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
B3GNTL1_chr17_82937149_83056770	82969565	A A	AGGGGGGG others(18): Show AGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0210 a0001c0003t0009g0210	1	266	0.0038	25	c.460 others(42): Show c.460-3820_460-3819insCCCCCCCCCCCCCCCCCCCCCCCCC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B4GALNT3_chr12_454939_568509	500865	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01361.hp2 HG01891.hp2 others(9): Show HG01106.hp1 HG01361.hp2 HG01891.hp2 HG01943.hp2 HG02004.hp1 HG02145.hp1 HG02293.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG03239.hp2 NA18963.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0010 others(5): Show a0001c0001 a0001c0002 a0001c0010 a0002c0003 a0004c0005 a0004c0027 a0006c0007 a0006c0020	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(8): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0016 a0001c0002t0002 a0001c0010t0002 a0002c0003t0005 a0004c0005t0001 a0004c0027t0078 a0006c0007t0079 a0006c0020t0002	a0001c0001t0001g0033 a0001c0001t0006g0065 a0001c0001t0009g0117 others(9): Show a0001c0001t0001g0033 a0001c0001t0006g0065 a0001c0001t0009g0117 a0001c0001t0016g0179 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0010t0002g0118 a0002c0003t0005g0361 a0004c0005t0001g0366 a0004c0027t0078g0276 a0006c0007t0079g0231 a0006c0020t0002g0275	12	394	0.0305	25	c.170 others(44): Show c.170-34281_170-34280insTTTTTTTTTTTTTTTTTTTTTTTTT	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	511879	C C	CTTCCACC others(18): Show CTTCCACCTTCCACCTTCCGCCTTCG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03209.hp1 HG02723.hp1 HG03209.hp1	a0001 a0006 a0001 a0006	a0001c0048 a0006c0007 a0001c0048 a0006c0007	a0001c0048t0044 a0006c0007t0065 a0001c0048t0044 a0006c0007t0065	a0001c0048t0044g0394 a0006c0007t0065g0206 a0001c0048t0044g0394 a0006c0007t0065g0206	2	394	0.0051	25	c.170 others(44): Show c.170-23287_170-23286insTTCCACCTTCCACCTTCCGCCTTCG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19			chr12	TogoVar
B4GALNT3_chr12_454939_568509	511884	T T	TCTTCCAC others(18): Show TCTTCCACCTTCCACCTTCCACCTTC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02055.hp1 HG02647.hp1 others(3): Show HG01952.hp2 HG02055.hp1 HG02647.hp1 HG02896.hp2 HG02897.hp1 HG03486.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0007	a0001c0001 a0003c0004 a0006c0007 others(1): Show a0001c0001 a0003c0004 a0006c0007 a0007c0008	a0001c0001t0022 a0003c0004t0029 a0003c0004t0086 others(2): Show a0001c0001t0022 a0003c0004t0029 a0003c0004t0086 a0006c0007t0079 a0007c0008t0002	a0001c0001t0022g0036 a0001c0001t0022g0037 a0003c0004t0029g0300 others(3): Show a0001c0001t0022g0036 a0001c0001t0022g0037 a0003c0004t0029g0300 a0003c0004t0086g0302 a0006c0007t0079g0231 a0007c0008t0002g0004	6	394	0.0152	25	c.170 others(44): Show c.170-23263_170-23262insACCTTCCTTCCACCTTCCACCTTCC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	369333	C C	CGCCTCCC others(18): Show CGCCTCCCCTCGCCCCGCCTCCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(43): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG01070.hp2 HG01071.hp2 HG01255.hp2 HG01358.hp2 HG01361.hp2 HG01943.hp1 HG01978.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02300.hp1 HG02559.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02886.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03927.hp1 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18952.hp1 NA18963.hp2 NA18970.hp1 NA18970.hp2 NA19005.hp1 NA19057.hp1 NA19087.hp2 NA19088.hp1 NA20805.