Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ALLC_chr2_3653200_3707671	3697621	G G	GTCTGTCT others(13): Show GTCTGTCTGTCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0042 a0003c0003t0002g0042	1	274	0.0037	20	c.850 others(35): Show c.850+168_850+169insGTCTGTCTATCTATCTATCT	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3697621	G G	GTCTGTCT others(13): Show GTCTGTCTGTCTGTCTGTCTA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03041.hp1 HG02818.hp2 HG03041.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0010c0014 a0002c0002 a0010c0014	a0002c0002t0002 a0010c0014t0002 a0002c0002t0002 a0010c0014t0002	a0002c0002t0002g0150 a0010c0014t0002g0246 a0002c0002t0002g0150 a0010c0014t0002g0246	2	274	0.0073	20	c.850 others(35): Show c.850+168_850+169insGTCTGTCTGTCTGTCTATCT	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73474407	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTCTGTGTC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01943.hp1 HG01993.hp1 others(6): Show HG01433.hp2 HG01943.hp1 HG01993.hp1 HG02004.hp2 HG02293.hp1 HG02300.hp1 NA18966.hp1 NA19079.hp1 NA19081.hp1	a0005 a0005	a0005c0005 a0005c0058 a0005c0005 a0005c0058	a0005c0005t0001 a0005c0058t0001 a0005c0005t0001 a0005c0058t0001	a0005c0005t0001g0106 a0005c0005t0001g0108 a0005c0005t0001g0111 others(6): Show a0005c0005t0001g0106 a0005c0005t0001g0108 a0005c0005t0001g0111 a0005c0005t0001g0112 a0005c0005t0001g0113 a0005c0005t0001g0114 a0005c0005t0001g0117 a0005c0005t0001g0118 a0005c0058t0001g0110	9	248	0.0363	20	c.767 others(41): Show c.7675-15224_7675-15223insGTGTGTGTGTCTGTGTCTGT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOX12_chr17_6991049_7015754	7006054	T T	TGGGGGGG others(13): Show TGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0154 a0001c0003t0001g0154	1	404	0.0025	20	c.141 others(35): Show c.1418+31_1418+32insGGGGGGGGGGGGGGGGGGGG	ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX12_chr17_6991049_7015754	7006059	C C	CGGGGGGG others(13): Show CGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02523.hp1 HG00609.hp2 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0084 a0002c0002t0001g0074 a0002c0002t0001g0084	2	404	0.0050	20	c.141 others(35): Show c.1418+32_1418+33insGGGGGGGGGGGGGGGGGGGG	ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding	10/13			chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8040601	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00621.hp2 others(16): Show HG00099.hp2 HG00280.hp1 HG00621.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp2 HG01175.hp1 HG01934.hp2 HG01981.hp1 HG02451.hp1 HG03654.hp2 NA18952.hp2 NA18957.hp2 NA18963.hp1 NA18989.hp2 NA19009.hp1 NA19059.hp1 NA19065.hp1 NA19079.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0003 a0003c0004 others(1): Show a0001c0001 a0002c0003 a0003c0004 a0004c0007	a0001c0001t0001 a0002c0003t0001 a0003c0004t0002 others(2): Show a0001c0001t0001 a0002c0003t0001 a0003c0004t0002 a0003c0004t0005 a0004c0007t0003	a0001c0001t0001g0028 a0001c0001t0001g0216 a0001c0001t0001g0217 others(11): Show a0001c0001t0001g0028 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0002c0003t0001g0223 a0003c0004t0002g0220 a0003c0004t0005g0070 a0003c0004t0005g0275 a0004c0007t0003g0071 a0004c0007t0003g0224 a0004c0007t0003g0225	19	470	0.0404	20	c.449 others(35): Show c.449+652_449+671dupGAAAGAAAGAAAGAAAGAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8040601	G G	GAGAGAGA others(13): Show GAGAGAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 NA18522.hp2 HG02145.hp2 HG02258.hp1 NA18522.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0002 a0001c0008t0001 a0001c0008t0002	a0001c0008t0001g0239 a0001c0008t0002g0072 a0001c0008t0001g0239 a0001c0008t0002g0072	3	470	0.0064	20	c.449 others(35): Show c.449+621_449+622insGAGAAAGAAAGAAAGAAAGA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8040646	A A	AGAAAGAA others(13): Show AGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03654.hp1 HG01884.hp2 HG03654.