Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ABI1_chr10_26741596_26865958	26761661	T T	TATATATA others(11): Show TATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0276 a0001c0001t0005g0276	1	358	0.0028	18	c.821 others(35): Show c.821-2424_821-2423insGTGTGTGTATATATATAT	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	7/10			chr10	TogoVar
ABI1_chr10_26741596_26865958	26773215	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02055.hp1 HG02074.hp2 others(20): Show HG01346.hp1 HG02055.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02165.hp1 HG02976.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp1 NA18946.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18963.hp1 NA18969.hp1 NA18971.hp1 NA18978.hp1 NA18984.hp2 NA19030.hp2 NA19083.hp1 NA19084.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012	a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0003g0270 others(20): Show a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0003g0270 a0001c0001t0003g0279 a0001c0001t0003g0321 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0333 a0001c0001t0003g0335 a0001c0001t0003g0338 a0001c0001t0003g0341 a0001c0001t0005g0319 a0001c0001t0005g0320 a0001c0001t0005g0323 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 a0001c0001t0005g0330 a0001c0001t0005g0342 a0001c0001t0009g0336 a0001c0001t0009g0337 a0001c0001t0012g0344	23	358	0.0643	18	c.463 others(35): Show c.463-2127_463-2126insAAAAAAAAAAAAAAAAAA	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	3/10			chr10	TogoVar
ABI1_chr10_26741596_26865958	26816986	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03710.hp1 NA19030.hp2 HG01891.hp2 HG03710.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0003 a0001c0001t0016	a0001c0001t0003g0279 a0001c0001t0003g0300 a0001c0001t0016g0241 a0001c0001t0003g0279 a0001c0001t0003g0300 a0001c0001t0016g0241	3	358	0.0084	18	c.285 others(35): Show c.285+6134_285+6151dupCACACACACACACACACA	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	2/10			chr10	TogoVar
ABI2_chr2_203323394_203437169	203385139	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02809.hp1 others(7): Show HG02109.hp1 HG02451.hp1 HG02809.hp1 HG03139.hp2 HG03831.hp1 NA18960.hp1 NA18978.hp2 NA18992.hp1 NA18995.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 a0001c0001t0005 a0001c0001t0011 a0001c0001t0013	a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0005g0110 others(7): Show a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0005g0110 a0001c0001t0005g0115 a0001c0001t0005g0156 a0001c0001t0005g0176 a0001c0001t0011g0153 a0001c0001t0011g0154 a0001c0001t0011g0155 a0001c0001t0013g0104	10	320	0.0313	18	c.480 others(35): Show c.480+2946_480+2947insTTTTTTTTTTTTTTTTTT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203392275	T T	TCACCACC others(11): Show TCACCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00609.hp1 others(14): Show HG00438.hp2 HG00597.hp1 HG00609.hp1 HG01081.hp2 HG01175.hp1 HG01255.hp1 HG01358.hp2 NA18940.hp2 NA18951.hp2 NA18965.hp2 NA18970.hp2 NA18991.hp2 NA18994.hp2 NA19009.hp2 NA19030.hp2 NA19064.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0207 a0001c0001t0001g0230 a0001c0001t0001g0232 others(14): Show a0001c0001t0001g0207 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0247 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0285 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0301 a0001c0001t0001g0306 a0001c0001t0001g0318 a0001c0001t0003g0205	17	320	0.0531	18	c.578 others(35): Show c.578+1156_578+1173dupCCACCACCACCACCACCA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203395448	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	320	0.0031	18	c.726 others(33): Show c.726-207_726-206insTATATATATATATATACA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI3BP_chr3_100744156_100998421	100869330	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG02083.hp2 others(6): Show HG00438.hp2 HG00597.hp2 HG02083.hp2 HG02293.hp2 HG03831.hp1 NA18942.hp1 NA18943.hp2 NA18966.hp1 NA18977.