C	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0004 a0001c0028t0004	a0001c0028t0004g0083 a0001c0028t0004g0083	1	420	0.0024	-25	c.444 others(40): Show c.444+488_444+512delACACACACCACACACAGGTACGTAC	ATAD3A	ENSG00000197785.14	transcript	ENST00000378756.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3A_chr1_1507162_1539685	1537554	CCTGGAGG others(18): Show CCTGGAGGGCTCAGGTCTCCCAAGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0306 a0002c0002t0001g0306	1	420	0.0024	-25	c.34 others(36): Show c.3483_*3507delCTGGAGGGCTCAGGTCTCCCAAGTG	ATAD3A	ENSG00000197785.14	transcript	ENST00000378756.8	protein_coding		2870		chr1	TogoVar
ATAD3A_chr1_1507162_1539685	1539088	CGTACAAA others(18): Show CGTACAAACATGCATGGCCAAGAGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0038 a0002c0002t0001g0038	1	420	0.0024	-25	c.50 others(36): Show c.5017_*5041delGTACAAACATGCATGGCCAAGAGGA	ATAD3A	ENSG00000197785.14	transcript	ENST00000378756.8	protein_coding		4404		chr1	TogoVar
ATAD5_chr17_30826966_30900869	30850855	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0277 a0006c0006t0001g0277	1	286	0.0035	-25	c.245 others(44): Show c.2451-4286_2451-4262delATATATATATATATTTTTTTTTTTT	ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
ATCAY_chr19_3875685_3933082	3879508	AGAAAGAA others(18): Show AGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 NA18963.hp2 NA19060.hp1 HG01261.hp1 NA18963.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0112 a0001c0001t0001g0152 a0001c0001t0004g0131 a0001c0001t0001g0112 a0001c0001t0001g0152 a0001c0001t0004g0131	3	384	0.0078	-25	c.-15 others(36): Show c.-1541_-1517delGAAAGAAAGAAAGAAAGAAAGAAAG	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding		1176		chr19	TogoVar
ATE1_chr10_121735424_121933031	121903073	CCAGACTG others(18): Show CCAGACTGGTCTCAAACTCCCTTGGA	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0236 a0001c0002t0007g0236	1	320	0.0031	-25	c.584 others(40): Show c.584-478_584-454delTCCAAGGGAGTTTGAGACCAGTCTG	ATE1	ENSG00000107669.19	transcript	ENST00000224652.12	protein_coding	5/11			chr10	TogoVar
ATF7IP2_chr16_10381061_10488638	10410311	AGTTTTGT others(18): Show AGTTTTGTTTTGTTTTGTTTTGTTTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01256.hp2 HG01257.hp2 others(26): Show HG01099.hp1 HG01256.hp2 HG01257.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02145.hp1 HG02148.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp2 NA18906.hp2 NA18953.hp2 NA18961.hp1 NA18964.hp2 NA18982.hp1 NA18993.hp1 NA18995.hp1 NA19080.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0003c0011 a0001c0002 a0003c0004 a0003c0011	a0001c0002t0003 a0003c0004t0002 a0003c0011t0002 a0001c0002t0003 a0003c0004t0002 a0003c0011t0002	a0001c0002t0003g0289 a0001c0002t0003g0290 a0001c0002t0003g0291 others(25): Show a0001c0002t0003g0289 a0001c0002t0003g0290 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0003g0295 a0001c0002t0003g0296 a0001c0002t0003g0297 a0001c0002t0003g0300 a0001c0002t0003g0334 a0001c0002t0003g0335 a0001c0002t0003g0336 a0001c0002t0003g0337 a0001c0002t0003g0338 a0001c0002t0003g0341 a0001c0002t0003g0342 a0001c0002t0003g0344 a0001c0002t0003g0345 a0001c0002t0003g0364 a0003c0004t0002g0003 a0003c0004t0002g0156 a0003c0004t0002g0157 a0003c0004t0002g0158 a0003c0004t0002g0160 a0003c0004t0002g0162 a0003c0004t0002g0163 a0003c0004t0002g0365 a0003c0011t0002g0159 a0003c0011t0002g0161	29	376	0.0771	-25	c.-24 others(44): Show c.-241-4237_-241-4213delGTTTTGTTTTGTTTTGTTTTGTTTT	ATF7IP2	ENSG00000166669.14	transcript	ENST00000562102.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATF7IP_chr12_14360682_14507930	14369761	GCTAGTTT others(18): Show GCTAGTTTCCATTTTTTTCCAGATAT	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02145.hp2 HG02451.hp2 others(11): Show HG01934.hp1 HG02145.