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0125 a0001c0010t0004g0126 a0001c0010t0004g0125 a0001c0010t0004g0126	2	470	0.0043	20	c.449 others(35): Show c.449+671_449+672insGAAAGAAAGAAGGAAAGAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8044105	G G	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02080.hp2 HG02622.hp2 others(5): Show HG01123.hp1 HG02080.hp2 HG02622.hp2 HG02723.hp1 HG02970.hp2 HG03579.hp2 NA19056.hp2 NA19060.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0016	a0001c0001 a0002c0002 a0003c0004 others(2): Show a0001c0001 a0002c0002 a0003c0004 a0009c0025 a0016c0050	a0001c0001t0016 a0002c0002t0002 a0003c0004t0002 others(2): Show a0001c0001t0016 a0002c0002t0002 a0003c0004t0002 a0009c0025t0004 a0016c0050t0002	a0001c0001t0016g0163 a0002c0002t0002g0173 a0002c0002t0002g0210 others(4): Show a0001c0001t0016g0163 a0002c0002t0002g0173 a0002c0002t0002g0210 a0003c0004t0002g0151 a0003c0004t0002g0262 a0009c0025t0004g0062 a0016c0050t0002g0208	8	470	0.0170	20	c.677 others(35): Show c.677-694_677-675dupGGAAGGAAGGAAGGAAGGAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8044151	G G	GGAAGGAA others(13): Show GGAAGGAAGGAAGGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0009 a0009	a0009c0052 a0009c0052	a0009c0052t0002 a0009c0052t0002	a0009c0052t0002g0156 a0009c0052t0002g0156	1	470	0.0021	20	c.677 others(35): Show c.677-675_677-674insGGAAGGAAGGAAAGAAAGAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8044151	G G	GGAAGGAA others(13): Show GGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01070.hp1 HG01070.hp2 others(31): Show HG00733.hp1 HG01070.hp1 HG01070.hp2 HG01516.hp2 HG01517.hp2 HG02132.hp1 HG02258.hp1 HG02486.hp2 HG02615.hp1 HG02809.hp2 HG02896.hp2 HG03130.hp2 HG03486.hp2 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG04199.hp2 NA18522.hp2 NA18945.hp1 NA18950.hp1 NA18960.hp1 NA18964.hp1 NA18965.hp1 NA18970.hp2 NA18973.hp2 NA18979.hp1 NA18985.hp2 NA18989.hp1 NA18993.hp1 NA19067.hp1 NA19067.hp2 NA19082.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0009	a0001c0008 a0001c0010 a0002c0002 others(4): Show a0001c0008 a0001c0010 a0002c0002 a0004c0006 a0007c0012 a0007c0034 a0009c0051	a0001c0008t0001 a0001c0008t0002 a0001c0010t0001 others(6): Show a0001c0008t0001 a0001c0008t0002 a0001c0010t0001 a0002c0002t0002 a0002c0002t0006 a0004c0006t0003 a0007c0012t0002 a0007c0034t0002 a0009c0051t0001	a0001c0008t0001g0145 a0001c0008t0002g0041 a0001c0008t0002g0072 others(19): Show a0001c0008t0001g0145 a0001c0008t0002g0041 a0001c0008t0002g0072 a0001c0010t0001g0141 a0002c0002t0002g0022 a0002c0002t0002g0031 a0002c0002t0002g0045 a0002c0002t0002g0048 a0002c0002t0002g0053 a0002c0002t0002g0103 a0002c0002t0002g0110 a0002c0002t0002g0123 a0002c0002t0006g0022 a0002c0002t0006g0031 a0004c0006t0003g0027 a0004c0006t0003g0144 a0004c0006t0003g0177 a0004c0006t0003g0198 a0004c0006t0003g0231 a0007c0012t0002g0116 a0007c0034t0002g0117 a0009c0051t0001g0237	34	470	0.0723	20	c.677 others(35): Show c.677-675_677-674insGGAAGGAAGGAAGGAAAGAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8049283	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG01099.hp1 others(11): Show HG00639.hp2 HG01081.hp1 HG01099.hp1 HG01167.hp1 HG01346.hp2 HG01496.hp2 HG01928.hp2 HG01993.hp2 HG03225.hp1 HG03710.hp1 HG03831.hp1 HG04199.hp2 HG04204.hp1 NA19080.