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
AADACL4_chr1_12639085_12672076	12658166	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	310	0.0032	38	c.386 others(55): Show c.386-3624_386-3623insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	AADACL4	ENSG00000204518.3	transcript	ENST00000376221.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
AAGAB_chr15_67195667_67259661	67222282	A A	ACACACAC others(31): Show ACACACACACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0184 a0002c0002t0003g0185 a0002c0002t0003g0184 a0002c0002t0003g0185	2	380	0.0053	38	c.535 others(55): Show c.535+9531_535+9532insGGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTG	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	5/9			chr15	TogoVar
AAK1_chr2_69452997_69648739	69493158	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	1	298	0.0034	38	c.236 others(57): Show c.2365+2826_2365+2827insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
ABAT_chr16_8669617_8789570	8710727	A A	AGAGAGAG others(31): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0255 a0001c0001t0003g0255	1	362	0.0028	38	c.-41 others(57): Show c.-41-24969_-41-24968insAGAGAGAGAGAGAGAGAGAGAGAGGG AGAGGGAGGGAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8710727	A A	AGAGAGAG others(31): Show AGAGAGAGAGAGAGAGAGAGAGAGAGGAGGAGAGGGAGG	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	362	0.0028	38	c.-41 others(57): Show c.-41-24969_-41-24968insAGAGAGAGAGAGAGAGAGAGAGGAGG AGAGGGAGGGAG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8743444	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0209 a0002c0002t0001g0209	1	362	0.0028	38	c.71- others(53): Show c.71-2556_71-2555insTATATATATATATATATATATATATATATA TATATACA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69177976	A A	ATATATAT others(31): Show ATATATATATATATGTTATATATATATATATATATATGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0015 a0015	a0015c0030 a0015c0030	a0015c0030t0001 a0015c0030t0001	a0015c0030t0001g0260 a0015c0030t0001g0260	1	348	0.0029	38	c.277 others(57): Show c.2770-2464_2770-2463insACATATATATATATATATATATAACA TATATATATATA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210847	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA19086.hp2 NA18993.hp2 NA19086.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0033 a0004c0006t0003g0045 a0004c0006t0003g0033 a0004c0006t0003g0045	2	348	0.0058	38	c.100 others(57): Show c.1006+3856_1006+3857insATATATATATATATATATATATATAT ATATATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA12_chr2_214926542_215143626	214989187	C C	CATACATA others(31): Show CATACATACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp2 HG02015.hp1 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0002g0154 a0001c0004t0001g0160 a0001c0001t0002g0154 a0001c0004t0001g0160	2	198	0.0101	38	c.382 others(55): Show c.3829+141_3829+142insATATATATATATATATATATATATATAT ATGTATGTAT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/52			chr2	TogoVar
ABCA12_chr2_214926542_215143626	214989187	C C	CATACATA others(31): Show CATACATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03834.hp1 HG01993.hp2 HG03834.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0034 a0001c0001 a0007c0034	a0001c0001t0002 a0007c0034t0005 a0001c0001t0002 a0007c0034t0005	a0001c0001t0002g0123 a0007c0034t0005g0169 a0001c0001t0002g0123 a0007c0034t0005g0169	2	198	0.0101	38	c.382 others(55): Show c.3829+141_3829+142insATATATATATATATATATATATATATAT ATATATGTAT	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	26/52			chr2	TogoVar
ABCA5_chr17_69239311_69332133	69263697	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA19240.hp1 HG01361.hp1 NA19240.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0198 a0004c0005t0003g0206 a0004c0005t0003g0198 a0004c0005t0003g0206	2	350	0.0057	38	c.331 others(57): Show c.3315+1037_3315+1038insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	24/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69298314	G G	GGAAGGAA others(31): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0024 a0002c0001t0024	a0002c0001t0024g0277 a0002c0001t0024g0277	1	350	0.0029	38	c.126 others(55): Show c.1268-956_1268-955insTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTC	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	9/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69303807	T T	TATATATA others(31): Show TATATATATATATATATATACACATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01123.hp2 HG01167.hp2 others(8): Show HG00280.hp1 HG01123.hp2 HG01167.hp2 HG02738.hp1 HG03041.hp1 HG03669.hp2 HG03710.hp2 HG04184.hp1 NA18947.hp1 NA18972.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0017 a0001c0002 a0001c0008 a0001c0017	a0001c0002t0001 a0001c0002t0020 a0001c0008t0001 others(2): Show a0001c0002t0001 a0001c0002t0020 a0001c0008t0001 a0001c0008t0019 a0001c0017t0001	a0001c0002t0001g0059 a0001c0002t0001g0067 a0001c0002t0001g0075 others(8): Show a0001c0002t0001g0059 a0001c0002t0001g0067 a0001c0002t0001g0075 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0122 a0001c0002t0020g0123 a0001c0008t0001g0049 a0001c0008t0001g0080 a0001c0008t0019g0082 a0001c0017t0001g0159	11	350	0.0314	38	c.930 others(53): Show c.930+861_930+862insGTGTATATATATATATGTGTATATATATAT ATATATAT	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	7/38			chr17	TogoVar