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02647.hp2 HG02818.hp2 HG02965.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2	a0003 a0003	a0003c0003 a0003c0005 a0003c0003 a0003c0005	a0003c0003t0035 a0003c0005t0007 a0003c0005t0038 others(1): Show a0003c0003t0035 a0003c0005t0007 a0003c0005t0038 a0003c0005t0041	a0003c0003t0035g0343 a0003c0005t0007g0325 a0003c0005t0007g0326 others(11): Show a0003c0003t0035g0343 a0003c0005t0007g0325 a0003c0005t0007g0326 a0003c0005t0007g0327 a0003c0005t0007g0328 a0003c0005t0007g0329 a0003c0005t0007g0330 a0003c0005t0007g0332 a0003c0005t0007g0333 a0003c0005t0007g0334 a0003c0005t0007g0335 a0003c0005t0007g0336 a0003c0005t0038g0331 a0003c0005t0041g0337	14	346	0.0405	-25	c.-8+ others(40): Show c.-8+3946_-8+3970delTTTTTTCCAGATATCTAGTTTCCAT	ATF7IP	ENSG00000171681.13	transcript	ENST00000261168.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATG14_chr14_55361391_55416830	55402915	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0028 a0002c0003t0011g0028	1	366	0.0027	-25	c.222 others(42): Show c.222-5506_222-5482delATATATATATATATTTTTTTTTTTT	ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9			chr14	TogoVar
ATG14_chr14_55361391_55416830	55402917	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0022 a0002c0003t0011g0022	1	366	0.0027	-25	c.222 others(42): Show c.222-5508_222-5484delATATATATATATATATTTTTTTTTT	ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9			chr14	TogoVar
ATG14_chr14_55361391_55416830	55402919	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0102 a0001c0001t0011g0102	1	366	0.0027	-25	c.222 others(42): Show c.222-5510_222-5486delATATATATATATATATATTTTTTTT	ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9			chr14	TogoVar
ATG14_chr14_55361391_55416830	55402925	AAATATAT others(18): Show AAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0336 a0001c0001t0003g0336	1	366	0.0027	-25	c.222 others(42): Show c.222-5516_222-5492delATATATATATATATATATATATATT	ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9			chr14	TogoVar
ATG4D_chr19_10538904_10558418	10548003	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA18961.hp2 HG01975.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0150 a0001c0001t0001g0083 a0001c0001t0001g0150	2	406	0.0049	-25	c.835 others(40): Show c.835+771_835+795delTTTTTTTTTTTTTTTTTTTTTTTTT	ATG4D	ENSG00000130734.10	transcript	ENST00000309469.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATOSA_chr15_52576321_52684388	52597165	GTTCTATT others(18): Show GTTCTATTCTATTCTATTCTATTCTA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0019 a0003c0004t0007g0019	1	362	0.0028	-25	c.264 others(44): Show c.2649+2937_2649+2961delTAGAATAGAATAGAATAGAATAGAA	ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding	9/12			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160755839	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0020 a0001c0006t0020	a0001c0006t0020g0184 a0001c0006t0020g0184	1	236	0.0042	-25	c.-33 others(46): Show c.-331+29695_-331+29719delATATATATATATATATATATATAT A	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	2/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112804034	GCCCTCCT others(18): Show GCCCTCCTTCCCTCCTTTTCCTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0044 a0001c0042t0044	a0001c0042t0044g0148 a0001c0042t0044g0148	1	254	0.0039	-25	c.163 others(40): Show c.163-913_163-889delCCTCCTTTTCCTCCTTCCCTCCTTC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11C_chrX_139721348_139938053	139828080	GCTGTATA others(18): Show GCTGTATATAACTCTGGAAAGCTACT	G G	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0012 a0002c0002t0005g0012	1	234	0.0043	-25	c.28- others(40): Show c.28-1282_28-1258delAGTAGCTTTCCAGAGTTATATACAG	ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	1/29			chrX	TogoVar