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0012 a0018 a0022	a0001c0001 a0001c0003 a0001c0023 others(11): Show a0001c0001 a0001c0003 a0001c0023 a0002c0002 a0002c0007 a0002c0008 a0002c0032 a0003c0006 a0004c0012 a0005c0009 a0006c0010 a0012c0016 a0018c0026 a0022c0029	a0001c0001t0001 a0001c0003t0002 a0001c0003t0004 others(14): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0004 a0001c0023t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0002c0007t0001 a0002c0008t0001 a0002c0032t0001 a0003c0006t0001 a0004c0012t0002 a0005c0009t0001 a0006c0010t0001 a0012c0016t0001 a0018c0026t0004 a0022c0029t0001	a0001c0001t0001g0060 a0001c0001t0001g0080 a0001c0001t0001g0095 others(43): Show a0001c0001t0001g0060 a0001c0001t0001g0080 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0003t0002g0169 a0001c0003t0004g0011 a0001c0003t0004g0014 a0001c0023t0002g0041 a0002c0002t0001g0106 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0122 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0137 a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0154 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0003g0140 a0002c0002t0006g0153 a0002c0007t0001g0132 a0002c0007t0001g0136 a0002c0008t0001g0181 a0002c0032t0001g0121 a0003c0006t0001g0102 a0004c0012t0002g0022 a0005c0009t0001g0118 a0005c0009t0001g0138 a0006c0010t0001g0045 a0012c0016t0001g0108 a0018c0026t0004g0042 a0022c0029t0001g0135	46	184	0.2500	25	c.-47 others(34): Show c.-471_-470insGCCTCCCCTCGCCCCGCCTCCTCCG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		165		chr11	TogoVar
B4GALNT4_chr11_364499_387117	374865	G G	GAGGAGGA others(18): Show GAGGAGGAAGGAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0043 a0006c0010t0001g0043	1	184	0.0054	25	c.784 others(40): Show c.784-593_784-592insAGGAAGGAGGGAGGGAGGAGGAAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALT1_chr9_33105642_33172336	33157063	T T	TCACACAC others(18): Show TCACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	366	0.0027	25	c.412 others(42): Show c.412+9694_412+9695insGTGTGTGTGTGTGTGTGTGTGTGTG	B4GALT1	ENSG00000086062.13	transcript	ENST00000379731.5	protein_coding	1/5			chr9	TogoVar
B4GALT7_chr5_177595132_177615330	177607161	G G	GAGGGACT others(18): Show GAGGGACTGCCCCACAGGCTGAGTGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0147 a0001c0010t0001g0147	1	458	0.0022	25	c.414 others(40): Show c.414-138_414-114dupGGACTGCCCCACAGGCTGAGTGAAG	B4GALT7	ENSG00000027847.14	transcript	ENST00000029410.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
B4GALT7_chr5_177595132_177615330	177607161	G G	GAGGGACT others(18): Show GAGGGACTGCCTCACAGGCTGAGTGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	458	0.0022	25	c.414 others(40): Show c.414-131_414-130insTCACAGGCTGAGTGAAGGGACTGCC	B4GALT7	ENSG00000027847.14	transcript	ENST00000029410.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
BABAM2_chr2_27885729_28343901	28040294	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	158	0.0063	25	c.496 others(42): Show c.496-5407_496-5406insTTTTTTTTTTTTTTTTTTTTTTTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28176569	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18955.hp1 HG02970.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0109 a0001c0001t0002g0149 a0001c0001t0001g0109 a0001c0001t0002g0149	2	158	0.0127	25	c.680 others(44): Show c.680+47192_680+47216dupAAAAAAAAAAAAAAAAAAAAAAAAA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BABAM2_chr2_27885729_28343901	28196321	C C	CGTCTCAA others(18): Show CGTCTCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0136 a0001c0001t0003g0136	1	158	0.0063	25	c.681 others(44): Show c.681-40881_681-40880insGTCTCAAAAAAAAAAAAAAAAAAAA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11			chr2	TogoVar
BACE2_chr21_41163160_41287530	41174138	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02056.hp1 HG03492.hp1 others(2): Show HG01261.hp2 HG02056.hp1 HG03492.hp1 NA19011.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0002t0013 a0001c0001t0006 a0001c0002t0001 a0001c0002t0013	a0001c0001t0006g0199 a0001c0002t0001g0115 a0001c0002t0001g0197 others(2): Show a0001c0001t0006g0199 a0001c0002t0001g0115 a0001c0002t0001g0197 a0001c0002t0013g0068 a0001c0002t0013g0198	5	272	0.0184	25	c.312 others(42): Show c.312+5563_312+5564insTTTTTTTTTTTTTTTTTTTTTTTTT	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	1/8			chr21	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0105 a0005c0015t0105	a0005c0015t0105g0156 a0005c0015t0105g0156	1	194	0.0052	25	c.