ABCA6_chr17_69073702_69146895	69086486	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02698.hp2 HG02083.hp1 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0194 a0002c0002t0002g0235 a0002c0002t0002g0194 a0002c0002t0002g0235	2	326	0.0061	38	c.393 others(55): Show c.3937+131_3937+132insATATATATATATATATATATATATATAT ATATATATAT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	30/38			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68958576	T T	TAATATAA others(31): Show TAATATAATATATATAATATATAATAATATATATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0013 a0013	a0013c0056 a0013c0056	a0013c0056t0001 a0013c0056t0001	a0013c0056t0001g0135 a0013c0056t0001g0135	1	274	0.0037	38	c.-35 others(49): Show c.-3525_-3524insTTTATATATATATTATTATATATTATATATATTA TATT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3185		chr17	TogoVar
ABCC1_chr16_15944616_16148053	16124335	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02155.hp2 NA19074.hp2 HG01257.hp2 HG02155.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0004 a0001c0004t0002 a0001c0001t0001 a0001c0002t0004 a0001c0004t0002	a0001c0001t0001g0125 a0001c0002t0004g0225 a0001c0004t0002g0168 a0001c0001t0001g0125 a0001c0002t0004g0225 a0001c0004t0002g0168	3	249	0.0121	38	c.359 others(55): Show c.3591-440_3591-439insTGTGTGTGTGTGTATGTGTGTGTATGTG TGTGTGTGTG	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	24/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC2_chr10_99777640_99857594	99778449	C C	CAGAGAGA others(31): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG01884.hp2 HG02280.hp1 others(2): Show HG00558.hp2 HG01884.hp2 HG02280.hp1 NA18522.hp1 NA18953.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0210 others(2): Show a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0210 a0001c0001t0001g0211 a0006c0009t0001g0161	5	336	0.0149	38	c.-43 others(49): Show c.-4396_-4395insAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAG AGAG	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4190		chr10	TogoVar
ABCC2_chr10_99777640_99857594	99778449	C C	CAGAGAGA others(31): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0166 a0001c0002t0003g0166	1	336	0.0030	38	c.-43 others(49): Show c.-4396_-4395insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAG AGAG	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding		4190		chr10	TogoVar
ABCC3_chr17_50629881_50697253	50673978	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	342	0.0029	38	c.259 others(55): Show c.2599+323_2599+324insTTCTTTCTCTTTCTTTCTTTCTTTCTTT CTCTCTCTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50673980	C C	CCTTCCTT others(31): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19240.hp1 HG03516.hp1 NA19240.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0016 a0001c0001 a0008c0016	a0001c0001t0001 a0008c0016t0001 a0001c0001t0001 a0008c0016t0001	a0001c0001t0001g0034 a0008c0016t0001g0037 a0001c0001t0001g0034 a0008c0016t0001g0037	2	342	0.0059	38	c.259 others(55): Show c.2599+322_2599+323insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30			chr17	TogoVar
ABCC5_chr3_183914934_184022884	183922821	G G	GCGTGTCC others(31): Show GCGTGTCCTTCCTTTGGACACGTGTCCTTCCTTTGGACA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18995.hp2 NA19062.hp1 others(1): Show NA18988.hp2 NA18995.hp2 NA19062.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0085 a0001c0002t0001g0087 others(1): Show a0001c0002t0001g0068 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0092	4	378	0.0106	38	c.421 others(57): Show c.4213-1421_4213-1420insTGTCCAAAGGAAGGACACGTGTCCAA AGGAAGGACACG	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	29/29			chr3	TogoVar
ABCC5_chr3_183914934_184022884	184022776	G G	GTAGAGAT others(31): Show GTAGAGATGGTGTTTCACCATGTTGGTCAGGCTGGTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	378	0.0027	38	c.-50 others(49): Show c.-5003_-5002insGAAACCAGCCTGACCAACATGGTGAAACACCATC TCTA	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding		4893		chr3	TogoVar