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0009 a0001c0032 others(2): Show a0001c0001 a0001c0009 a0001c0032 a0002c0002 a0004c0007	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(5): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0009t0001 a0001c0032t0005 a0002c0002t0003 a0004c0007t0004	a0001c0001t0002g0080 a0001c0001t0006g0216 a0001c0001t0008g0186 others(6): Show a0001c0001t0002g0080 a0001c0001t0006g0216 a0001c0001t0008g0186 a0001c0001t0008g0198 a0001c0001t0014g0215 a0001c0009t0001g0097 a0001c0032t0005g0111 a0002c0002t0003g0050 a0004c0007t0004g0238	9	238	0.0378	18	c.911 others(35): Show c.911-2392_911-2375dupAAAAAAAAAAAAAAAAAA	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	9/67			chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100894938	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18994.hp2 HG02486.hp1 NA18994.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0051 a0001c0001 a0012c0051	a0001c0001t0003 a0012c0051t0010 a0001c0001t0003 a0012c0051t0010	a0001c0001t0003g0112 a0012c0051t0010g0018 a0001c0001t0003g0112 a0012c0051t0010g0018	2	238	0.0084	18	c.461 others(35): Show c.461+3806_461+3823dupTTTTTTTTTTTTTTTTTT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	4/67			chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100894952	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0005 a0011c0021t0005	a0011c0021t0005g0115 a0011c0021t0005g0115	1	238	0.0042	18	c.461 others(35): Show c.461+3809_461+3810insGTTTTTTTTTTTTTTTTT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	4/67			chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100894952	A A	AAAAAAAA others(11): Show AAAAAAAAAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0076 a0001c0009t0001g0076	1	238	0.0042	18	c.461 others(35): Show c.461+3809_461+3810insGTTTTTGTTTTTTTTTTT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	4/67			chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100922553	T T	TGATGGTG others(11): Show TGATGGTGATGGTGATGGC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0017 a0017	a0017c0036 a0017c0036	a0017c0036t0009 a0017c0036t0009	a0017c0036t0009g0189 a0017c0036t0009g0189	1	238	0.0042	18	c.259 others(35): Show c.259+3748_259+3749insGCCATCACCATCACCATC	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	2/67			chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100940829	T T	TATATATA others(11): Show TATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00642.hp2 HG00741.hp1 others(30): Show HG00597.hp2 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01192.hp1 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01978.hp2 HG02071.hp1 HG02083.hp2 HG02559.hp1 HG02615.hp2 HG02698.hp1 HG03041.hp1 HG03654.hp2 HG03669.hp1 HG03834.hp1 HG04115.hp1 NA18906.hp1 NA18943.hp1 NA18953.hp1 NA18962.hp2 NA18966.hp2 NA18986.hp1 NA18993.hp2 NA18994.hp1 NA19007.hp2 NA19009.hp1 NA19062.hp1 NA19082.hp1 NA19240.