-16 others(44): Show c.-161-3183_-161-3182insATATATATATATTTTTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0055 a0001c0005t0006g0055	1	194	0.0052	25	c.-16 others(44): Show c.-161-3183_-161-3182insATATATATATATATTTTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19088.hp2 NA19085.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0078 a0001c0003t0009 a0001c0001t0078 a0001c0003t0009	a0001c0001t0078g0032 a0001c0003t0009g0126 a0001c0001t0078g0032 a0001c0003t0009g0126	2	194	0.0103	25	c.-16 others(44): Show c.-161-3183_-161-3182insATATATATATATATATTTTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90092291	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01175.hp2 HG01952.hp1 others(2): Show HG00642.hp1 HG01175.hp2 HG01952.hp1 NA19003.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0052 a0001c0002t0006 a0001c0003t0019 others(1): Show a0001c0001t0052 a0001c0002t0006 a0001c0003t0019 a0001c0003t0059	a0001c0001t0052g0071 a0001c0002t0006g0073 a0001c0003t0019g0072 others(2): Show a0001c0001t0052g0071 a0001c0002t0006g0073 a0001c0003t0019g0072 a0001c0003t0019g0142 a0001c0003t0059g0078	5	194	0.0258	25	c.-16 others(44): Show c.-161-3183_-161-3182insATATATATATATATATATTTTTTTT	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0094 a0001c0001t0042g0094	1	194	0.0052	25	c.-16 others(46): Show c.-161-13921_-161-13920insAAAAAAAAAAATATATATATATAT A	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BAHCC1_chr17_81390457_81471331	81432720	G G	GCCATCCC others(18): Show GCCATCCCCAGGCCCACCCTCCCCCC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02080.hp2 NA19011.hp1 others(1): Show HG01928.hp1 HG02080.hp2 NA19011.hp1 NA19011.hp2	a0003 a0005 a0003 a0005	a0003c0002 a0005c0005 a0003c0002 a0005c0005	a0003c0002t0001 a0005c0005t0008 a0003c0002t0001 a0005c0005t0008	a0003c0002t0001g0104 a0003c0002t0001g0105 a0003c0002t0001g0213 others(1): Show a0003c0002t0001g0104 a0003c0002t0001g0105 a0003c0002t0001g0213 a0005c0005t0008g0087	4	332	0.0121	25	c.359 others(42): Show c.359-5640_359-5639insGCCCACCCTCCCCCCCCATCCCCAG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81432729	A A	AGGCCCAC others(18): Show AGGCCCACCCTCCCCCCCATCCCCAG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0056 a0056	a0056c0100 a0056c0100	a0056c0100t0001 a0056c0100t0001	a0056c0100t0001g0237 a0056c0100t0001g0237	1	332	0.0030	25	c.359 others(42): Show c.359-5640_359-5639insGCCCACCCTCCCCCCCATCCCCAGG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81432815	G G	GCCCCATC others(18): Show GCCCCATCCCCAGGCCCACCCTCCCC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0177 a0002c0001t0002g0177	1	332	0.0030	25	c.359 others(42): Show c.359-5533_359-5509dupCCCCCCCCATCCCCAGGCCCACCCT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81432911	T T	TCCCCCCA others(18): Show TCCCCCCATCCCCAGGCCCAACCTCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp1 HG01071.hp2 others(7): Show HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01123.hp1 HG01255.hp2 HG01358.hp2 HG01978.hp1 HG02135.hp2 HG02273.hp2 NA20805.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0009 a0001c0012 a0002c0001 others(1): Show a0001c0009 a0001c0012 a0002c0001 a0006c0006	a0001c0009t0004 a0001c0012t0002 a0002c0001t0002 others(2): Show a0001c0009t0004 a0001c0012t0002 a0002c0001t0002 a0006c0006t0001 a0006c0006t0002	a0001c0009t0004g0117 a0001c0012t0002g0137 a0002c0001t0002g0012 others(7): Show a0001c0009t0004g0117 a0001c0012t0002g0137 a0002c0001t0002g0012 a0002c0001t0002g0130 a0006c0006t0001g0150 a0006c0006t0001g0151 a0006c0006t0001g0201 a0006c0006t0002g0153 a0006c0006t0002g0154 a0006c0006t0002g0155	10	332	0.0301	25	c.359 others(42): Show c.359-5444_359-5443insCCCAACCTCCCCCCCCATCCCCAGG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAHCC1_chr17_81390457_81471331	81432917	C C	CATCCCCA others(18): Show CATCCCCAGGCCCAACCTCCCCCCCA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0002 a0006c0020t0002	a0006c0020t0002g0022 a0006c0020t0002g0022	1	332	0.0030	25	c.359 others(42): Show c.359-5444_359-5443insCCCAACCTCCCCCCCAATCCCCAGG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02074.hp1 HG01884.hp2 HG02074.