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
BSPH1_chr19_47963046_47997170	47969684	G G	GGAGAGAG others(19): Show GGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03492.hp1 HG03688.hp1 others(2): Show HG02735.hp1 HG03492.hp1 HG03688.hp1 HG04204.hp1 NA18948.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0093 a0001c0001t0001g0316 a0001c0001t0001g0333 others(2): Show a0001c0001t0001g0093 a0001c0001t0001g0316 a0001c0001t0001g0333 a0002c0002t0001g0039 a0002c0002t0001g0062	5	444	0.0113	26	c.3- others(41): Show c.3-1501_*3-1476dupTCTCTCTCTCTCTCTCTCTCTCTCTC	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	5/5			chr19	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATACACA others(19): Show TATACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	412	0.0024	26	c.-49 others(37): Show c.-4955_-4954insGTGTGTGTGTGTGTGTGTGTGTGTAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4900		chr19	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATATACA others(19): Show TATATACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	412	0.0024	26	c.-49 others(37): Show c.-4955_-4954insGTGTGTGTGTGTGTGTGTGTGTATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4900		chr19	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATATATA others(19): Show TATATATACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	412	0.0024	26	c.-49 others(37): Show c.-4955_-4954insGTGTGTGTGTGTGTGTGTGTATATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4900		chr19	TogoVar
BST2_chr19_17397939_17410630	17410529	T T	TATATATA others(19): Show TATATATATATATATACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 NA20300.hp1 HG02451.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	2	412	0.0049	26	c.-49 others(37): Show c.-4955_-4954insGTGTGTGTGTGTATATATATATATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4900		chr19	TogoVar
BST2_chr19_17397939_17410630	17410541	T T	TATATATA others(19): Show TATATATACATACATATATATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01496.hp1 HG00280.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0010 a0001c0002t0006g0010	2	412	0.0049	26	c.-49 others(37): Show c.-4967_-4966insGTATGTATATATATGTATGTATATAT	BST2	ENSG00000130303.14	transcript	ENST00000252593.7	protein_coding		4912		chr19	TogoVar
BTAF1_chr10_91918770_92036437	91936406	A A	AGGGGAGC others(19): Show AGGGGAGCAATATGATTGCCCAGATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00609.hp1 others(140): Show HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp2 HG01952.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02074.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18978.hp1 NA18979.hp1 NA18983.hp1 NA18985.hp1 NA18987.hp1 NA18989.hp1 NA18992.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19009.hp1 NA19011.hp2 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19064.hp2 NA19085.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0012	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 others(6): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0010t0001 a0001c0012t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(139): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0009g0020 a0001c0001t0012g0113 a0001c0002t0001g0132 a0001c0002t0001g0139 a0001c0002t0001g0160 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0135 a0001c0004t0001g0046 a0001c0004t0001g0047 a0001c0004t0001g0076 a0001c0006t0001g0001 a0001c0010t0001g0002 a0001c0012t0001g0121	143	330	0.4333	26	c.138 others(41): Show c.138+627_138+652dupGGGGAGCAATATGATTGCCCAGATAT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	91991265	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01123.hp1 HG02083.hp2 others(1): Show HG01099.hp1 HG01123.hp1 HG02083.hp2 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0252 a0001c0001t0002g0281 others(1): Show a0001c0001t0002g0246 a0001c0001t0002g0252 a0001c0001t0002g0281 a0001c0001t0002g0289	4	330	0.0121	26	c.285 others(43): Show c.2855-849_2855-848insTATATATATATATATATATATATATA	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	91991279	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp1 HG01123.hp2 others(15): Show HG01069.hp2 HG01070.hp1 HG01123.hp2 HG01169.hp1 HG01943.hp1 HG02040.hp2 HG02074.hp2 HG02132.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02602.hp2 HG03239.hp2 HG03831.hp2 NA18963.hp2 NA18979.hp2 NA19054.