ATP13A1_chr19_19640198_19668676	19666607	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	380	0.0026	-25	c.-29 others(36): Show c.-2966_-2942delAAAAAAAAAAAAAAAAAAAAAAAAA	ATP13A1	ENSG00000105726.17	transcript	ENST00000357324.11	protein_coding		2932		chr19	TogoVar
ATP13A3_chr3_194397677_194492002	194491745	CCCCCTCC others(18): Show CCCCCTCCATCTCTGACCTGGCATGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02886.hp2 HG03041.hp2 others(4): Show HG02258.hp1 HG02886.hp2 HG03041.hp2 HG03139.hp2 HG03453.hp2 HG03579.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0010 a0001c0001t0045 a0003c0006t0010 a0001c0001t0010 a0001c0001t0045 a0003c0006t0010	a0001c0001t0010g0260 a0001c0001t0010g0261 a0001c0001t0010g0262 others(4): Show a0001c0001t0010g0260 a0001c0001t0010g0261 a0001c0001t0010g0262 a0001c0001t0010g0263 a0001c0001t0010g0264 a0001c0001t0045g0266 a0003c0006t0010g0265	7	304	0.0230	-25	c.-52 others(36): Show c.-5293_-5269delACATGCCAGGTCAGAGATGGAGGGG	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding		4744		chr3	TogoVar
ATP13A4_chr3_193393967_193559895	193418121	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0101 a0002c0003t0006g0101	1	302	0.0033	-25	c.284 others(44): Show c.2843-3396_2843-3372delTTTTTTTTTTTTTTTTTTTTTTTTT	ATP13A4	ENSG00000127249.15	transcript	ENST00000342695.9	protein_coding	25/29			chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141874779	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03130.hp1 HG03516.hp2 HG03098.hp2 HG03130.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245	3	408	0.0074	-25	c.-20 others(36): Show c.-2022_-1998delTTTTTTTTTTTTTTTTTTTTTTTTT	ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding		1863		chr3	TogoVar
ATP1B4_chrX_120357089_120388237	120374583	AATATATA others(18): Show AATATATATATACCCTTATATATAAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0194 a0001c0001t0006g0194	1	353	0.0028	-25	c.563 others(40): Show c.563-779_563-755delTACCCTTATATATAATATATATATA	ATP1B4	ENSG00000101892.12	transcript	ENST00000218008.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP2B1_chr12_89583049_89713838	89628401	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01884.hp1 HG02922.hp1 others(2): Show HG01192.hp1 HG01884.hp1 HG02922.hp1 HG03225.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0021 a0001c0003t0001 a0001c0003t0021	a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0052 others(2): Show a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0054 a0001c0003t0021g0049	5	332	0.0151	-25	c.929 others(40): Show c.929-710_929-686delTTTTTTTTTTTTTTTTTTTTTTTTT	ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	6/20			chr12	TogoVar
ATP2B2_chr3_10319023_10510586	10323557	AGGTTTGT others(18): Show AGGTTTGTGAAGTCCAGACTCCTCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02257.hp1 HG02257.hp2 others(8): Show HG00735.hp2 HG02257.hp1 HG02257.hp2 HG02559.hp2 HG02622.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG03195.hp2 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0010	a0001c0001t0005 a0001c0001t0047 a0001c0002t0005 others(4): Show a0001c0001t0005 a0001c0001t0047 a0001c0002t0005 a0001c0004t0005 a0001c0004t0024 a0001c0008t0003 a0001c0010t0003	a0001c0001t0005g0206 a0001c0001t0047g0277 a0001c0002t0005g0181 others(8): Show a0001c0001t0005g0206 a0001c0001t0047g0277 a0001c0002t0005g0181 a0001c0002t0005g0182 a0001c0004t0005g0149 a0001c0004t0005g0178 a0001c0004t0005g0180 a0001c0004t0024g0189 a0001c0004t0024g0190 a0001c0008t0003g0053 a0001c0010t0003g0186	11	290	0.0379	-25	c.52 others(36): Show c.5232_*5256delCTGAGGAGTCTGGACTTCACAAACC	ATP2B2	ENSG00000157087.20	transcript	ENST00000360273.7	protein_coding		465		chr3	TogoVar