ABCG2_chr4_88085269_88163639	88115232	G G	GTCTCTCT others(31): Show GTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02300.hp2 HG02738.hp2 others(5): Show HG02273.hp2 HG02300.hp2 HG02738.hp2 HG03098.hp1 NA18951.hp2 NA18952.hp2 NA18969.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0004t0015	a0001c0001t0001g0172 a0001c0001t0001g0257 a0001c0001t0001g0279 others(5): Show a0001c0001t0001g0172 a0001c0001t0001g0257 a0001c0001t0001g0279 a0001c0001t0002g0236 a0001c0001t0002g0237 a0002c0002t0001g0043 a0002c0002t0002g0044 a0002c0004t0015g0330	8	350	0.0229	38	c.842 others(53): Show c.842-175_842-174insGAGAGAGAGAGAGAGAGAGAGACAGAGAGA GAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03017.hp2 HG02723.hp2 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0335 a0002c0002t0001g0057 a0001c0001t0004g0335 a0002c0002t0001g0057	2	350	0.0057	38	c.842 others(53): Show c.842-199_842-198insTATATATATATATAGAGAGAGAGAGAGAGA GAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02602.hp2 HG02027.hp2 HG02602.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0217 a0003c0003t0001g0288 a0003c0003t0001g0217 a0003c0003t0001g0288	2	350	0.0057	38	c.842 others(53): Show c.842-199_842-198insTATATATATAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA18965.hp1 NA19078.hp2 HG02148.hp2 NA18965.hp1 NA19078.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0201 a0002c0002t0001g0056 a0002c0002t0001g0066 a0001c0001t0001g0201 a0002c0002t0001g0056 a0002c0002t0001g0066	3	350	0.0086	38	c.842 others(53): Show c.842-199_842-198insTATATATAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02040.hp2 HG02723.hp1 others(6): Show HG01433.hp1 HG02040.hp2 HG02723.hp1 HG03669.hp1 NA18953.hp2 NA18962.hp1 NA18969.hp1 NA18980.hp1 NA19079.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0004 a0003c0003 others(1): Show a0001c0001 a0002c0004 a0003c0003 a0004c0006	a0001c0001t0001 a0002c0004t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0002c0004t0001 a0003c0003t0001 a0003c0003t0004 a0004c0006t0001	a0001c0001t0001g0254 a0002c0004t0001g0248 a0003c0003t0001g0290 others(6): Show a0001c0001t0001g0254 a0002c0004t0001g0248 a0003c0003t0001g0290 a0003c0003t0001g0304 a0003c0003t0001g0307 a0003c0003t0001g0311 a0003c0003t0001g0312 a0003c0003t0004g0333 a0004c0006t0001g0314	9	350	0.0257	38	c.842 others(53): Show c.842-199_842-198insTATATAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG2_chr4_88085269_88163639	88115256	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18975.hp2 NA19068.hp2 HG01109.hp1 NA18975.hp2 NA19068.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0001 a0002c0002t0001 a0004c0006t0001 a0001c0001t0001 a0002c0002t0001 a0004c0006t0001	a0001c0001t0001g0258 a0002c0002t0001g0063 a0004c0006t0001g0240 a0001c0001t0001g0258 a0002c0002t0001g0063 a0004c0006t0001g0240	3	350	0.0086	38	c.842 others(53): Show c.842-199_842-198insTATAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	ABCG2	ENSG00000118777.12	transcript	ENST00000237612.8	protein_coding	7/15			chr4	TogoVar
ABCG8_chr2_43833971_43887988	43857422	G G	GATAGAAC others(31): Show GATAGAACTCTCACTATCTGGATAGAATCCTCACTCTAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02809.hp2 HG03453.hp1 HG01884.hp2 HG02809.hp2 HG03453.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0046 a0003c0002t0102 a0003c0002t0046 a0003c0002t0102	a0003c0002t0046g0016 a0003c0002t0102g0161 a0003c0002t0046g0016 a0003c0002t0102g0161	3	318	0.0094	38	c.964 others(55): Show c.964+4573_964+4610dupGGATAGAATCCTCACTCTATATAGAACT CTCACTATCT	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABHD12B_chr14_50867053_50909970	50870941	A A	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 NA19058.hp1 NA19081.hp1 HG04199.hp2 NA19058.hp1 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0267 a0002c0002t0002g0297 a0002c0002t0002g0001 a0002c0002t0002g0267 a0002c0002t0002g0297	3	376	0.0080	38	c.-12 others(49): Show c.-1234_-1233insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1111		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870945	A A	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA19065.hp2 NA18944.hp1 NA19065.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0002 a0001c0001t0001 a0005c0008t0002	a0001c0001t0001g0105 a0005c0008t0002g0283 a0001c0001t0001g0105 a0005c0008t0002g0283	2	376	0.0053	38	c.-12 others(49): Show c.-1230_-1229insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1107		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870949	A A	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0271 a0002c0002t0002g0271	1	376	0.0027	38	c.-12 others(49): Show c.-1226_-1225insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1103		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0215 a0001c0005t0008g0215	1	376	0.0027	38	c.-11 others(49): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAGAAAGAGAAAGAA AGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870987	A A	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0088 a0001c0011t0004g0088	1	376	0.0027	38	c.-11 others(49): Show c.-1188_-1187insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1065		chr14	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0206 a0001c0002t0002g0206	1	316	0.0032	38	c.422 others(53): Show c.422+943_422+944insAAAAAAAATATATATATATATATATATATA TATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD2_chr15_89083456_89207355	89127724	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	234	0.0043	38	c.194 others(57): Show c.194+11219_194+11220insATATATATATATATATATATACATAT ATATATATATAT	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABI1_chr10_26741596_26865958	26818631	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03486.hp2 HG02109.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0278 a0001c0001t0003g0282 a0001c0001t0003g0278 a0001c0001t0003g0282	2	358	0.0056	38	c.285 others(55): Show c.285+4506_285+4507insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	2/10			chr10	TogoVar