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0017 a0021	a0001c0001 a0001c0004 a0001c0005 others(14): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009 a0001c0032 a0002c0002 a0002c0006 a0002c0008 a0002c0010 a0002c0045 a0003c0003 a0004c0007 a0004c0049 a0005c0011 a0006c0025 a0017c0036 a0021c0034	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(23): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0021 a0001c0001t0028 a0001c0004t0002 a0001c0005t0001 a0001c0009t0001 a0001c0009t0019 a0001c0032t0005 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 a0002c0006t0001 a0002c0008t0001 a0002c0010t0002 a0002c0045t0003 a0003c0003t0006 a0004c0007t0001 a0004c0049t0001 a0005c0011t0022 a0006c0025t0001 a0006c0025t0035 a0017c0036t0009 a0021c0034t0030	a0001c0001t0002g0072 a0001c0001t0002g0083 a0001c0001t0006g0203 others(30): Show a0001c0001t0002g0072 a0001c0001t0002g0083 a0001c0001t0006g0203 a0001c0001t0006g0216 a0001c0001t0008g0194 a0001c0001t0021g0075 a0001c0001t0021g0106 a0001c0001t0028g0068 a0001c0004t0002g0031 a0001c0005t0001g0058 a0001c0009t0001g0086 a0001c0009t0019g0054 a0001c0032t0005g0111 a0002c0002t0002g0064 a0002c0002t0002g0105 a0002c0002t0003g0141 a0002c0002t0003g0156 a0002c0002t0005g0057 a0002c0002t0008g0228 a0002c0006t0001g0081 a0002c0008t0001g0056 a0002c0010t0002g0101 a0002c0010t0002g0102 a0002c0010t0002g0165 a0002c0045t0003g0146 a0003c0003t0006g0210 a0004c0007t0001g0094 a0004c0049t0001g0120 a0005c0011t0022g0173 a0006c0025t0001g0127 a0006c0025t0035g0190 a0017c0036t0009g0189 a0021c0034t0030g0044	33	238	0.1387	18	c.80- others(35): Show c.80-14349_80-14348insCTATATATATATATATAT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	1/67			chr3	TogoVar
ABL2_chr1_179094330_179234677	179178401	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00558.hp2 others(31): Show HG00099.hp2 HG00408.hp1 HG00558.hp2 HG00673.hp2 HG00741.hp1 HG01071.hp2 HG01167.hp1 HG01169.hp2 HG01361.hp1 HG01516.hp2 HG01975.hp2 HG01993.hp1 HG02015.hp2 HG02080.hp2 HG02135.hp1 HG02523.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp1 HG04228.hp1 HG06807.hp1 NA18942.hp1 NA18969.hp1 NA18983.hp1 NA18986.hp2 NA18992.hp1 NA18995.hp1 NA19000.hp1 NA19058.hp2 NA19066.hp2 NA19085.hp2 NA19087.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(14): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0026 a0001c0001t0033 a0001c0001t0043 a0001c0001t0062 a0001c0001t0063 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0002t0010 a0001c0002t0017	a0001c0001t0003g0045 a0001c0001t0003g0072 a0001c0001t0003g0097 others(31): Show a0001c0001t0003g0045 a0001c0001t0003g0072 a0001c0001t0003g0097 a0001c0001t0004g0046 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0077 a0001c0001t0004g0085 a0001c0001t0004g0088 a0001c0001t0004g0090 a0001c0001t0006g0038 a0001c0001t0006g0075 a0001c0001t0006g0081 a0001c0001t0006g0114 a0001c0001t0013g0065 a0001c0001t0013g0107 a0001c0001t0013g0108 a0001c0001t0018g0069 a0001c0001t0018g0080 a0001c0001t0019g0091 a0001c0001t0019g0098 a0001c0001t0025g0043 a0001c0001t0026g0041 a0001c0001t0026g0044 a0001c0001t0033g0070 a0001c0001t0043g0259 a0001c0001t0062g0068 a0001c0001t0063g0117 a0001c0001t0066g0036 a0001c0001t0067g0102 a0001c0001t0068g0093 a0001c0002t0010g0261 a0001c0002t0017g0268	34	350	0.0971	18	c.158 others(37): Show c.158-45045_158-45028dupTTTTTTTTTTTTTTTTTT	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	1/11			chr1	TogoVar
ABL2_chr1_179094330_179234677	179214519	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0115 a0001c0001t0014g0115	1	350	0.0029	18	c.157 others(37): Show c.157+14704_157+14721dupATATATATATATATATAT	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	1/11			chr1	TogoVar
ABL2_chr1_179094330_179234677	179229632	A A	ACGCCGCC others(11): Show ACGCCGCCGCCGCCGCCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02615.hp2 HG02647.hp1 others(1): Show HG02572.hp2 HG02615.hp2 HG02647.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0032 a0001c0001t0057 a0001c0004t0058 a0001c0001t0032 a0001c0001t0057 a0001c0004t0058	a0001c0001t0032g0026 a0001c0001t0032g0027 a0001c0001t0057g0029 others(1): Show a0001c0001t0032g0026 a0001c0001t0032g0027 a0001c0001t0057g0029 a0001c0004t0058g0028	4	350	0.0114	18	c.-25 others(27): Show c.-253_-236dupGCGGCGGCGGCGGCGGCG	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	1/12	236		chr1	TogoVar