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0003 a0002c0005t0003 a0001c0001t0003 a0002c0005t0003	a0001c0001t0003g0161 a0001c0001t0003g0177 a0001c0001t0003g0179 others(15): Show a0001c0001t0003g0161 a0001c0001t0003g0177 a0001c0001t0003g0179 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0202 a0001c0001t0003g0206 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0216 a0001c0001t0003g0220 a0001c0001t0003g0222 a0001c0001t0003g0223 a0002c0005t0003g0186 a0002c0005t0003g0207	18	330	0.0546	26	c.285 others(43): Show c.2855-827_2855-826insTATATATATATAAATATATATATATA	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	91991832	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	330	0.0030	26	c.285 others(43): Show c.2855-286_2855-285insTATATATATATATATATATATACACA	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92032009	C C	CTTCTTTT others(19): Show CTTCTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0216	1	330	0.0030	26	c.30 others(37): Show c.3076_*3077insTTCTTTTTTTTTTTTTTTTTTTTTTT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding		573		chr10	TogoVar
BTAF1_chr10_91918770_92036437	92032009	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	330	0.0030	26	c.30 others(37): Show c.3076_*3077insTTTTTTTTTTTTTTTTTTTTTTTTTT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding		573		chr10	TogoVar
BTBD17_chr17_74351416_74366868	74365044	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG02572.hp2 HG00099.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0003 a0001c0001t0003 a0001c0004t0003	a0001c0001t0003g0009 a0001c0004t0003g0018 a0001c0001t0003g0009 a0001c0004t0003g0018	2	444	0.0045	26	c.-32 others(37): Show c.-3226_-3225insATATATATATATATATATATATATAT	BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding		3177		chr17	TogoVar
BTBD17_chr17_74351416_74366868	74365064	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	444	0.0023	26	c.-32 others(37): Show c.-3246_-3245insGTATATATATATATATATATATATAT	BTBD17	ENSG00000204347.4	transcript	ENST00000375366.4	protein_coding		3197		chr17	TogoVar
BTBD19_chr1_44803523_44820585	44814190	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0006 a0001c0001t0012g0006	1	436	0.0023	26	c.44 others(35): Show c.441_*442insCTTTTTCTTTCTTTCTTTCTTTCTTT	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding	8/8	442	INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD19_chr1_44803523_44820585	44816569	T T	TTATATAT others(19): Show TTATATATACACATAGATGTGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02293.hp2 NA18975.hp1 HG02004.hp2 HG02293.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0003g0010 a0001c0001t0005g0001 a0001c0001t0006g0010 a0001c0001t0003g0010 a0001c0001t0005g0001 a0001c0001t0006g0010	3	436	0.0069	26	c.27 others(37): Show c.2797_*2798insTATATATACACATAGATGTGTGTGTA	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		985		chr1	TogoVar
BTBD19_chr1_44803523_44820585	44816569	T T	TTATATAT others(19): Show TTATATATATACATAGATGTGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00597.hp1 others(15): Show HG00323.hp2 HG00423.hp2 HG00597.hp1 HG00642.hp1 HG01261.hp2 HG02015.hp2 HG02083.hp2 HG03017.hp1 HG03209.hp2 HG03239.hp1 HG03704.hp2 HG03942.hp2 NA18959.hp2 NA18971.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0024 a0001c0001t0025 a0001c0001t0052 a0001c0001t0057 a0001c0001t0062 a0005c0006t0060	a0001c0001t0003g0013 a0001c0001t0003g0085 a0001c0001t0004g0001 others(11): Show a0001c0001t0003g0013 a0001c0001t0003g0085 a0001c0001t0004g0001 a0001c0001t0004g0020 a0001c0001t0004g0024 a0001c0001t0005g0001 a0001c0001t0006g0001 a0001c0001t0006g0013 a0001c0001t0024g0001 a0001c0001t0025g0013 a0001c0001t0052g0001 a0001c0001t0057g0001 a0001c0001t0062g0001 a0005c0006t0060g0001	18	436	0.0413	26	c.27 others(37): Show c.2797_*2798insTATATATATACATAGATGTGTGTGTA	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		985		chr1	TogoVar