ABI2_chr2_203323394_203437169	203338943	T T	TATATATA others(31): Show TATATATATATATATAAATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0123 a0001c0001t0012g0123	1	320	0.0031	38	c.117 others(57): Show c.117+10327_117+10328insAATATATATATATATATATATAAATA TATATATATATA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABLIM2_chr4_7960327_8163813	8091330	T T	TTATATAT others(31): Show TTATATATATATAATATATATATAATTATATATATATTA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	322	0.0031	38	c.339 others(55): Show c.339-3047_339-3046insTAATATATATATAATTATATATATATTA TATATATATA	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	3/20			chr4	TogoVar
ABR_chr17_998519_1184981	999358	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATACATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0105 a0001c0003t0012g0105	1	337	0.0030	38	c.67 others(49): Show c.6721_*6722insGTATGTATATATATATATATATATATATATATAT ATAT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding		4160		chr17	TogoVar
ACAA2_chr18_49777164_49818533	49799847	G G	GGGAGCGC others(31): Show GGGAGCGCCTCTGCCCCGCCGCCCCCGTCTGGGATGTGA	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0242 a0001c0001t0006g0242	1	434	0.0023	38	c.184 others(55): Show c.184-2254_184-2253insTCACATCCCAGACGGGGGCGGCGGGGCA GAGGCGCTCC	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	2/9			chr18	TogoVar
ACACA_chr17_37079992_37411836	37163196	T T	TAAAAAAA others(31): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA19068.hp2 HG02040.hp2 NA19068.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0066 a0001c0003t0001g0242 a0001c0003t0001g0066 a0001c0003t0001g0242	2	299	0.0067	38	c.508 others(57): Show c.5080-1147_5080-1146insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390304	T T	TTTTATAT others(31): Show TTTTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0170 a0001c0001t0004g0170	1	299	0.0033	38	c.38+ others(55): Show c.38+15957_38+15958insTATATATATATATATATATATATATATA TATATATAAA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390304	T T	TTTTATAT others(31): Show TTTTATATATATATATATTATATATATATATATATAATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0275 a0001c0001t0007g0275	1	299	0.0033	38	c.38+ others(55): Show c.38+15957_38+15958insTATTATATATATATATATATAATATATA TATATATAAA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390330	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	299	0.0033	38	c.38+ others(55): Show c.38+15931_38+15932insGATATATATATATATATATATATATATA TATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390330	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATCTATC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	299	0.0033	38	c.38+ others(55): Show c.38+15931_38+15932insGATAGATATATATATATATATATATATA TATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288240	C C	CGTGTCCC others(31): Show CGTGTCCCTGCTCCGTCCCGTGTCCCCGCTCCATTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02155.hp1 HG02165.hp1 others(1): Show HG02071.hp1 HG02155.hp1 HG02165.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0002g0026 a0001c0001t0002g0150 a0001c0001t0001g0017 a0001c0001t0002g0026 a0001c0001t0002g0150	4	295	0.0136	38	c.53 others(49): Show c.5323_*5324insAGGGAATGGAGCGGGGACACGGGACGGAGCAGGG ACAC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4150		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288299	G G	GTCTCTGC others(31): Show GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0086	1	295	0.0034	38	c.52 others(49): Show c.5264_*5265insGACACGGGACGGGGCAGAGACACGGGACGGGGCA GAGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4091		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288347	C C	CCCCGTGT others(31): Show CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 NA19070.hp2 HG00735.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0014 a0001c0001t0001g0040	2	295	0.0068	38	c.52 others(49): Show c.5216_*5217insACGGGGCAGAGACACGGGGGACGGAGCAGAGACA CGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4043		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288442	T T	TGTCTCTG others(31): Show TGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0045 a0001c0002t0001g0046	2	295	0.0068	38	c.51 others(49): Show c.5121_*5122insTCGGGGGACGGGGCAGAGACACGGGACGGGGCAG AGAC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3948		chr1	TogoVar

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