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
CACNA1C_chr12_2047987_2702950	2380030	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0027 a0001c0021t0027	a0001c0021t0027g0087 a0001c0021t0027g0087	1	104	0.0096	25	c.478 others(44): Show c.478-68932_478-68931insAAAAAAAAAAAAAAAAAAAAAAAAA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53682365	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18994.hp1 NA19070.hp1 HG02145.hp2 NA18994.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0067 a0001c0003t0001 a0001c0004t0011 a0001c0001t0067 a0001c0003t0001 a0001c0004t0011	a0001c0001t0067g0045 a0001c0003t0001g0168 a0001c0004t0011g0145 a0001c0001t0067g0045 a0001c0003t0001g0168 a0001c0004t0011g0145	3	210	0.0143	25	c.122 others(44): Show c.1220+8556_1220+8580dupAAAAAAAAAAAAAAAAAAAAAAAAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53691826	C C	CTATAATA others(18): Show CTATAATATATATTACATATATAATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0129 a0001c0002t0016g0129	1	210	0.0048	25	c.122 others(46): Show c.1221-10800_1221-10776dupCATATATAATATATAATATATATT A	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1I_chr22_39565753_39694735	39596460	A A	AGGGCGGA others(18): Show AGGGCGGAGAGAGATGGGGGGGGCAG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0206 a0001c0002t0002g0206	1	236	0.0042	25	c.237 others(42): Show c.237-1672_237-1671insGGGCAGGGGCGGAGAGAGATGGGGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1S_chr1_201034512_201117426	201111922	T T	TCCTCCTC others(18): Show TCCTCCTCTTCCTCCTCCTCCCCCAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00544.hp1 others(47): Show HG00323.hp1 HG00438.hp2 HG00544.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp1 HG01517.hp1 HG01884.hp2 HG01934.hp2 HG02074.hp2 HG02165.hp2 HG02451.hp1 HG02486.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03927.hp2 HG04184.hp1 HG06807.hp1 NA18747.hp1 NA18945.hp2 NA18947.hp2 NA18969.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp2 NA19057.hp1 NA19076.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA20129.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0016 a0017 a0028	a0001c0001 a0001c0002 a0001c0003 others(26): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0011 a0001c0013 a0001c0017 a0001c0029 a0001c0031 a0001c0073 a0001c0079 a0002c0008 a0002c0012 a0002c0072 a0002c0089 a0003c0005 a0003c0057 a0004c0006 a0004c0043 a0005c0044 a0005c0094 a0006c0055 a0007c0036 a0008c0039 a0016c0032 a0017c0093 a0028c0068	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(26): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0007t0001 a0001c0009t0001 a0001c0011t0001 a0001c0013t0001 a0001c0017t0001 a0001c0029t0001 a0001c0031t0001 a0001c0073t0001 a0001c0079t0001 a0002c0008t0001 a0002c0012t0001 a0002c0072t0001 a0002c0089t0001 a0003c0005t0001 a0003c0057t0001 a0004c0006t0001 a0004c0043t0001 a0005c0044t0001 a0005c0094t0001 a0006c0055t0001 a0007c0036t0001 a0008c0039t0001 a0016c0032t0001 a0017c0093t0001 a0028c0068t0001	a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0279 others(45): Show a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0272 a0001c0002t0001g0277 a0001c0003t0001g0285 a0001c0003t0001g0289 a0001c0004t0001g0018 a0001c0007t0001g0284 a0001c0009t0001g0006 a0001c0009t0001g0053 a0001c0009t0001g0264 a0001c0009t0001g0265 a0001c0011t0001g0278 a0001c0013t0001g0007 a0001c0013t0001g0292 a0001c0013t0001g0293 a0001c0013t0001g0296 a0001c0017t0001g0047 a0001c0017t0001g0052 a0001c0029t0001g0049 a0001c0029t0001g0274 a0001c0031t0001g0048 a0001c0073t0001g0046 a0001c0079t0001g0269 a0002c0008t0001g0275 a0002c0012t0001g0270 a0002c0072t0001g0266 a0002c0089t0001g0054 a0003c0005t0001g0281 a0003c0057t0001g0291 a0004c0006t0001g0294 a0004c0006t0001g0295 a0004c0043t0001g0288 a0005c0044t0001g0286 a0005c0094t0001g0263 a0006c0055t0001g0290 a0007c0036t0001g0287 a0008c0039t0001g0045 a0016c0032t0001g0267 a0016c0032t0001g0268 a0017c0093t0001g0246 a0028c0068t0001g0273	50	314	0.1592	25	c.152 others(40): Show c.152+265_152+266insGTGGGGGAGGAGGAGGAAGAGGAGG	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	1/43			chr1	TogoVar