ATP2C1_chr3_130889084_131008150	130986908	GTTTAGTT others(18): Show GTTTAGTTTAGTTTAGTTAGTTTAGT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00673.hp2 others(59): Show HG00597.hp1 HG00609.hp2 HG00673.hp2 HG00741.hp2 HG01069.hp2 HG01109.hp1 HG01175.hp1 HG01243.hp2 HG02055.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02148.hp1 HG02155.hp2 HG02523.hp2 HG02602.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp2 HG02895.hp2 HG02976.hp1 HG03139.hp2 HG03453.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp2 HG03927.hp2 HG04184.hp1 NA18522.hp1 NA18747.hp2 NA18943.hp1 NA18954.hp2 NA18960.hp2 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18980.hp2 NA18981.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp1 NA18997.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19006.hp2 NA19009.hp2 NA19011.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19062.hp2 NA19066.hp2 NA19074.hp2 NA19082.hp1 NA19087.hp1 NA19088.hp2 NA20805.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0002t0001 a0001c0006t0001 a0005c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0081 a0001c0001t0001g0082 others(58): Show a0001c0001t0001g0002 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0230 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0314 a0001c0001t0001g0325 a0001c0001t0001g0361 a0001c0001t0002g0115 a0001c0001t0005g0172 a0001c0001t0012g0123 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0001g0346 a0001c0006t0001g0263 a0005c0008t0001g0193	62	382	0.1623	-25	c.184 others(44): Show c.1840-6040_1840-6016delTAGTTTAGTTTAGTTAGTTTAGTTT	ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP2C2_chr16_84363538_84469187	84466202	TAAGCTGA others(18): Show TAAGCTGAAGTTGAAACCCTTCCAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02723.hp2 HG02630.hp1 HG02723.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0002 a0001c0029t0002	a0001c0029t0002g0388 a0001c0029t0002g0389 a0001c0029t0002g0388 a0001c0029t0002g0389	2	432	0.0046	-25	c.24 others(36): Show c.2471_*2495delAAGCTGAAGTTGAAACCCTTCCAAA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding		2016		chr16	TogoVar
ATP4A_chr19_35545031_35568658	35557870	AGGCTGTG others(18): Show AGGCTGTGGACGGGGGAACGGGGCGG	A A	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	426	0.0024	-25	c.150 others(40): Show c.1501-48_1501-24delCCGCCCCGTTCCCCCGTCCACAGCC	ATP4A	ENSG00000105675.9	transcript	ENST00000262623.4	protein_coding	10/21			chr19	TogoVar
ATP5MC1_chr17_48887787_48900871	48898498	CCCACAAC others(18): Show CCCACAACAAGCCAGTGACAACCAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	334	0.0030	-25	c.27 others(36): Show c.2730_*2754delCCACAACAAGCCAGTGACAACCAGA	ATP5MC1	ENSG00000159199.14	transcript	ENST00000393366.7	protein_coding		2628		chr17	TogoVar
ATP6V1D_chr14_67332872_67364804	67335954	GTTCTTTA others(18): Show GTTCTTTACAGAGGGATAGTGCCCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG02809.hp2 others(3): Show HG00735.hp2 HG00741.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0044 a0001c0001t0001g0176 a0001c0001t0003g0177 others(2): Show a0001c0001t0001g0044 a0001c0001t0001g0176 a0001c0001t0003g0177 a0001c0001t0003g0189 a0001c0001t0004g0178	6	348	0.0172	-25	c.26 others(36): Show c.2642_*2666delGGGGGCACTATCCCTCTGTAAAGAA	ATP6V1D	ENSG00000100554.12	transcript	ENST00000216442.12	protein_coding		1917		chr14	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631696	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0208 a0001c0001t0004g0208	1	370	0.0027	-25	c.-30 others(36): Show c.-3086_-3062delAAAAAAAAAAAAAAATATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2948		chr22	TogoVar

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