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0010 a0001c0002 a0003c0010	a0001c0002t0001 a0003c0010t0003 a0001c0002t0001 a0003c0010t0003	a0001c0002t0001g0211 a0003c0010t0003g0296 a0001c0002t0001g0211 a0003c0010t0003g0296	2	298	0.0067	25	c.128 others(42): Show c.128-1893_128-1892insATATATATATATATATTTTTTTTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0130 a0001c0008t0002g0130	1	298	0.0034	25	c.128 others(42): Show c.128-1893_128-1892insATATATATATATATATATTTTTTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0208 a0001c0002t0001g0208	1	298	0.0034	25	c.128 others(42): Show c.128-1893_128-1892insATATATATATATATATATATTTTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0187 a0002c0006t0001g0187	1	298	0.0034	25	c.128 others(42): Show c.128-1893_128-1892insATATATATATATATATATATATTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2_chr17_81030151_81122434	81055569	G G	GGTTTTTT others(18): Show GGTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01943.hp1 others(13): Show HG01070.hp2 HG01071.hp2 HG01943.hp1 HG02004.hp1 HG02080.hp1 HG03491.hp1 HG03831.hp1 NA18612.hp2 NA18943.hp2 NA18952.hp2 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18982.hp1 NA19079.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0002c0002t0002	a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0048 others(13): Show a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0048 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0254 a0001c0001t0009g0054 a0002c0002t0002g0021 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0002t0002g0259 a0002c0002t0002g0268	16	376	0.0426	25	c.130 others(42): Show c.130+1826_130+1827insGTTTTTTTTTTTTTTTTTTTTTTTT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13			chr17	TogoVar
BAMBI_chr10_28672521_28687932	28683987	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG00733.hp1 others(6): Show HG00558.hp1 HG00621.hp2 HG00733.hp1 HG01168.hp1 HG02083.hp2 HG02735.hp2 HG03139.hp2 NA18944.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015	a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0010 others(2): Show a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0010 a0001c0001t0004g0007 a0001c0001t0015g0013	9	436	0.0206	25	c.15 others(36): Show c.1586_*1587insAAAAAAAAAAAAAAAAAAAAAAAAA	BAMBI	ENSG00000095739.11	transcript	ENST00000375533.6	protein_coding		1056		chr10	TogoVar
BANF2_chr20_17694966_17740871	17740061	A A	ACCTTGCT others(18): Show ACCTTGCTGAGCCTCTGTCTCCTCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03139.hp1 HG01891.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0026 a0001c0003t0002g0097 a0001c0003t0002g0026 a0001c0003t0002g0097	2	400	0.0050	25	c.42 others(36): Show c.4250_*4251insCCTTGCTGAGCCTCTGTCTCCTCAT	BANF2	ENSG00000125888.15	transcript	ENST00000246090.6	protein_coding		4191		chr20	TogoVar
BANK1_chr4_101785730_102079812	102007070	A A	ATATATAT others(18): Show ATATATATAAATATATATAATATATT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01496.hp2 HG02300.hp2 others(2): Show HG00741.hp2 HG01496.hp2 HG02300.hp2 HG02630.hp1 HG03471.hp2	a0003 a0005 a0003 a0005	a0003c0004 a0005c0006 a0003c0004 a0005c0006	a0003c0004t0001 a0005c0006t0001 a0005c0006t0003 a0003c0004t0001 a0005c0006t0001 a0005c0006t0003	a0003c0004t0001g0260 a0003c0004t0001g0261 a0003c0004t0001g0262 others(2): Show a0003c0004t0001g0260 a0003c0004t0001g0261 a0003c0004t0001g0262 a0005c0006t0001g0280 a0005c0006t0003g0279	5	284	0.0176	25	c.120 others(46): Show c.1207-14436_1207-14435insAATATATATAATATATTTATATAT A	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANP_chr16_87946434_88082316	88010914	G G	GCATTTAG others(18): Show GCATTTAGCTACAAACATGCCTCGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(287): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(24): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0014 