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0005 a0002c0002 a0009c0052 a0001c0005 a0002c0002 a0009c0052	a0001c0005t0002 a0002c0002t0002 a0009c0052t0002 a0001c0005t0002 a0002c0002t0002 a0009c0052t0002	a0001c0005t0002g0020 a0002c0002t0002g0004 a0002c0002t0002g0020 others(9): Show a0001c0005t0002g0020 a0002c0002t0002g0004 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0031 a0002c0002t0002g0044 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0052 a0002c0002t0002g0103 a0002c0002t0002g0118 a0009c0052t0002g0156	14	470	0.0298	20	c.71 others(29): Show c.718_*719insAAAAAAAAAAAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		150		chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8049288	A A	AAAAAAAC others(13): Show AAAAAAACAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01070.hp2 HG01071.hp1 HG00323.hp2 HG01070.hp2 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0021 a0002c0002t0002g0045 a0002c0002t0002g0098 a0002c0002t0002g0021 a0002c0002t0002g0045 a0002c0002t0002g0098	3	470	0.0064	20	c.72 others(29): Show c.723_*724insAAAAAACAAAAAAAAAAAAC	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		155		chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8050306	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00609.hp1 HG00639.hp2 others(37): Show HG00323.hp2 HG00609.hp1 HG00639.hp2 HG00733.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01517.hp1 HG01993.hp2 HG02698.hp1 HG02886.hp2 HG03486.hp2 HG03490.hp1 HG03669.hp1 HG04199.hp2 HG04204.hp1 NA18941.hp2 NA18950.hp1 NA18953.hp1 NA18955.hp2 NA18959.hp2 NA18964.hp1 NA18965.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18982.hp2 NA18987.hp2 NA19055.hp1 NA19085.hp1 NA19089.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0010	a0001c0005 a0002c0002 a0002c0039 others(3): Show a0001c0005 a0002c0002 a0002c0039 a0007c0012 a0010c0018 a0010c0032	a0001c0005t0004 a0002c0002t0001 a0002c0002t0002 others(5): Show a0001c0005t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0039t0006 a0007c0012t0002 a0010c0018t0002 a0010c0032t0001	a0001c0005t0004g0002 a0001c0005t0004g0043 a0002c0002t0001g0008 others(30): Show a0001c0005t0004g0002 a0001c0005t0004g0043 a0002c0002t0001g0008 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0017 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0045 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0098 a0002c0002t0002g0100 a0002c0002t0002g0104 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0118 a0002c0002t0006g0022 a0002c0039t0006g0257 a0007c0012t0002g0021 a0007c0012t0002g0032 a0007c0012t0002g0114 a0010c0018t0002g0021 a0010c0018t0002g0035 a0010c0032t0001g0035	40	470	0.0851	20	c.17 others(31): Show c.1741_*1742insAAAAAAAAAAAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		1173		chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8105954	A A	ATGGGGTA others(13): Show ATGGGGTATTAACAGGGTGAG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0020 a0002c0003t0001g0020	1	422	0.0024	20	c.168 others(39): Show c.1685-1740_1685-1739insCTCACCCTGTTAATACCCCA	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107965	G G	GAAAGAAA others(13): Show GAAAGAAAGAAAAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	422	0.0024	20	c.168 others(37): Show c.1684+502_1684+503insTCTCTCTCTTTTCTTTCTTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALPI_chr2_232451153_232465753	232465431	T T	TTTTTATT others(13): Show TTTTTATTTTATTTTATTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG02055.hp2 HG02109.hp1 others(19): Show HG01981.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02451.hp1 HG02486.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0016 a0001c0001 a0001c0003 a0001c0016	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0016t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0003g0001 a0001c0001t0003g0011 a0001c0003t0001g0002 a0001c0016t0002g0007	22	446	0.0493	20	c.62 others(31): Show c.6285_*6286insTTTTATTTTATTTTATTTTA	ALPI	ENSG00000163295.5	transcript	ENST00000295463.4	protein_coding		4679		chr2	TogoVar