CACNA2D1_chr7_81941444_82448777	82068642	C C	CCCAGACT others(18): Show CCCAGACTGACACAAAACGATTGAAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01891.hp1 HG02109.hp1 others(10): Show HG01433.hp1 HG01891.hp1 HG02109.hp1 HG02258.hp1 HG02717.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG03041.hp1 HG03098.hp2 HG03453.hp2 HG03471.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0020 a0001c0001t0021 a0001c0002t0001 a0001c0004t0006 a0001c0004t0008 a0001c0006t0013	a0001c0001t0001g0077 a0001c0001t0002g0097 a0001c0001t0006g0138 others(10): Show a0001c0001t0001g0077 a0001c0001t0002g0097 a0001c0001t0006g0138 a0001c0001t0008g0023 a0001c0001t0008g0083 a0001c0001t0011g0028 a0001c0001t0020g0114 a0001c0001t0021g0113 a0001c0002t0001g0018 a0001c0002t0001g0026 a0001c0004t0006g0104 a0001c0004t0008g0024 a0001c0006t0013g0069	13	144	0.0903	25	c.659 others(42): Show c.659-2119_659-2118insATTCAATCGTTTTGTGTCAGTCTGG	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	7/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82140954	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0089 a0001c0001t0010g0089	1	144	0.0069	25	c.355 others(42): Show c.355-4279_355-4278insTTTTTTTTTTTTTTTTTTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54687121	C C	CTTTTTCT others(18): Show CTTTTTCTTTTTCTTTTTCTTTTTCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02965.hp1 HG03579.hp2 HG02717.hp2 HG02965.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0014 a0001c0039 a0001c0002 a0001c0014 a0001c0039	a0001c0002t0001 a0001c0014t0001 a0001c0039t0001 a0001c0002t0001 a0001c0014t0001 a0001c0039t0001	a0001c0002t0001g0070 a0001c0014t0001g0071 a0001c0039t0001g0047 a0001c0002t0001g0070 a0001c0014t0001g0071 a0001c0039t0001g0047	3	118	0.0254	25	c.116 others(46): Show c.1167+44885_1167+44886insCTTTTTCTTTTTCTTTTTCTTTTT T	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54822790	C C	CTTTTCTT others(18): Show CTTTTCTTTCTTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	118	0.0085	25	c.139 others(44): Show c.1398+5920_1398+5921insTTTTCTTTCTTTTCTTTCTTTCTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	14/37			chr3	TogoVar
CACNB2_chr10_18135424_18548557	18307983	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03041.hp2 HG03540.hp1 others(1): Show HG02559.hp1 HG03041.hp2 HG03540.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0003 a0001c0002 a0001c0005 a0002c0003	a0001c0002t0002 a0001c0005t0022 a0002c0003t0024 a0001c0002t0002 a0001c0005t0022 a0002c0003t0024	a0001c0002t0002g0050 a0001c0002t0002g0061 a0001c0005t0022g0186 others(1): Show a0001c0002t0002g0050 a0001c0002t0002g0061 a0001c0005t0022g0186 a0002c0003t0024g0141	4	200	0.0200	25	c.214 others(44): Show c.214-93938_214-93914dupTTTTTTTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18464418	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0106 a0001c0002t0002g0106	1	200	0.0050	25	c.334 others(44): Show c.334-33915_334-33914insAAAAAAAAAAAAAAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18464418	T T	TAAAATAA others(18): Show TAAAATAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp2 HG01978.hp1 others(3): Show HG00738.hp2 HG01109.hp2 HG01978.hp1 HG02523.hp1 NA18994.