ABL2_chr1_179094330_179234677	179229643	G G	GCCGCCGC others(11): Show GCCGCCGCCGCCGCCGCCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0350 a0001c0001t0114g0350	1	350	0.0029	18	c.-24 others(27): Show c.-247_-246insTGGCGGCGGCGGCGGCGG	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	1/12	247		chr1	TogoVar
ABLIM1_chr10_114426112_114663275	114448604	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0091 a0002c0005t0091	a0002c0005t0091g0111 a0002c0005t0091g0111	1	256	0.0039	18	c.159 others(35): Show c.1595-602_1595-585dupTAATAATAATAATAATAA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	14/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114476646	A A	AAATAAGA others(11): Show AAATAAGAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0159 a0001c0024t0159	a0001c0024t0159g0147 a0001c0024t0159g0147	1	256	0.0039	18	c.104 others(37): Show c.1042-2691_1042-2690insATTATTATTATTCTTATT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	8/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114476646	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp1 HG02895.hp2 others(4): Show HG02615.hp2 HG02717.hp1 HG02895.hp2 HG02922.hp2 HG03453.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005	a0001c0001t0057 a0001c0001t0093 a0001c0001t0108 others(3): Show a0001c0001t0057 a0001c0001t0093 a0001c0001t0108 a0001c0002t0008 a0001c0003t0039 a0002c0005t0091	a0001c0001t0057g0085 a0001c0001t0093g0146 a0001c0001t0108g0174 others(4): Show a0001c0001t0057g0085 a0001c0001t0093g0146 a0001c0001t0108g0174 a0001c0002t0008g0131 a0001c0003t0039g0126 a0001c0003t0039g0127 a0002c0005t0091g0111	7	256	0.0273	18	c.104 others(37): Show c.1042-2708_1042-2691dupATTATTATTATTATTATT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	8/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(11): Show GTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA20129.hp1 NA20752.hp1 HG01192.hp2 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0108 a0001c0002t0001 a0001c0001t0108 a0001c0002t0001	a0001c0001t0108g0174 a0001c0002t0001g0089 a0001c0002t0001g0173 a0001c0001t0108g0174 a0001c0002t0001g0089 a0001c0002t0001g0173	3	256	0.0117	18	c.982 others(33): Show c.982+778_982+779insTATATATATACACACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03471.hp1 HG02818.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0024 a0001c0002 a0001c0024	a0001c0002t0062 a0001c0024t0159 a0001c0002t0062 a0001c0024t0159	a0001c0002t0062g0153 a0001c0024t0159g0147 a0001c0002t0062g0153 a0001c0024t0159g0147	2	256	0.0078	18	c.982 others(33): Show c.982+778_982+779insTATATATACACACACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 NA19090.hp1 HG00099.hp1 HG00733.hp1 NA19090.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0031 a0001c0003t0143 a0001c0003t0002 a0001c0003t0031 a0001c0003t0143	a0001c0003t0002g0041 a0001c0003t0031g0066 a0001c0003t0143g0182 a0001c0003t0002g0041 a0001c0003t0031g0066 a0001c0003t0143g0182	3	256	0.0117	18	c.982 others(33): Show c.982+778_982+779insTATATACACACACACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114491012	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0031 a0001c0003t0031	a0001c0003t0031g0105 a0001c0003t0031g0105	1	256	0.0039	18	c.982 others(33): Show c.982+778_982+779insTATACACACACACACACA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	7/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114558902	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02809.hp2 others(5): Show HG02622.hp2 HG02630.hp1 HG02809.hp2 HG03130.hp1 HG03453.hp1 HG03654.hp1 HG03927.hp2 NA18997.