BTBD1_chr15_83011423_83072252	83032969	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19043.hp1 HG02622.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0148 a0001c0001t0001g0150	2	328	0.0061	26	c.863 others(43): Show c.863-2642_863-2641insTTTTTTTTTTTTTTTTTTTTTTTTTT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	4/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83042348	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02280.hp2 HG01928.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0237 a0001c0001t0003g0086 a0001c0001t0001g0237 a0001c0001t0003g0086	2	328	0.0061	26	c.665 others(41): Show c.665-449_665-424dupTATATATATATATATATATATATATA	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	3/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83051875	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	328	0.0031	26	c.559 others(43): Show c.559-1698_559-1697insGTGTGTGTGTGTGTGTGTGTGTGTGT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83051877	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03471.hp2 HG02055.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0151 a0001c0001t0001g0141 a0001c0001t0001g0151	2	328	0.0061	26	c.559 others(43): Show c.559-1725_559-1700dupGTGTGTGTGTGTGTGTGTGTGTGTGT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	2/7			chr15	TogoVar
BTBD2_chr19_1980448_2020714	2017817	A A	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0139 a0003c0006t0004g0139	1	364	0.0028	26	c.-21 others(37): Show c.-2115_-2114insAAAAAAAAAATATATATATATATATA	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding		2104		chr19	TogoVar
BTBD9_chr6_38163451_38644929	38328564	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0151 a0001c0001t0151	a0001c0001t0151g0103 a0001c0001t0151g0103	1	224	0.0045	26	c.126 others(47): Show c.1264+16394_1264+16419dupACACACACACACACACACACACAC AC	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	7/10			chr6	TogoVar
BTBD9_chr6_38163451_38644929	38557015	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0001 a0001c0001t0108g0001	1	224	0.0045	26	c.115 others(47): Show c.1154+20559_1154+20584dupTTTTTTTTTTTTTTTTTTTTTTTT TT	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTF3_chr5_73493442_73510667	73506800	T T	TGACTGAC others(19): Show TGACTGACAAGCTTGTGGAGAATGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02896.hp2 HG02897.hp1 others(1): Show HG02258.hp2 HG02896.hp2 HG02897.hp1 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	4	408	0.0098	26	c.15 others(37): Show c.1562_*1563insGACTGACAAGCTTGTGGAGAATGCCA	BTF3	ENSG00000145741.17	transcript	ENST00000380591.8	protein_coding		1134		chr5	TogoVar
BTNL3_chr5_180983846_181011727	181002471	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp2 HG02970.hp2 others(2): Show HG01891.hp1 HG02572.hp2 HG02970.hp2 HG03041.hp2 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0002t0001 a0004c0005t0001 a0001c0001t0001 a0001c0002t0001 a0004c0005t0001	a0001c0001t0001g0058 a0001c0002t0001g0027 a0004c0005t0001g0047 others(1): Show a0001c0001t0001g0058 a0001c0002t0001g0027 a0004c0005t0001g0047 a0004c0005t0001g0048	5	206	0.0243	26	c.674 others(41): Show c.674-192_674-167dupATATATATATATATATATATATATAT	BTNL3	ENSG00000168903.9	transcript	ENST00000342868.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
BTRC_chr10_101349165_101562313	101366784	A A	ATTTTTAT others(19): Show ATTTTTATATTTATATATATATTTATG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0009 a0001c0001t0012g0009	1	266	0.0038	26	c.48+ others(43): Show c.48+12557_48+12558insTTTTATATTTATATATATATTTATGT	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTRC_chr10_101349165_101562313	101387528	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00140.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0217 a0001c0001t0004g0255 a0001c0001t0002g0217 a0001c0001t0004g0255	2	266	0.0075	26	c.48+ others(43): Show c.48+33318_48+33319insTTTTTTTTTTTTTTTTTTTTTTTTTT	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTRC_chr10_101349165_101562313	101442262	A A	ATCTCTCT others(19): Show ATCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0033 a0001c0002t0008g0033	1	266	0.0038	26	c.156 others(45): Show c.156+11831_156+11832insCTCTCTCTCTCTCTCTCTCTCTCTCT	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTRC_chr10_101349165_101562313	101455981	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	266	0.0038	26	c.157 others(43): Show c.157-5999_157-5998insCACACACACACACACACACACACACA	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTRC_chr10_101349165_101562313	101455983	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00733.hp2 HG01109.hp1 others(16): Show HG00438.hp1 HG00733.hp2 HG01109.hp1 HG01192.hp2 HG01517.hp1 HG01952.hp1 HG02273.hp2 HG02630.hp2 HG02698.hp2 HG02723.hp2 HG02886.hp1 HG03041.hp1 HG03540.hp2 NA18964.hp1 NA18971.hp1 NA18982.hp1 NA18984.hp1 NA19064.