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0030 a0001c0002t0059 a0001c0004t0010	a0001c0001t0001g0127 a0001c0001t0004g0153 a0001c0002t0002g0071 others(3): Show a0001c0001t0001g0127 a0001c0001t0004g0153 a0001c0002t0002g0071 a0001c0002t0030g0046 a0001c0002t0059g0054 a0001c0004t0010g0116	6	200	0.0300	25	c.334 others(44): Show c.334-33933_334-33932insTAAAAAAAAAAAAAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18536243	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG03195.hp2 HG01243.hp2 HG02145.hp1 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0006 a0001c0001t0040 a0002c0003t0053 a0001c0001t0006 a0001c0001t0040 a0002c0003t0053	a0001c0001t0006g0005 a0001c0001t0040g0021 a0002c0003t0053g0027 a0001c0001t0006g0005 a0001c0001t0040g0021 a0002c0003t0053g0027	3	200	0.0150	25	c.130 others(40): Show c.1302+53_1302+77dupTTTTTTTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18464418	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0045	1	302	0.0033	25	c.172 others(44): Show c.172-33915_172-33914insAAAAAAAAAAAAAAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18464418	T T	TAAAATAA others(18): Show TAAAATAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG01099.hp2 others(10): Show HG00099.hp1 HG00738.hp1 HG01099.hp2 HG01109.hp1 HG01928.hp1 HG01978.hp1 HG03654.hp1 NA18971.hp2 NA18977.hp1 NA18978.hp1 NA18994.hp2 NA19002.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0002t0006 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0049 a0001c0002t0051 a0001c0004t0008	a0001c0001t0001g0174 a0001c0002t0002g0009 a0001c0002t0002g0101 others(10): Show a0001c0001t0001g0174 a0001c0002t0002g0009 a0001c0002t0002g0101 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0006g0151 a0001c0002t0006g0154 a0001c0002t0006g0165 a0001c0002t0049g0152 a0001c0002t0051g0228 a0001c0004t0008g0214 a0001c0004t0008g0218 a0001c0004t0008g0219	13	302	0.0431	25	c.172 others(44): Show c.172-33933_172-33932insTAAAAAAAAAAAAAAAAAAAAAAAA	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18536243	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG03195.hp1 HG01243.hp2 HG02145.hp1 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0001c0001t0031 a0002c0003t0067 a0001c0001t0005 a0001c0001t0031 a0002c0003t0067	a0001c0001t0005g0188 a0001c0001t0031g0232 a0002c0003t0067g0104 a0001c0001t0005g0188 a0001c0001t0031g0232 a0002c0003t0067g0104	3	302	0.0099	25	c.114 others(40): Show c.1140+53_1140+77dupTTTTTTTTTTTTTTTTTTTTTTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG2_chr22_36555857_36708752	36703781	C C	CTCTCTCT others(18): Show CTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0207 a0001c0001t0106g0207	1	214	0.0047	25	c.-12 others(36): Show c.-1206_-1205insAGAGAGAGAGAGAGAGAGAGAGAGA	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		30		chr22	TogoVar
CACNG2_chr22_36555857_36708752	36703801	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0140 a0001c0001t0077g0140	1	214	0.0047	25	c.-12 others(36): Show c.-1226_-1225insGAGAGAGAGAGAGAGAGAGAGAGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		50		chr22	TogoVar
CACNG3_chr16_24251335_24367412	24317643	A A	AAAGAAAG others(18): Show AAAGAAAGAAAGAAAGGAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	366	0.0027	25	c.212 others(44): Show c.212-29089_212-29088insGAAAGAAAGAAAGGAAAAGAAAGAA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG3_chr16_24251335_24367412	24317643	A A	AAAGAAAG others(18): Show AAAGAAAGAAAGGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	366	0.0027	25	c.212 others(44): Show c.212-29089_212-29088insGAAAGAAAGGAAAAGAAAGAAAGAA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNG6_chr19_53986637_54017666	54017628	C C	CTCTCTCT others(18): Show CTCTCTCTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG02970.hp1 HG01192.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0003g0028 a0001c0003t0002g0095 a0001c0001t0003g0028 a0001c0003t0002g0095	2	430	0.0047	25	c.54 others(36): Show c.5439_*5440insTCTCTCTCTCTCTCTCTCTCTCTCT	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		4963		chr19	TogoVar