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0019 others(1): Show a0001c0001 a0001c0002 a0001c0019 a0002c0009	a0001c0001t0013 a0001c0001t0123 a0001c0002t0008 others(5): Show a0001c0001t0013 a0001c0001t0123 a0001c0002t0008 a0001c0002t0038 a0001c0002t0074 a0001c0002t0098 a0001c0019t0016 a0002c0009t0090	a0001c0001t0013g0177 a0001c0001t0123g0165 a0001c0002t0008g0131 others(5): Show a0001c0001t0013g0177 a0001c0001t0123g0165 a0001c0002t0008g0131 a0001c0002t0038g0248 a0001c0002t0074g0013 a0001c0002t0098g0119 a0001c0019t0016g0039 a0002c0009t0090g0010	8	256	0.0313	18	c.674 others(37): Show c.674-11127_674-11126insACACACACACACACACAC	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	4/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583460	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0080 a0001c0002t0080	a0001c0002t0080g0243 a0001c0002t0080g0243	1	256	0.0039	18	c.380 others(35): Show c.380-7862_380-7861insATATATATATATATATAT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583468	C C	CACATATA others(11): Show CACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0195 a0001c0002t0041g0195	1	256	0.0039	18	c.380 others(35): Show c.380-7870_380-7869insATATATATATATATATGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583468	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0056 a0001c0002t0006g0056	1	256	0.0039	18	c.380 others(35): Show c.380-7887_380-7870dupATATATATATATATATAT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114634129	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01255.hp2 HG01433.hp1 others(6): Show HG00733.hp1 HG01255.hp2 HG01433.hp1 HG02615.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0009	a0001c0001t0004 a0001c0001t0023 a0001c0002t0050 others(5): Show a0001c0001t0004 a0001c0001t0023 a0001c0002t0050 a0001c0003t0001 a0001c0003t0121 a0001c0003t0143 a0001c0004t0011 a0002c0009t0063	a0001c0001t0004g0136 a0001c0001t0023g0004 a0001c0002t0050g0008 others(6): Show a0001c0001t0004g0136 a0001c0001t0023g0004 a0001c0002t0050g0008 a0001c0003t0001g0168 a0001c0003t0121g0167 a0001c0003t0143g0182 a0001c0004t0011g0007 a0001c0004t0011g0011 a0002c0009t0063g0144	9	256	0.0352	18	c.244 others(37): Show c.244+23810_244+23827dupAAAAAAAAAAAAAAAAAA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	1/22			chr10	TogoVar
ABLIM2_chr4_7960327_8163813	7969730	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG02015.hp1 others(7): Show HG00438.hp1 HG00642.hp1 HG02015.hp1 HG02056.hp2 HG03041.hp1 HG03471.hp1 NA18955.hp1 NA18962.hp1 NA18979.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0032 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0032 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0078 a0001c0001t0001g0117 a0001c0001t0001g0168 others(7): Show a0001c0001t0001g0078 a0001c0001t0001g0117 a0001c0001t0001g0168 a0001c0001t0001g0195 a0001c0001t0001g0225 a0001c0001t0001g0265 a0001c0001t0001g0293 a0001c0001t0032g0320 a0001c0002t0001g0287 a0001c0003t0001g0015	10	322	0.0311	18	c.182 others(37): Show c.1825-2645_1825-2628dupGTGTGTGTGTGTGTGTGT	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	20/20			chr4	TogoVar
ABLIM2_chr4_7960327_8163813	7973075	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03209.hp2 HG03486.hp1 others(1): Show HG02257.hp2 HG03209.hp2 HG03486.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0003t0007 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0003t0007 a0001c0004t0007	a0001c0001t0001g0267 a0001c0001t0007g0132 a0001c0003t0007g0218 others(1): Show a0001c0001t0001g0267 a0001c0001t0007g0132 a0001c0003t0007g0218 a0001c0004t0007g0131	4	322	0.0124	18	c.182 others(37): Show c.1825-5990_1825-5973dupCACACACACACACACACA	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	20/20			chr4	TogoVar