a0001c0016 a0001c0017 a0001c0022 a0001c0023 a0001c0027 a0001c0032 a0001c0033 a0002c0003 a0002c0013 a0002c0015 a0002c0018 a0002c0019 a0002c0021 a0002c0024 a0002c0025 a0002c0028 a0002c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0011 a0001c0005t0003 a0001c0005t0005 a0001c0006t0002 a0001c0007t0001 a0001c0007t0002 a0001c0009t0001 a0001c0009t0005 a0001c0010t0007 a0001c0011t0001 a0001c0011t0003 a0001c0011t0005 a0001c0012t0001 a0001c0014t0001 a0001c0014t0019 a0001c0016t0003 a0001c0017t0001 a0001c0022t0003 a0001c0023t0005 a0001c0027t0007 a0001c0032t0005 a0001c0033t0001 a0002c0003t0003 a0002c0003t0009 a0002c0003t0010 a0002c0013t0001 a0002c0015t0002 a0002c0015t0003 a0002c0018t0010 a0002c0019t0017 a0002c0019t0018 a0002c0021t0003 a0002c0024t0003 a0002c0025t0003 a0002c0028t0015 a0002c0029t0001	a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0168 others(284): Show a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0288 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0002g0181 a0001c0001t0005g0253 a0001c0001t0006g0196 a0001c0001t0006g0198 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0006g0247 a0001c0001t0006g0263 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0013g0205 a0001c0001t0014g0193 a0001c0001t0020g0264 a0001c0002t0001g0047 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0029 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0044 a0001c0002t0002g0046 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0066 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0074 a0001c0002t0002g0076 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0329 a0001c0002t0002g0330 a0001c0002t0008g0003 a0001c0002t0008g0008 a0001c0002t0008g0010 a0001c0002t0008g0022 a0001c0002t0008g0023 a0001c0002t0008g0025 a0001c0002t0008g0036 a0001c0002t0008g0043 a0001c0002t0008g0051 a0001c0002t0011g0030 a0001c0002t0011g0052 a0001c0002t0011g0058 a0001c0005t0003g0002 a0001c0005t0003g0225 a0001c0005t0003g0286 a0001c0005t0003g0295 a0001c0005t0003g0296 a0001c0005t0003g0297 a0001c0005t0003g0298 a0001c0005t0003g0299 a0001c0005t0003g0300 a0001c0005t0003g0301 a0001c0005t0003g0302 a0001c0005t0003g0303 a0001c0005t0003g0304 a0001c0005t0003g0307 a0001c0005t0003g0309 a0001c0005t0003g0310 a0001c0005t0003g0311 a0001c0005t0003g0312 a0001c0005t0005g0063 a0001c0005t0005g0064 a0001c0006t0002g0001 a0001c0006t0002g0005 a0001c0006t0002g0067 a0001c0006t0002g0071 a0001c0006t0002g0072 a0001c0006t0002g0073 a0001c0006t0002g0075 a0001c0006t0002g0077 a0001c0006t0002g0078 a0001c0006t0002g0079 a0001c0006t0002g0083 a0001c0006t0002g0128 a0001c0006t0002g0280 a0001c0006t0002g0281 a0001c0006t0002g0337 a0001c0007t0001g0093 a0001c0007t0001g0094 a0001c0007t0001g0116 a0001c0007t0001g0117 a0001c0007t0001g0118 a0001c0007t0001g0124 a0001c0007t0001g0339 a0001c0007t0002g0211 a0001c0007t0002g0215 a0001c0009t0001g0189 a0001c0009t0005g0096 a0001c0009t0005g0097 a0001c0009t0005g0098 a0001c0009t0005g0099 a0001c0009t0005g0100 a0001c0009t0005g0101 a0001c0009t0005g0102 a0001c0009t0005g0103 a0001c0009t0005g0104 a0001c0009t0005g0105 a0001c0010t0007g0122 a0001c0010t0007g0123 a0001c0010t0007g0127 a0001c0010t0007g0149 a0001c0010t0007g0151 a0001c0010t0007g0156 a0001c0010t0007g0158 a0001c0010t0007g0159 a0001c0011t0001g0040 a0001c0011t0003g0027 a0001c0011t0005g0120 a0001c0011t0005g0121 a0001c0012t0001g0011 a0001c0012t0001g0160 a0001c0012t0001g0161 a0001c0014t0001g0092 a0001c0014t0001g0095 a0001c0014t0019g0199 a0001c0016t0003g0068 a0001c0017t0001g0026 a0001c0017t0001g0242 a0001c0022t0003g0308 a0001c0023t0005g0289 a0001c0027t0007g0090 a0001c0032t0005g0107 a0001c0033t0001g0178 a0002c0003t0003g0007 a0002c0003t0003g0050 a0002c0003t0003g0053 a0002c0003t0003g0054 a0002c0003t0003g0278 a0002c0003t0003g0279 a0002c0003t0003g0283 a0002c0003t0003g0284 a0002c0003t0003g0287 a0002c0003t0003g0292 a0002c0003t0003g0293 a0002c0003t0003g0294 a0002c0003t0003g0305 a0002c0003t0003g0306 a0002c0003t0003g0313 a0002c0003t0003g0314 a0002c0003t0003g0315 a0002c0003t0003g0316 a0002c0003t0003g0317 a0002c0003t0003g0318 