CACNG7_chr19_53904278_53948950	53920759	T T	TCTGGTCA others(18): Show TCTGGTCATTGGTGAGTTGCCCCAGG	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	364	0.0028	25	c.424 others(42): Show c.424+5267_424+5268insAGTTGCCCCAGGCTGGTCATTGGTG	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53925583	C C	CCCCAGGC others(18): Show CCCCAGGCTGGTCATTGGTGGACTTG	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	364	0.0028	25	c.424 others(44): Show c.424+10095_424+10096insTGGACTTGCCCAGGCTGGTCATTGG	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACTIN_chr19_3605645_3631790	3611003	C C	CCTGATAT others(18): Show CCTGATATGGGCAAAACTCGGGGTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0018 a0002c0001t0018	a0002c0001t0018g0166 a0002c0001t0018g0166	1	408	0.0025	25	c.89 others(34): Show c.895_*919dupTGACCCCGAGTTTTGCCCATATCAG	CACTIN	ENSG00000105298.14	transcript	ENST00000429344.7	protein_coding	10/10	919		chr19	TogoVar
CADM1_chr11_115164236_115509415	115206758	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0006 a0001c0001t0011g0006	1	164	0.0061	25	c.107 others(44): Show c.1078+2791_1078+2815dupAAAAAAAAAAAAAAAAAAAAAAAAA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	8/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115306072	C C	CACACACA others(18): Show CACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0075 a0001c0001t0008g0075	1	164	0.0061	25	c.125 others(44): Show c.125-65653_125-65652insTGTGTGTGTGTGTGTGTGTGTGTGT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115340658	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0074 a0001c0002t0022g0074	1	164	0.0061	25	c.125 others(46): Show c.125-100239_125-100238insAAAAAAAAAAAAATATATATATAT A	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115340658	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0073 a0001c0005t0009g0073	1	164	0.0061	25	c.125 others(46): Show c.125-100239_125-100238insAAAAAAAAAAAAAAATATATATAT A	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM2_chr3_84953989_86079429	85034790	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02970.hp2 HG02895.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0050 a0001c0001t0020 a0001c0001t0050	a0001c0001t0020g0097 a0001c0001t0050g0107 a0001c0001t0020g0097 a0001c0001t0050g0107	2	146	0.0137	25	c.61+ others(42): Show c.61+75146_61+75147insTTTTTTTTTTTTTTTTTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85274063	T T	TCAAATAG others(18): Show TCAAATAGGAGAAACACTGAGAATTG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0086 a0001c0001t0012g0086	1	146	0.0069	25	c.61+ others(44): Show c.61+314405_61+314429dupGAAACACTGAGAATTGCAAATAGGA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG04204.hp2 HG01515.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0099 a0001c0001t0003g0073 a0001c0001t0001g0099 a0001c0001t0003g0073	2	146	0.0137	25	c.62- others(44): Show c.62-366855_62-366854insATATATATATATATATATATATTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02015.hp2 HG02809.hp2 HG00140.hp2 HG02015.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0022 a0001c0002t0046 a0001c0001t0003 a0001c0001t0022 a0001c0002t0046	a0001c0001t0003g0062 a0001c0001t0022g0081 a0001c0002t0046g0139 a0001c0001t0003g0062 a0001c0001t0022g0081 a0001c0002t0046g0139	3	146	0.0206	25	c.62- others(44): Show c.62-366855_62-366854insATATATATATATATATATATTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85359666	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0112 a0001c0001t0032g0112	1	146	0.0069	25	c.62- others(44): Show c.62-366855_62-366854insATATATATATATATATTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85471687	C C	CATTTTAT others(18): Show CATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01361.hp2 HG01884.hp2 others(5): Show HG00621.hp2 HG01361.hp2 HG01884.hp2 HG02015.hp1 HG03492.hp2 NA18977.hp1 NA18989.