ABLIM2_chr4_7960327_8163813	7980941	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG00609.hp1 others(47): Show HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG01167.hp1 HG01243.hp2 HG01261.hp2 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02056.hp1 HG02135.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp1 HG03225.hp2 HG03540.hp1 HG03688.hp2 HG03704.hp1 NA18952.hp1 NA18970.hp2 NA18973.hp2 NA18979.hp1 NA18985.hp2 NA18994.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19043.hp2 NA19066.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0018 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0019 a0001c0003t0001 a0001c0003t0002 a0001c0003t0009 a0001c0003t0023 a0001c0004t0002	a0001c0001t0001g0017 a0001c0001t0001g0061 a0001c0001t0001g0135 others(47): Show a0001c0001t0001g0017 a0001c0001t0001g0061 a0001c0001t0001g0135 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0192 a0001c0001t0001g0228 a0001c0001t0001g0247 a0001c0001t0001g0282 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0002g0011 a0001c0001t0002g0057 a0001c0001t0002g0071 a0001c0001t0002g0206 a0001c0001t0002g0222 a0001c0001t0002g0284 a0001c0001t0003g0054 a0001c0001t0003g0103 a0001c0001t0003g0121 a0001c0001t0003g0201 a0001c0001t0003g0256 a0001c0001t0003g0301 a0001c0001t0003g0317 a0001c0001t0004g0138 a0001c0001t0004g0208 a0001c0001t0005g0207 a0001c0001t0005g0294 a0001c0001t0006g0210 a0001c0001t0009g0235 a0001c0001t0011g0271 a0001c0001t0016g0233 a0001c0001t0018g0001 a0001c0002t0001g0183 a0001c0002t0001g0202 a0001c0002t0001g0251 a0001c0002t0003g0031 a0001c0002t0003g0049 a0001c0002t0004g0007 a0001c0002t0005g0053 a0001c0002t0008g0100 a0001c0002t0019g0003 a0001c0003t0001g0214 a0001c0003t0002g0025 a0001c0003t0009g0211 a0001c0003t0009g0223 a0001c0003t0023g0039 a0001c0004t0002g0040	50	322	0.1553	18	c.182 others(37): Show c.1824+2305_1824+2322dupAAAAAAAAAAAAAAAAAA	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	20/20			chr4	TogoVar
ABLIM2_chr4_7960327_8163813	8132090	C C	CGTGGGGT others(11): Show CGTGGGGTGTGGTGTACTA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0045 a0001c0002t0003g0045	1	322	0.0031	18	c.11- others(35): Show c.11-25471_11-25454dupTAGTACACCACACCCCAC	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	1/20			chr4	TogoVar
ABLIM2_chr4_7960327_8163813	8148603	G G	GCAGTGCA others(11): Show GCAGTGCAGGGCCCCAGCA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp1 HG01099.hp2 others(61): Show HG00738.hp2 HG01081.hp1 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01516.hp1 HG01884.hp2 HG02055.hp1 HG02056.hp1 HG02109.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18950.hp2 NA19000.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0030 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0024 a0001c0003t0002 a0001c0003t0004 a0001c0003t0006 a0001c0003t0007 a0001c0003t0021 a0001c0004t0001 a0001c0004t0003 a0002c0005t0002	a0001c0001t0001g0042 a0001c0001t0001g0098 a0001c0001t0001g0108 others(61): Show a0001c0001t0001g0042 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0001g0162 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0243 a0001c0001t0001g0250 a0001c0001t0001g0267 a0001c0001t0001g0304 a0001c0001t0002g0024 a0001c0001t0002g0032 a0001c0001t0002g0057 a0001c0001t0002g0067 a0001c0001t0002g0177 a0001c0001t0002g0206 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0283 a0001c0001t0003g0012 a0001c0001t0003g0054 a0001c0001t0003g0197 a0001c0001t0004g0204 a0001c0001t0005g0207 a0001c0001t0005g0294 a0001c0001t0006g0216 a0001c0001t0007g0112 a0001c0001t0007g0132 a0001c0001t0007g0232 a0001c0001t0007g0308 a0001c0001t0009g0212 a0001c0001t0009g0235 