a0002c0003t0003g0322 a0002c0003t0003g0324 a0002c0003t0003g0325 a0002c0003t0003g0326 a0002c0003t0003g0327 a0002c0003t0003g0328 a0002c0003t0003g0331 a0002c0003t0003g0334 a0002c0003t0003g0335 a0002c0003t0003g0336 a0002c0003t0003g0338 a0002c0003t0009g0024 a0002c0003t0009g0290 a0002c0003t0009g0291 a0002c0003t0009g0319 a0002c0003t0009g0320 a0002c0003t0009g0323 a0002c0003t0010g0274 a0002c0003t0010g0285 a0002c0003t0010g0332 a0002c0003t0010g0333 a0002c0013t0001g0169 a0002c0013t0001g0170 a0002c0013t0001g0172 a0002c0015t0002g0065 a0002c0015t0003g0321 a0002c0018t0010g0114 a0002c0019t0017g0086 a0002c0019t0018g0085 a0002c0021t0003g0340 a0002c0024t0003g0171 a0002c0025t0003g0028 a0002c0028t0015g0087 a0002c0029t0001g0173	290	352	0.8239	25	c.655 others(42): Show c.655+4655_655+4656insGCTACAAACATGCCTCGAACATTTA	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	88068954	G G	GCCCCTGT others(18): Show GCCCCTGTCCGTGCACCCAGCCCAGC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01258.hp1 NA19065.hp2 HG01255.hp1 HG01258.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0001 a0001c0001t0006 a0001c0001t0013	a0001c0001t0001g0219 a0001c0001t0006g0245 a0001c0001t0013g0205 a0001c0001t0001g0219 a0001c0001t0006g0245 a0001c0001t0013g0205	3	352	0.0085	25	c.137 others(44): Show c.1378-3108_1378-3084dupTCCGTGCACCCAGCCCAGCCCCCTG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BARHL2_chr1_90706539_90722302	90719504	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18939.hp2 NA18612.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	446	0.0045	25	c.-23 others(36): Show c.-2310_-2309insTTTTTTTTTTTTTTTTTTTTTTTTT	BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding		2203		chr1	TogoVar
BATF3_chr1_212681417_212704840	212681420	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 NA19078.hp1 NA19085.hp1 HG02155.hp1 NA19078.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0001t0001g0156 a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0001t0001g0156	3	462	0.0065	25	c.53 others(36): Show c.5370_*5371insAAAAAAAAAAAAAAAAAAAAAAAAA	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding		4996		chr1	TogoVar
BATF_chr14_75517469_75551992	75536722	T T	TTAAAATA others(18): Show TTAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp1 HG01081.hp1 others(11): Show HG00280.hp1 HG01069.hp1 HG01081.hp1 HG01255.hp2 HG01361.hp2 HG01515.hp2 HG02602.hp1 HG02717.hp2 HG03017.hp1 HG03239.hp2 HG03942.hp1 NA18970.hp2 NA19030.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0070 a0001c0001t0001g0147 others(8): Show a0001c0001t0001g0006 a0001c0001t0001g0070 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0185 a0001c0001t0001g0199 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0002t0001g0110	14	376	0.0372	25	c.169 others(42): Show c.169-9725_169-9701dupATAAAATAAAATAAAATAAAATAAA	BATF	ENSG00000156127.8	transcript	ENST00000286639.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
BAX_chr19_48949875_48966798	48962914	T T	TTGGGTCT others(18): Show TTGGGTCTCTGTACCTCCCCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	418	0.0024	25	c.12 others(36): Show c.1278_*1279insTGGGTCTCTGTACCTCCCCTCTCTC	BAX	ENSG00000087088.21	transcript	ENST00000345358.12	protein_coding		1117		chr19	TogoVar
BAZ1A_chr14_34747731_34880360	34784367	C C	CCAAAAAA others(18): Show CCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0191 a0001c0012t0004g0191	1	380	0.0026	25	c.183 others(42): Show c.1832-441_1832-440insTTTTTTTTTTTTTTTTTTTTTTTTG	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	14/26			chr14	TogoVar
BAZ2B_chr2_159313979_159621548	159325092	T T	TATTATAT others(18): Show TATTATATATATATATATATATTATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	216	0.0046	25	c.621 others(42): Show c.6210-139_6210-138insTATAATATATATATATATATATAAT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	35/36			chr2	TogoVar