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0001t0047	a0001c0001t0001g0047 a0001c0001t0004g0064 a0001c0001t0009g0037 others(5): Show a0001c0001t0001g0047 a0001c0001t0004g0064 a0001c0001t0009g0037 a0001c0001t0010g0067 a0001c0001t0010g0146 a0001c0001t0015g0076 a0001c0001t0018g0039 a0001c0001t0047g0038	8	146	0.0548	25	c.62- others(44): Show c.62-254821_62-254797dupTTATTTTATTTTATTTTATTTTATT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85637611	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG01261.hp1 others(36): Show HG00423.hp1 HG00621.hp2 HG01261.hp1 HG01361.hp2 HG01981.hp1 HG02015.hp1 HG02129.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03130.hp2 HG03579.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18906.hp2 NA18950.hp1 NA18952.hp1 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA18989.hp2 NA18995.hp2 NA19003.hp1 NA19064.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0001t0043 a0001c0001t0049 a0001c0002t0011 a0001c0002t0048 a0001c0003t0006 a0001c0003t0024 a0001c0003t0042 a0002c0005t0004	a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0079 others(36): Show a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0002g0001 a0001c0001t0002g0052 a0001c0001t0003g0055 a0001c0001t0003g0104 a0001c0001t0003g0114 a0001c0001t0003g0121 a0001c0001t0004g0053 a0001c0001t0004g0075 a0001c0001t0004g0117 a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0009g0008 a0001c0001t0009g0037 a0001c0001t0009g0066 a0001c0001t0010g0067 a0001c0001t0010g0146 a0001c0001t0017g0089 a0001c0001t0017g0135 a0001c0001t0018g0035 a0001c0001t0018g0039 a0001c0001t0043g0060 a0001c0001t0049g0033 a0001c0002t0011g0012 a0001c0002t0048g0096 a0001c0003t0006g0025 a0001c0003t0006g0027 a0001c0003t0006g0028 a0001c0003t0006g0030 a0001c0003t0006g0034 a0001c0003t0024g0004 a0001c0003t0024g0007 a0001c0003t0042g0109 a0002c0005t0004g0058	39	146	0.2671	25	c.62- others(42): Show c.62-88907_62-88906insTAAAATAAAATAAAATAAAATAAAA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85855617	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01516.hp1 HG01517.hp1 others(1): Show HG01074.hp1 HG01516.hp1 HG01517.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0021g0126 others(1): Show a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0021g0126 a0001c0001t0021g0127	4	146	0.0274	25	c.239 others(44): Show c.239-27674_239-27673insTATATATATATATATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	3/9			chr3	TogoVar
CADM2_chr3_84953989_86079429	85898955	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0095 a0001c0002t0007g0095	1	146	0.0069	25	c.529 others(44): Show c.529+12629_529+12630insATATATATATATATATATATTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85898955	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0133 a0001c0001t0015g0133	1	146	0.0069	25	c.529 others(44): Show c.529+12629_529+12630insATATATATATATATATATTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85898956	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0072 a0001c0001t0039g0072	1	146	0.0069	25	c.529 others(44): Show c.529+12629_529+12630insATATATATATATATATATATATATA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9			chr3	TogoVar
CADPS2_chr7_122313411_122891460	122315296	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 NA18946.hp1 HG01255.hp1 NA18946.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0002 a0001c0004t0002 a0001c0003t0002 a0001c0004t0002	a0001c0003t0002g0082 a0001c0004t0002g0049 a0001c0003t0002g0082 a0001c0004t0002g0049	2	126	0.0159	25	c.48 others(36): Show c.4868_*4869insGAGAGAGAGAGAGAGAGAGAGAGAG	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding		3114		chr7	TogoVar
CADPS2_chr7_122313411_122891460	122315298	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02723.hp2 HG02280.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0107 a0001c0002t0002g0057 a0001c0001t0002g0107 a0001c0002t0002g0057	2	126	0.0159	25	c.48 others(36): Show c.4866_*4867insGAGAGAGAGAGAGAGAGAGAGAGAG	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding		3112		chr7	TogoVar