ALPK2_chr18_58476247_58634091	58521625	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0068 a0004c0004t0002g0068	1	320	0.0031	20	c.566 others(39): Show c.5665+2180_5665+2181insAAAAAAAAAAAAAAAAAAAA	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	8/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58578733	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00438.hp1 others(9): Show HG00099.hp1 HG00099.hp2 HG00438.hp1 HG01175.hp2 HG02257.hp1 HG02257.hp2 HG02896.hp2 HG02897.hp2 HG03453.hp1 HG03516.hp1 NA19030.hp1 NA20300.hp2	a0004 a0007 a0011 others(3): Show a0004 a0007 a0011 a0019 a0020 a0028	a0004c0004 a0007c0007 a0011c0020 others(4): Show a0004c0004 a0007c0007 a0011c0020 a0011c0021 a0019c0032 a0020c0019 a0028c0055	a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 others(8): Show a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0005 a0007c0007t0001 a0007c0007t0010 a0011c0020t0008 a0011c0021t0001 a0019c0032t0004 a0020c0019t0022 a0028c0055t0005	a0004c0004t0001g0260 a0004c0004t0002g0078 a0004c0004t0003g0125 others(9): Show a0004c0004t0001g0260 a0004c0004t0002g0078 a0004c0004t0003g0125 a0004c0004t0005g0228 a0007c0007t0001g0285 a0007c0007t0010g0099 a0007c0007t0010g0100 a0011c0020t0008g0143 a0011c0021t0001g0275 a0019c0032t0004g0316 a0020c0019t0022g0233 a0028c0055t0005g0163	12	320	0.0375	20	c.196 others(35): Show c.1962+61_1962+80dupGTGTGTGTGTGTGTGTGTGT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58578734	A A	ACACACAC others(13): Show ACACACACACGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0006 a0006	a0006c0034 a0006c0034	a0006c0034t0004 a0006c0034t0004	a0006c0034t0004g0247 a0006c0034t0004g0247	1	320	0.0031	20	c.196 others(35): Show c.1962+79_1962+80insCGCGCGCGCGCGTGTGTGTG	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58578738	A A	ACACACGC others(13): Show ACACACGCGCGCACGCGCGCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00558.hp2 others(31): Show HG00280.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG02015.hp1 HG02027.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG04199.hp1 NA18946.hp2 NA18960.hp1 NA18963.hp1 NA18971.hp1 NA18983.hp1 NA18991.hp1 NA19002.hp2 NA19005.hp2 NA19010.hp2 NA19012.hp2 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp2 NA19074.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0023 a0055 a0056 a0059	a0001c0001 a0001c0016 a0002c0002 others(6): Show a0001c0001 a0001c0016 a0002c0002 a0002c0079 a0005c0005 a0023c0026 a0055c0090 a0056c0091 a0059c0088	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0024 a0001c0016t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0079t0001 a0005c0005t0004 a0023c0026t0001 a0055c0090t0001 a0056c0091t0003 a0059c0088t0012	a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 others(31): Show a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0188 a0001c0001t0001g0213 a0001c0001t0001g0266 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0003g0203 a0001c0001t0003g0223 a0001c0001t0006g0029 a0001c0001t0006g0073 a0001c0001t0024g0299 a0001c0016t0001g0303 a0002c0002t0001g0126 a0002c0002t0001g0174 a0002c0002t0001g0185 a0002c0002t0001g0215 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0180 a0002c0002t0004g0121 a0002c0002t0007g0061 a0002c0079t0001g0220 a0005c0005t0004g0127 a0023c0026t0001g0128 a0055c0090t0001g0132 a0056c0091t0003g0131 a0059c0088t0012g0102	34	320	0.1063	20	c.196 others(35): Show c.1962+75_1962+76insCGCGCGCGTGCGCGCGTGTG	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPL_chr1_21504423_21583410	21527015	G G	GTTCTTTT others(13): Show GTTCTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02109.hp1 HG02630.hp1 others(1): Show HG01192.hp2 HG02109.hp1 HG02630.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0012 a0002c0002 others(1): Show a0001c0001 a0001c0012 a0002c0002 a0004c0006	a0001c0001t0008 a0001c0012t0004 a0002c0002t0016 others(1): Show a0001c0001t0008 a0001c0012t0004 a0002c0002t0016 a0004c0006t0004	a0001c0001t0008g0260 a0001c0012t0004g0121 a0002c0002t0016g0276 others(1): Show a0001c0001t0008g0260 a0001c0012t0004g0121 a0002c0002t0016g0276 a0004c0006t0004g0168	4	370	0.0108	20	c.-10 others(41): Show c.-105+17510_-105+17529dupTCTTTTCTTTTCTTTTCTTT	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALPL_chr1_21504423_21583410	21578470	A A	AGAACTGG others(13): Show AGAACTGGCCTCAGGGCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0115 a0002c0002t0001g0115	1	370	0.0027	20	c.82 others(29): Show c.822_*823insGAACTGGCCTCAGGGCCCGG	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding		61		chr1	TogoVar