a0001c0001t0010g0005 a0001c0001t0010g0215 a0001c0001t0010g0302 a0001c0001t0012g0008 a0001c0001t0012g0253 a0001c0001t0014g0038 a0001c0001t0016g0111 a0001c0001t0018g0001 a0001c0001t0030g0099 a0001c0002t0001g0083 a0001c0002t0001g0088 a0001c0002t0001g0156 a0001c0002t0001g0259 a0001c0002t0002g0194 a0001c0002t0002g0299 a0001c0002t0003g0026 a0001c0002t0003g0043 a0001c0002t0003g0159 a0001c0002t0024g0136 a0001c0003t0002g0025 a0001c0003t0002g0081 a0001c0003t0002g0090 a0001c0003t0004g0036 a0001c0003t0006g0106 a0001c0003t0006g0155 a0001c0003t0007g0218 a0001c0003t0021g0004 a0001c0004t0001g0069 a0001c0004t0003g0016 a0002c0005t0002g0096 a0002c0005t0002g0097	64	322	0.1988	18	c.10+ others(35): Show c.10+10076_10+10077insTGCTGGGGCCCTGCACTG	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	1/20			chr4	TogoVar
ABLIM3_chr5_149136493_149265542	149147069	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18977.hp2 HG03017.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0190 a0001c0001t0001g0191	2	258	0.0078	18	c.13+ others(33): Show c.13+4964_13+4981dupTCTCTCTCTCTCTCTCTC	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABLIM3_chr5_149136493_149265542	149170228	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18522.hp2 HG03688.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0005 a0001c0001t0006 a0001c0002t0005	a0001c0001t0006g0094 a0001c0002t0005g0217 a0001c0001t0006g0094 a0001c0002t0005g0217	2	258	0.0078	18	c.14- others(35): Show c.14-13205_14-13188dupTCTCTCTCTCTCTCTCTC	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABRAXAS1_chr4_83454517_83490100	83465299	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0187 a0002c0002t0001g0187	1	356	0.0028	18	c.682 others(35): Show c.682-1709_682-1692dupTTTTTTTTTTTTTTTTTT	ABRAXAS1	ENSG00000163322.14	transcript	ENST00000321945.12	protein_coding	7/8			chr4	TogoVar
ABRAXAS1_chr4_83454517_83490100	83485143	C C	CGAGGCGG others(11): Show CGAGGCGGGGCCCAGCGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	356	0.0028	18	c.-89 others(25): Show c.-89_-72dupCTCGCTGGGCCCCGCCTC	ABRAXAS1	ENSG00000163322.14	transcript	ENST00000321945.12	protein_coding		44		chr4	TogoVar
ABR_chr17_998519_1184981	999323	C C	CTATATAT others(11): Show CTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0154 a0001c0001t0046g0154	1	337	0.0030	18	c.67 others(29): Show c.6739_*6756dupTATATATATATATATATA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding		4195		chr17	TogoVar
ABR_chr17_998519_1184981	1022106	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03017.hp1 NA18967.hp2 others(1): Show HG02717.hp2 HG03017.hp1 NA18967.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0079	a0001c0001t0002g0088 a0001c0001t0006g0118 a0001c0001t0010g0321 others(1): Show a0001c0001t0002g0088 a0001c0001t0006g0118 a0001c0001t0010g0321 a0001c0001t0079g0267	4	337	0.0119	18	c.179 others(37): Show c.1792-8960_1792-8943dupTTTTTTTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1023069	T T	TCTGCCGG others(11): Show TCTGCCGGCCCCACGTCCA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0118 a0001c0001t0006g0118	1	337	0.0030	18	c.179 others(37): Show c.1792-9923_1792-9906dupTGGACGTGGGGCCGGCAG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1024024	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0091 a0001c0001t0067g0091	1	337	0.0030	18	c.179 others(39): Show c.1792-10878_1792-10861dupTTTTTTTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1079788	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0290 a0001c0001t0004g0290	1	337	0.0030	18	c.640 others(33): Show c.640-416_640-399dupTTTTTTTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	5/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143038	T T	