CADPS2_chr7_122313411_122891460	122351372	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02132.hp2 HG01978.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0003g0037 a0001c0003t0001g0011 a0001c0001t0003g0037 a0001c0003t0001g0011	2	126	0.0159	25	c.350 others(44): Show c.3505-5716_3505-5692dupTTTTTTTTTTTTTTTTTTTTTTTTT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	27/29			chr7	TogoVar
CADPS_chr3_62393348_62880416	62648691	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03130.hp1 NA19030.hp1 HG02145.hp1 HG03130.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0004t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0004t0001g0076	3	160	0.0188	25	c.120 others(44): Show c.1203+2155_1203+2156insTTTTTTTTTTTTTTTTTTTTTTTTT	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	5/29			chr3	TogoVar
CADPS_chr3_62393348_62880416	62731805	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01516.hp1 HG02970.hp1 others(2): Show HG00735.hp2 HG01516.hp1 HG02970.hp1 HG02970.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0001c0001t0007 a0002c0008t0001 a0001c0001t0001 a0001c0001t0007 a0002c0008t0001	a0001c0001t0001g0015 a0001c0001t0001g0072 a0001c0001t0001g0129 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0072 a0001c0001t0001g0129 a0001c0001t0007g0026 a0002c0008t0001g0100	5	160	0.0313	25	c.888 others(44): Show c.888+21611_888+21635dupTTTTTTTTTTTTTTTTTTTTTTTTT	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	3/29			chr3	TogoVar
CAGE1_chr6_7321659_7394742	7351530	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03516.hp1 HG02970.hp1 HG03516.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0239 a0004c0005t0003g0241 a0004c0005t0003g0239 a0004c0005t0003g0241	2	360	0.0056	25	c.236 others(44): Show c.2369+3510_2369+3511insATTTTATTTTATTTTATTTTATTTT	CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	11/13			chr6	TogoVar
CALB2_chr16_71353723_71395433	71356943	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG02165.hp2 NA18951.hp1 HG00438.hp1 HG02165.hp2 NA18951.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0001c0001t0002 a0002c0002t0004	a0001c0001t0002g0302 a0001c0001t0002g0306 a0002c0002t0004g0266 a0001c0001t0002g0302 a0001c0001t0002g0306 a0002c0002t0004g0266	3	426	0.0070	25	c.-18 others(36): Show c.-1850_-1849insTTTTTTTTTTTTTTTTTTTTTTTTT	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding		1779		chr16	TogoVar
CALB2_chr16_71353723_71395433	71366022	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03688.hp1 NA19065.hp1 HG02155.hp2 HG03688.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115	3	426	0.0070	25	c.95- others(40): Show c.95-6130_95-6129insTTTTTTTTTTTTTTTTTTTTTTTTT	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALB2_chr16_71353723_71395433	71366024	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0272 a0001c0001t0003g0272	1	426	0.0024	25	c.95- others(40): Show c.95-6109_95-6108insTTTTTTTTTTTTTTTTTTTTTTTTT	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALCOCO2_chr17_48826035_48870245	48828526	C C	CGGTTCAC others(18): Show CGGTTCACTGCAACCTCCGCAATCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0019 a0004c0004t0019	a0004c0004t0019g0100 a0004c0004t0019g0100	1	328	0.0031	25	c.-25 others(36): Show c.-2563_-2562insGGTTCACTGCAACCTCCGCAATCTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding		2508		chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0302 a0001c0001t0002g0302	1	328	0.0031	25	c.912 others(42): Show c.912+1385_912+1386insATATATATATATATATATATATTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar

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