ALPP_chr2_232373751_232387889	232385077	G G	GAAGAGGA others(13): Show GAAGAGGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0004 a0005c0007t0004	a0005c0007t0004g0010 a0005c0007t0004g0010	1	410	0.0024	20	c.32 others(31): Show c.3282_*3283insAAGAGGAAGAAGAAGAAGAA	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2189		chr2	TogoVar
ALYREF_chr17_81882835_81896586	81892542	T T	TTTTTTTT others(13): Show TTTTTTTTTTTTTTTTTTTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	322	0.0031	20	c.-96 others(29): Show c.-963_-962insTCAAAAAAAAAAAAAAAAAA	ALYREF	ENSG00000183684.8	transcript	ENST00000505490.3	protein_coding		957		chr17	TogoVar
AMACR_chr5_33981165_34013050	34008101	C C	CCGGCGCC others(13): Show CCGGCGCCACGCCCCCAGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0046 a0001c0001t0016g0046	2	438	0.0046	20	c.-83 others(27): Show c.-83_-82insCGGCTGGGGGCGTGGCGCCG	AMACR	ENSG00000242110.9	transcript	ENST00000335606.11	protein_coding		52		chr5	TogoVar
AMBN_chr4_70587256_70612288	70588707	C C	CTCTCTCT others(13): Show CTCTCTCTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	480	0.0021	20	c.-36 others(31): Show c.-3652_-3651insTCTCTCTATATATATATATA	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding		3548		chr4	TogoVar
AMBN_chr4_70587256_70612288	70588707	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	480	0.0021	20	c.-36 others(31): Show c.-3652_-3651insTCTCTCTCTCTCTCTCTATA	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding		3548		chr4	TogoVar
AMBP_chr9_114055127_114083300	114066376	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp2 HG01358.hp1 others(9): Show HG00140.hp1 HG00741.hp2 HG01358.hp1 HG03098.hp2 NA18942.hp1 NA18954.hp2 NA18971.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19005.hp2 NA19058.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0110 a0001c0001t0001g0123 a0001c0001t0001g0127 others(9): Show a0001c0001t0001g0110 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0163 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0198 a0001c0001t0001g0286 a0001c0001t0001g0297 a0005c0006t0001g0072	12	454	0.0264	20	c.603 others(37): Show c.603+3303_603+3322dupACACACACACACACACACAC	AMBP	ENSG00000106927.12	transcript	ENST00000265132.8	protein_coding	6/9			chr9	TogoVar
AMBRA1_chr11_46391414_46599023	46419995	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01361.hp2 HG01496.hp2 others(11): Show HG00735.hp1 HG01361.hp2 HG01496.hp2 HG02004.hp1 HG02004.hp2 HG02280.hp1 HG02622.hp2 HG02818.hp1 HG02976.hp2 HG03710.hp2 NA18960.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0008 a0001c0012t0001 a0001c0001t0001 a0001c0001t0008 a0001c0012t0001	a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0035 others(11): Show a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0140 a0001c0001t0001g0157 a0001c0001t0008g0024 a0001c0012t0001g0094	14	160	0.0875	20	c.297 others(39): Show c.2977-1963_2977-1944dupGTGTGTGTGTGTGTGTGTGT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	14/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46527477	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03704.hp1 HG03688.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0073 a0001c0001t0001g0074	2	160	0.0125	20	c.207 others(41): Show c.2072+14448_2072+14467dupTTTTTTTTTTTTTTTTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	7/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46552368	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	160	0.0063	20	c.-12 others(39): Show c.-120-3888_-120-3869dupTTTTTTTTTTTTTTTTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46568803	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	160	0.0063	20	c.