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012	a0001c0001t0002g0035 a0001c0001t0002g0042 a0001c0001t0002g0051 others(16): Show a0001c0001t0002g0035 a0001c0001t0002g0042 a0001c0001t0002g0051 a0001c0001t0002g0063 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0003g0258 a0001c0001t0004g0172 a0001c0001t0004g0204 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0005g0261 a0001c0001t0006g0056 a0001c0001t0007g0012 a0001c0001t0007g0013 a0001c0001t0012g0009	19	266	0.0714	26	c.157 others(43): Show c.157-5988_157-5963dupCACACACACACACACACACACACACA	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTRC_chr10_101349165_101562313	101475922	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0138 a0002c0003t0001g0138	1	266	0.0038	26	c.235 others(43): Show c.235-3439_235-3414dupATATATATATATATATATATATATAT	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTRC_chr10_101349165_101562313	101475953	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	266	0.0038	26	c.235 others(43): Show c.235-3414_235-3413insATATATATATATATATATATATATTT	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTRC_chr10_101349165_101562313	101522409	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG02622.hp1 HG01515.hp1 HG01517.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0244 a0001c0001t0003g0247 a0001c0001t0004g0191 a0001c0001t0003g0244 a0001c0001t0003g0247 a0001c0001t0004g0191	3	266	0.0113	26	c.556 others(41): Show c.556+542_556+567dupTTTTTTTTTTTTTTTTTTTTTTTTTT	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
BUB3_chr10_123149402_123175467	123156753	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03491.hp1 HG00738.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0081 a0001c0001t0005 a0001c0001t0081	a0001c0001t0005g0019 a0001c0001t0081g0019 a0001c0001t0005g0019 a0001c0001t0081g0019	2	418	0.0048	26	c.266 others(41): Show c.266-965_266-964insTTTTTTTTTTTTTTTTTTTTTTTTTT	BUB3	ENSG00000154473.18	transcript	ENST00000368865.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
BVES_chr6_105091822_105142157	105109763	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG04115.hp1 HG02080.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0163 a0001c0001t0001g0132 a0001c0001t0001g0163	2	232	0.0086	26	c.958 others(43): Show c.958+5922_958+5923insTTTTTTTTTTTTTTTTTTTTTTTTTT	BVES	ENSG00000112276.14	transcript	ENST00000314641.10	protein_coding	7/7			chr6	TogoVar
BZW2_chr7_16641181_16711517	16656137	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0281 a0001c0002t0003g0281	1	418	0.0024	26	c.-7- others(41): Show c.-7-9286_-7-9285insTATATATATATATATATATATATATA	BZW2	ENSG00000136261.16	transcript	ENST00000258761.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
BZW2_chr7_16641181_16711517	16656150	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	418	0.0024	26	c.-7- others(41): Show c.-7-9286_-7-9285insTATATATATATATATATATATATACA	BZW2	ENSG00000136261.16	transcript	ENST00000258761.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
C10orf67_chr10_23197696_23349797	23323952	T T	TATATATA others(19): Show TATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	326	0.0031	26	c.328 others(43): Show c.328-1416_328-1415insGTGTGTGTATATATATATATATATAT	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	2/15			chr10	TogoVar
C10orf67_chr10_23197696_23349797	23323952	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	326	0.0031	26	c.328 others(43): Show c.328-1416_328-1415insGTGTGTATATATATATATATATATAT	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	2/15			chr10	TogoVar
C10orf71_chr10_49294170_49332492	49326924	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0032 a0002c0001t0032	a0002c0001t0032g0001 a0002c0001t0032g0001	1	424	0.0024	26	c.84 others(34): Show c.84_*109dupACACACACACACACACACACACACAC	C10orf71	ENSG00000177354.12	transcript	ENST00000374144.8	protein_coding	3/3	110	INFO_REALIGN_3_PRIME	chr10	TogoVar