TTCCTGGG others(11): Show TTCCTGGGGGGCAGCTCGC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0116 a0001c0001t0029g0116	1	337	0.0030	18	c.62- others(35): Show c.62-17689_62-17672dupGCGAGCTGCCCCCCAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143264	A A	ACAGCTCG others(11): Show ACAGCTCGCTCCTGGGGGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0116 a0001c0001t0029g0116	1	337	0.0030	18	c.62- others(35): Show c.62-17898_62-17897insCCCCCCAGGAGCGAGCTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1143362	C C	CTCCTGGG others(11): Show CTCCTGGGGGGCAGCTCAT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0265 a0001c0001t0015g0265	1	337	0.0030	18	c.62- others(35): Show c.62-17996_62-17995insATGAGCTGCCCCCCAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABT1_chr6_26591953_26605739	26604864	T T	TCTCTCTC others(11): Show TCTCTCTCAACAACACAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	410	0.0024	18	c.62 others(29): Show c.6219_*6220insCTCTCTCAACAACACAAC	ABT1	ENSG00000146109.5	transcript	ENST00000274849.3	protein_coding		4126		chr6	TogoVar
ABTB2_chr11_34145987_34363010	34214139	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02109.hp2 HG02145.hp1 others(3): Show HG01256.hp2 HG02109.hp2 HG02145.hp1 HG02451.hp2 HG02723.hp1 HG03540.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0006 a0001c0001 a0001c0004 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 a0001c0004t0009 a0004c0006t0012	a0001c0001t0001g0036 a0001c0001t0001g0093 a0001c0001t0003g0186 others(3): Show a0001c0001t0001g0036 a0001c0001t0001g0093 a0001c0001t0003g0186 a0001c0004t0003g0175 a0001c0004t0009g0139 a0004c0006t0012g0237	6	246	0.0244	18	c.884 others(35): Show c.884-9467_884-9450dupGTGTGTGTGTGTGTGTGT	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB2_chr11_34145987_34363010	34270847	C C	CTTCGTTT others(11): Show CTTCGTTTTTTTAAAGAGT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0238 a0002c0002t0002g0238	1	246	0.0041	18	c.884 others(37): Show c.884-66175_884-66158dupACTCTTTAAAAAAACGAA	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	1/16			chr11	TogoVar
ABTB3_chr12_107313434_107664642	107481883	G G	GTCTCTCT others(11): Show GTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01496.hp2 HG02622.hp1 others(2): Show HG01257.hp2 HG01496.hp2 HG02622.hp1 HG03453.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0003 a0001c0012 a0002c0009 others(2): Show a0001c0003 a0001c0012 a0002c0009 a0003c0004 a0004c0005	a0001c0003t0002 a0001c0012t0004 a0002c0009t0003 others(2): Show a0001c0003t0002 a0001c0012t0004 a0002c0009t0003 a0003c0004t0011 a0004c0005t0008	a0001c0003t0002g0146 a0001c0012t0004g0039 a0002c0009t0003g0065 others(2): Show a0001c0003t0002g0146 a0001c0012t0004g0039 a0002c0009t0003g0065 a0003c0004t0011g0155 a0004c0005t0008g0009	5	186	0.0269	18	c.113 others(39): Show c.1136-38576_1136-38559dupCTCTCTCTCTCTCTCTCT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107648380	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02602.hp2 HG03942.hp1 others(2): Show HG00280.hp2 HG02602.hp2 HG03942.hp1 NA18989.hp1 NA19063.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0004 a0005c0007 a0002c0002 a0003c0004 a0005c0007	a0002c0002t0003 a0002c0002t0034 a0003c0004t0003 others(1): Show a0002c0002t0003 a0002c0002t0034 a0003c0004t0003 a0005c0007t0003	a0002c0002t0003g0062 a0002c0002t0034g0115 a0003c0004t0003g0017 others(2): Show a0002c0002t0003g0062 a0002c0002t0034g0115 a0003c0004t0003g0017 a0003c0004t0003g0165 a0005c0007t0003g0119	5	186	0.0269	18	c.292 others(35): Show c.2923-809_2923-792dupCACACACACACACACACA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr12	TogoVar

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