BBOX1_chr11_27035815_27132809	27057063	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	318	0.0031	25	c.220 others(40): Show c.220-138_220-137insAAAAAAAAAAAAAAAAAAAAAAAAA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/8			chr11	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	398	0.0025	25	c.44 others(36): Show c.4408_*4409insTTTTTTTTTTTTTTTTTTTTTTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CACACAAA others(18): Show CACACAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 NA18747.hp1 NA18980.hp1 HG01109.hp2 NA18747.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0013 a0001c0001t0001g0152 a0001c0001t0001g0157	3	398	0.0075	25	c.44 others(36): Show c.4408_*4409insTTTTTTTTTTTTTTTTTTTTTGTGT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BBS4_chr15_72681207_72743473	72687124	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0348 a0001c0001t0002g0348	1	398	0.0025	25	c.24+ others(38): Show c.24+883_24+884insTTTTTTTTTTTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBX_chr3_107517962_107816339	107797337	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01358.hp2 HG01168.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0154 a0001c0001t0001g0093 a0001c0001t0001g0154	2	222	0.0090	25	c.235 others(44): Show c.2354-1186_2354-1185insTATATATATATATATATATATATAT	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17			chr3	TogoVar
BCAS1_chr20_53938541_54075594	54005302	C C	CGAAAACA others(18): Show CGAAAACAAAACAAAACAAAACAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03834.hp1 HG02040.hp2 HG03834.hp1	a0012 a0035 a0012 a0035	a0012c0031 a0035c0038 a0012c0031 a0035c0038	a0012c0031t0005 a0035c0038t0038 a0012c0031t0005 a0035c0038t0038	a0012c0031t0005g0043 a0035c0038t0038g0110 a0012c0031t0005g0043 a0035c0038t0038g0110	2	364	0.0055	25	c.724 others(42): Show c.724-9253_724-9252insTTTTGTTTTGTTTTGTTTTGTTTTC	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	54005303	A A	AAAAACAA others(18): Show AAAAACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00621.hp2 others(81): Show HG00423.hp1 HG00438.hp2 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG01069.hp1 HG01099.hp2 HG01192.hp1 HG01261.hp2 HG01516.hp1 HG01928.hp1 HG01943.hp2 HG02055.hp2 HG02155.hp1 HG02155.hp2 HG02280.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03195.hp2 HG03225.hp1 HG03540.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp2 NA18951.hp2 NA18955.hp2 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18975.hp1 NA18977.hp2 NA18981.hp1 NA18986.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19001.hp2 NA19005.hp1 NA19006.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp2 NA19063.hp2 NA19065.hp1 NA19074.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19087.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0011 a0016 a0026	a0001c0001 a0001c0007 a0001c0034 others(12): Show a0001c0001 a0001c0007 a0001c0034 a0002c0002 a0003c0003 a0003c0028 a0003c0030 a0005c0005 a0005c0018 a0006c0006 a0007c0008 a0008c0021 a0011c0012 a0016c0019 a0026c0036	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(37): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0022 a0001c0007t0001 a0001c0007t0004 a0001c0007t0007 a0001c0007t0014 a0001c0034t0013 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0022 a0002c0002t0035 a0002c0002t0053 a0003c0003t0005 a0003c0003t0008 a0003c0003t0009 a0003c0003t0044 a0003c0028t0013 a0003c0030t0004 a0005c0005t0001 a0005c0005t0003 a0005c0005t0006 a0005c0005t0056 a0005c0018t0001 a0006c0006t0029 a0007c0008t0002 a0007c0008t0008 a0007c0008t0009 a0007c0008t0010 a0007c0008t0016 a0007c0008t0062 a0007c0008t0067 a0008c0021t0002 a0011c0012t0002 a0011c0012t0021 a0011c0012t0061 a0016c0019t0025 a0026c0036t0002	a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0256 others(79): Show a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0004g0122 a0001c0001t0004g0316 a0001c0001t0004g0318 a0001c0001t0004g0325 a0001c0001t0004g0330 a0001c0001t0004g0336 a0001c0001t0004g0344 a0001c0001t0004g0346 a0001c0001t0004g0351 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0022g0166 a0001c0007t0001g0335 a0001c0007t0004g0313 