C10orf90_chr10_126419997_126675693	126442478	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01099.hp1 HG01257.hp1 others(23): Show HG01069.hp1 HG01099.hp1 HG01257.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp2 HG02293.hp1 HG02300.hp1 HG02559.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03654.hp2 HG03831.hp2 NA18971.hp1 NA18975.hp1 NA19000.hp1 NA19002.hp1 NA19060.hp1 NA19065.hp2 NA19086.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011 a0016	a0001c0001 a0001c0009 a0002c0003 others(9): Show a0001c0001 a0001c0009 a0002c0003 a0002c0004 a0003c0002 a0003c0022 a0004c0005 a0005c0006 a0006c0007 a0007c0010 a0011c0020 a0016c0029	a0001c0001t0001 a0001c0001t0003 a0001c0009t0001 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0009t0001 a0002c0003t0001 a0002c0004t0001 a0002c0004t0003 a0003c0002t0001 a0003c0002t0002 a0003c0002t0004 a0003c0022t0003 a0004c0005t0001 a0004c0005t0002 a0005c0006t0003 a0006c0007t0003 a0007c0010t0001 a0007c0010t0003 a0011c0020t0002 a0016c0029t0001	a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0070 others(23): Show a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0193 a0001c0001t0003g0100 a0001c0001t0003g0143 a0001c0009t0001g0077 a0002c0003t0001g0048 a0002c0004t0001g0059 a0002c0004t0003g0126 a0003c0002t0001g0103 a0003c0002t0001g0196 a0003c0002t0002g0041 a0003c0002t0002g0188 a0003c0002t0004g0084 a0003c0022t0003g0156 a0004c0005t0001g0060 a0004c0005t0002g0190 a0004c0005t0002g0191 a0005c0006t0003g0102 a0006c0007t0003g0146 a0007c0010t0001g0164 a0007c0010t0003g0154 a0011c0020t0002g0096 a0016c0029t0001g0218	26	218	0.1193	26	c.218 others(47): Show c.2189-12654_2189-12629dupATATATATATATATATATATATAT AT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	7/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126442487	A A	ATATATAT others(19): Show ATATATATATATATATATATCTATATC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0005 a0004c0024t0005	a0004c0024t0005g0003 a0004c0024t0005g0003	1	218	0.0046	26	c.218 others(47): Show c.2189-12638_2189-12637insGATATAGATATATATATATATATA TA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	7/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126532842	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01978.hp1 HG02683.hp1 others(2): Show HG00544.hp1 HG01978.hp1 HG02683.hp1 NA19010.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0003c0022 a0001c0001 a0003c0002 a0003c0022	a0001c0001t0001 a0003c0002t0001 a0003c0002t0002 others(1): Show a0001c0001t0001 a0003c0002t0001 a0003c0002t0002 a0003c0022t0003	a0001c0001t0001g0015 a0003c0002t0001g0056 a0003c0002t0001g0092 others(2): Show a0001c0001t0001g0015 a0003c0002t0001g0056 a0003c0002t0001g0092 a0003c0002t0002g0034 a0003c0022t0003g0156	5	218	0.0229	26	c.314 others(45): Show c.314-18904_314-18903insTTTTTTTTTTTTTTTTTTTTTTTTTT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126565162	T T	TTATATTA others(19): Show TTATATTACATATTATGTAATATAATA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0067 a0001c0008t0001g0067	1	218	0.0046	26	c.314 others(45): Show c.314-51224_314-51223insTATTATATTACATAATATGTAATATA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C11orf71_chr11_114393532_114405511	114394228	C C	CTTTTCTT others(19): Show CTTTTCTTTTCTTTTCTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	422	0.0024	26	c.57 others(37): Show c.5731_*5732insAGAAAAGAAAAGAAAAGAAAAGAAAA	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding		4303		chr11	TogoVar
C12orf40_chr12_39621183_39726914	39711332	C C	CACATATA others(19): Show CACATATATACATCTATATGTATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG01168.hp1 others(3): Show HG00639.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp2 HG02735.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0056 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0056 a0001c0001t0001g0076 a0001c0001t0001g0077	6	360	0.0167	26	c.141 others(45): Show c.1412-5412_1412-5387dupTCTATATGTATATATACATATATACA	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf40_chr12_39621183_39726914	39712397	T T	TGTATATA others(19): Show TGTATATATACATACGTATATACATAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA19063.hp1 HG03927.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0203 a0001c0001t0001g0046 a0001c0001t0001g0203	2	360	0.0056	26	c.141 others(45): Show c.1412-4338_1412-4313dupACATACGTATATATACATACGTATAT	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf40_chr12_39621183_39726914	39712670	T T	TGTGTATA others(19): Show TGTGTATATATGTATATATACGTATAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	360	0.0028	26	c.141 others(45): Show c.1412-4068_1412-4043dupTACGTATACGTGTATATATGTATATA	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf40_chr12_39621183_39726914	39713221	T T	TACACATA others(19): Show TACACATATACGTGTATATATGGGTAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	360	0.0028	26	c.141 others(45): Show c.1412-3514_1412-3513insGGTACACACATATACGTGTATATATG	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar

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