-12 others(41): Show c.-120-20323_-120-20304dupAAAAAAAAAAAAAAAAAAAA	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585679	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	160	0.0063	20	c.-12 others(39): Show c.-121+8148_-121+8149insATATATATATATATATATAT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	160	0.0063	20	c.-12 others(39): Show c.-121+8113_-121+8132dupATATATATATATATATATAT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMDHD1_chr12_95938331_95973720	95954573	T T	TAAATAAA others(13): Show TAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp1 NA18977.hp1 HG01081.hp2 HG02055.hp1 NA18977.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0003 a0002c0003t0009 a0002c0003t0015 a0001c0002t0003 a0002c0003t0009 a0002c0003t0015	a0001c0002t0003g0274 a0002c0003t0009g0092 a0002c0003t0015g0089 a0001c0002t0003g0274 a0002c0003t0009g0092 a0002c0003t0015g0089	3	404	0.0074	20	c.245 others(35): Show c.245-319_245-300dupTAAAATAAAATAAAATAAAA	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95971936	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0092 a0002c0003t0009g0092	1	404	0.0025	20	c.40 others(31): Show c.4093_*4094insTTTTTTTTTTTTTTTTTTTT	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding		3217		chr12	TogoVar
AMDHD2_chr16_2515371_2536417	2533430	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00639.hp1 others(28): Show HG00438.hp2 HG00621.hp1 HG00639.hp1 HG01496.hp2 HG01928.hp1 HG01952.hp1 HG02015.hp1 HG02071.hp2 HG02148.hp1 HG02155.hp1 HG02738.hp2 HG02965.hp1 HG03831.hp2 HG04199.hp1 HG04199.hp2 NA18948.hp1 NA18957.hp1 NA18968.hp2 NA18971.hp1 NA18972.hp1 NA18983.hp1 NA18983.hp2 NA18995.hp2 NA18998.hp1 NA19004.hp2 NA19077.hp2 NA19079.hp1 NA19085.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0013 a0001c0003t0001 a0001c0001t0001 a0001c0001t0013 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0071 a0001c0001t0013g0085 a0001c0003t0001g0013	31	318	0.0975	20	c.38 others(31): Show c.3867_*3868insTTTTTTTTTTTTTTTTTTTT	AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding		2014		chr16	TogoVar
AMDHD2_chr16_2515371_2536417	2534773	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	318	0.0031	20	c.52 others(31): Show c.5210_*5211insTTTTTTTTTTTTTTTTTTTT	AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding		3357		chr16	TogoVar
AMER2_chr13_25156679_25177288	25174782	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01261.hp2 NA18945.hp2 others(1): Show HG01106.hp2 HG01261.hp2 NA18945.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0001g0000 a0001c0001t0004g0000	4	416	0.0096	20	c.-31 others(31): Show c.-3164_-3163insGGAAGGAAGGAAGGAAGGAA	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2495		chr13	TogoVar
AMER2_chr13_25156679_25177288	25174825	C C	CCTTCCTT others(13): Show CCTTCCTTCCTTCCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01167.hp2 HG01169.hp1 others(5): Show HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01978.hp2 NA18961.hp1 NA18994.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0030 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0030 a0001c0001t0083 a0001c0015t0005	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0030g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0030g0000 a0001c0001t0083g0000 a0001c0015t0005g0000	8	416	0.0192	20	c.-32 others(31): Show c.-3207_-3206insAAAGAAAGGAAGGAAGGAAG	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2538		chr13	TogoVar
AMER2_chr13_25156679_25177288	25174825	C C	CCTTCCTT others(13): Show CCTTCCTTCCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02965.hp2 HG03704.hp1 others(1): Show HG00544.hp1 HG02965.hp2 HG03704.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0062 a0001c0001t0004 a0001c0001t0005 a0001c0001t0062	a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0062g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0062g0000	4	416	0.0096	20	c.-32 others(31): Show c.-3207_-3206insAAAGAAAGAAAGGAAGGAAG	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2538		chr13	TogoVar