a0001c0007t0004g0314 a0001c0007t0004g0331 a0001c0007t0004g0332 a0001c0007t0004g0337 a0001c0007t0004g0342 a0001c0007t0007g0054 a0001c0007t0014g0341 a0001c0034t0013g0010 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0095 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0134 a0002c0002t0001g0140 a0002c0002t0001g0355 a0002c0002t0002g0212 a0002c0002t0006g0094 a0002c0002t0006g0112 a0002c0002t0022g0096 a0002c0002t0022g0098 a0002c0002t0022g0131 a0002c0002t0035g0007 a0002c0002t0053g0138 a0003c0003t0005g0021 a0003c0003t0008g0072 a0003c0003t0009g0182 a0003c0003t0044g0041 a0003c0028t0013g0018 a0003c0030t0004g0300 a0005c0005t0001g0204 a0005c0005t0001g0274 a0005c0005t0001g0282 a0005c0005t0003g0104 a0005c0005t0006g0214 a0005c0005t0006g0280 a0005c0005t0006g0281 a0005c0005t0006g0283 a0005c0005t0056g0267 a0005c0018t0001g0093 a0005c0018t0001g0118 a0006c0006t0029g0144 a0006c0006t0029g0334 a0006c0006t0029g0347 a0007c0008t0002g0152 a0007c0008t0002g0199 a0007c0008t0008g0179 a0007c0008t0008g0181 a0007c0008t0009g0246 a0007c0008t0010g0185 a0007c0008t0010g0205 a0007c0008t0016g0210 a0007c0008t0016g0218 a0007c0008t0062g0262 a0007c0008t0067g0074 a0008c0021t0002g0148 a0008c0021t0002g0149 a0011c0012t0002g0291 a0011c0012t0002g0292 a0011c0012t0002g0297 a0011c0012t0021g0298 a0011c0012t0061g0307 a0016c0019t0025g0089 a0026c0036t0002g0295	84	364	0.2308	25	c.724 others(42): Show c.724-9278_724-9254dupGTTTTGTTTTGTTTTGTTTTGTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
BCAS3_chr17_60672851_61397831	60692806	A A	AATCGTTT others(18): Show AATCGTTTGAACCCAGGAGGTGGAGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp2 HG01256.hp1 others(17): Show HG00639.hp2 HG01099.hp2 HG01256.hp1 HG01256.hp2 HG01952.hp1 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02451.hp2 HG02559.hp2 HG02809.hp1 HG02809.hp2 HG02965.hp2 HG03098.hp2 HG03471.hp1 HG03579.hp1 NA18951.hp1 NA19030.hp1 NA19043.hp1 NA20300.hp2	a0003 a0003	a0003c0001 a0003c0010 a0003c0001 a0003c0010	a0003c0001t0001 a0003c0001t0002 a0003c0010t0002 a0003c0001t0001 a0003c0001t0002 a0003c0010t0002	a0003c0001t0001g0002 a0003c0001t0001g0003 a0003c0001t0001g0005 others(17): Show a0003c0001t0001g0002 a0003c0001t0001g0003 a0003c0001t0001g0005 a0003c0001t0001g0006 a0003c0001t0001g0007 a0003c0001t0001g0008 a0003c0001t0001g0009 a0003c0001t0001g0010 a0003c0001t0001g0011 a0003c0001t0001g0012 a0003c0001t0001g0021 a0003c0001t0001g0024 a0003c0001t0001g0025 a0003c0001t0001g0026 a0003c0001t0001g0028 a0003c0001t0001g0031 a0003c0001t0002g0022 a0003c0001t0002g0029 a0003c0001t0002g0032 a0003c0010t0002g0023	20	74	0.2703	25	c.214 others(42): Show c.214+3046_214+3070dupATCGTTTGAACCCAGGAGGTGGAGG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61044465	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0028 a0003c0001t0001g0028	1	74	0.0135	25	c.202 others(44): Show c.2029+3574_2029+3575insAAAAAAAAATATATATATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61191780	A A	AAAAAGAA others(18): Show AAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02886.hp2 HG03195.hp1 others(1): Show HG02809.hp2 HG02886.hp2 HG03195.hp1 HG03471.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0003c0001 a0001c0002 a0002c0003 a0003c0001	a0001c0002t0002 a0002c0003t0002 a0003c0001t0001 a0001c0002t0002 a0002c0003t0002 a0003c0001t0001	a0001c0002t0002g0053 a0002c0003t0002g0036 a0003c0001t0001g0021 others(1): Show a0001c0002t0002g0053 a0002c0003t0002g0036 a0003c0001t0001g0021 a0003c0001t0001g0024	4	74	0.0541	25	c.242 others(48): Show c.2425+107221_2425+107245dupGAAAAGAAAAGAAAAGAAAAGA AAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAT1_chr12_24805024_24954101	24886944	T T	TCTCAGCT others(18): Show TCTCAGCTACTTGGGAGGCTGAGGCA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0120 a0001c0001t0023g0120	1	322	0.0031	25	c.280 others(42): Show c.280-5558_280-5534dupTGCCTCAGCCTCCCAAGTAGCTGAG	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	3/10			chr12	TogoVar

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