AMER2_chr13_25156679_25177288	25174825	C C	CCTTCCTT others(13): Show CCTTCCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 NA18950.hp1 NA18957.hp1 others(2): Show HG01257.hp1 NA18950.hp1 NA18957.hp1 NA18964.hp1 NA18985.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0031 a0002c0002t0011 a0001c0001t0005 a0001c0001t0031 a0002c0002t0011	a0001c0001t0005g0000 a0001c0001t0031g0000 a0002c0002t0011g0000 a0001c0001t0005g0000 a0001c0001t0031g0000 a0002c0002t0011g0000	5	416	0.0120	20	c.-32 others(31): Show c.-3207_-3206insAAAGAAAGAAAGAAAGGAAG	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2538		chr13	TogoVar
AMER2_chr13_25156679_25177288	25174825	C C	CCTTTCTT others(13): Show CCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	416	0.0024	20	c.-32 others(31): Show c.-3207_-3206insAAAGAAAGAAAGAAAGAAAG	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2538		chr13	TogoVar
AMFR_chr16_56356452_56430545	56374415	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0208 a0001c0001t0010g0208	1	356	0.0028	20	c.138 others(39): Show c.1381-5089_1381-5088insGTTTTGTTTTTTTTTTTTTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	10/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406552	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01433.hp2 HG01891.hp1 others(8): Show HG01346.hp2 HG01433.hp2 HG01891.hp1 HG01952.hp2 HG02145.hp2 HG03453.hp2 NA18962.hp2 NA18987.hp1 NA19060.hp2 NA19070.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0026 a0001c0001t0028 others(3): Show a0001c0001t0001 a0001c0001t0026 a0001c0001t0028 a0001c0001t0042 a0001c0001t0048 a0004c0005t0001	a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0166 others(8): Show a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0026g0225 a0001c0001t0028g0345 a0001c0001t0028g0346 a0001c0001t0042g0169 a0001c0001t0048g0319 a0004c0005t0001g0152	11	356	0.0309	20	c.667 others(37): Show c.667-1328_667-1309dupTTTTTTTTTTTTTTTTTTTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMIGO1_chr1_109499178_109514727	109501054	T T	TACACACA others(13): Show TACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG03130.hp1 NA19240.hp2 HG02257.hp2 HG03130.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	3	400	0.0075	20	c.63 others(31): Show c.6376_*6377insGTGTGTGTGTGTGTGTGTGT	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		3123		chr1	TogoVar
AMIGO1_chr1_109499178_109514727	109503476	T T	TCATATAT others(13): Show TCATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00597.hp2 others(15): Show HG00544.hp1 HG00597.hp1 HG00597.hp2 HG01074.hp1 HG02280.hp2 HG02622.hp1 HG02698.hp1 HG03490.hp2 NA18949.hp2 NA18965.hp1 NA18965.hp2 NA18973.hp1 NA18991.hp1 NA19060.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0001t0002 a0001c0001t0011 a0001c0001t0012	a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0028 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0028 a0001c0001t0011g0012 a0001c0001t0012g0014	18	400	0.0450	20	c.39 others(31): Show c.3954_*3955insTATATATATATATATATATG	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		701		chr1	TogoVar
AMOTL1_chr11_94763356_94881748	94840654	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0212 a0001c0001t0015g0212	1	246	0.0041	20	c.164 others(39): Show c.1648+9122_1648+9141dupTATATATATATATATATATA	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94840681	T T	TATATATA others(13): Show TATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0041 a0003c0004t0041	a0003c0004t0041g0210 a0003c0004t0041g0210	1	246	0.0041	20	c.164 others(39): Show c.1648+9141_1648+9142insTATATATATATATATACACA	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr11	TogoVar

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