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
ACAP3_chr1_1287391_1312930	1293731	A A	ACGCCCCT others(13): Show ACGCCCCTGCCCTGGAGGCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(115): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02109.hp1 HG02132.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18948.hp2 NA18950.hp2 NA18956.hp1 NA18962.hp2 NA18967.hp1 NA18971.hp2 NA18973.hp1 NA18990.hp1 NA18995.hp1 NA19002.hp1 NA19030.hp1 NA19043.hp2 NA19067.hp2 NA19070.hp2 NA19079.hp2 NA19081.hp1 NA19087.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0007 a0001c0010 others(9): Show a0001c0001 a0001c0007 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0023 a0001c0024 a0002c0006 a0003c0004 a0008c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0007t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0001c0013t0001 a0001c0015t0001 a0001c0023t0006 a0001c0024t0006 a0002c0006t0005 a0003c0004t0001 a0008c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(79): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0004g0006 a0001c0001t0004g0034 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0005g0156 a0001c0001t0005g0157 a0001c0001t0005g0158 a0001c0001t0005g0210 a0001c0001t0005g0219 a0001c0001t0007g0171 a0001c0001t0011g0074 a0001c0001t0014g0221 a0001c0007t0001g0212 a0001c0007t0001g0213 a0001c0010t0001g0197 a0001c0011t0001g0168 a0001c0012t0001g0192 a0001c0013t0001g0047 a0001c0015t0001g0179 a0001c0023t0006g0218 a0001c0024t0006g0072 a0002c0006t0005g0098 a0002c0006t0005g0208 a0003c0004t0001g0216 a0008c0008t0001g0035	118	295	0.4000	20	c.236 others(35): Show c.2361-43_2361-24dupGGGCCTCCAGGGCAGGGGCG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	23/23			chr1	TogoVar
ACAP3_chr1_1287391_1312930	1293734	C C	ACCCTGCC others(13): Show ACCCTGCCCTGGAGGCCCCGC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03490.hp1 NA18947.hp2 others(2): Show HG02165.hp2 HG03490.hp1 NA18947.hp2 NA18955.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0120 others(2): Show a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0120 a0001c0001t0002g0138 a0001c0001t0003g0002	5	295	0.0170	20	c.236 others(35): Show c.2361-26_2361-25insCGGGGCCTCCAGGGCAGGGT	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	23/23			chr1	TogoVar
ACAT1_chr11_108116567_108152603	108131354	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02056.hp1 HG02818.hp2 others(4): Show HG02004.hp2 HG02056.hp1 HG02818.hp2 HG03453.hp1 NA18946.hp2 NA19075.hp1 NA19075.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0007 a0001c0001t0001 a0002c0002t0002 a0002c0002t0007	a0001c0001t0001g0044 a0001c0001t0001g0089 a0001c0001t0001g0090 others(4): Show a0001c0001t0001g0044 a0001c0001t0001g0089 a0001c0001t0001g0090 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0007g0058	7	386	0.0181	20	c.73- others(33): Show c.73-535_73-534insTTTTTTTTTTTTTTTTTTTT	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACAT1_chr11_108116567_108152603	108151631	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0173 a0001c0003t0003g0173	1	386	0.0026	20	c.42 others(31): Show c.4241_*4242insAAAAAAAAAAAAAAAAAAAA	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding		4029		chr11	TogoVar
ACAT2_chr6_159757045_159784112	159771066	A A	AAAATTAA others(13): Show AAAATTAAATTAAATTAAATT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03098.hp1 HG02818.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0082 a0001c0001t0001g0083	2	404	0.0050	20	c.490 others(37): Show c.490+2447_490+2466dupTTAAATTAAATTAAATTAAA	ACAT2	ENSG00000120437.9	transcript	ENST00000367048.5	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
ACBD3_chr1_226139679_226191741	226172155	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03688.hp1 NA18949.hp1 others(6): Show HG00609.hp1 HG03688.hp1 NA18949.hp1 NA18951.hp2 NA19003.hp2 NA19065.hp2 NA19066.hp2 NA19088.hp2 NA19090.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0004 a0008c0008 a0001c0001 a0001c0004 a0008c0008	a0001c0001t0001 a0001c0004t0001 a0008c0008t0001 a0001c0001t0001 a0001c0004t0001 a0008c0008t0001	a0001c0001t0001g0019 a0001c0001t0001g0344 a0001c0001t0001g0355 others(5): Show a0001c0001t0001g0019 a0001c0001t0001g0344 a0001c0001t0001g0355 a0001c0001t0001g0362 a0001c0001t0001g0366 a0001c0001t0001g0371 a0001c0004t0001g0363 a0008c0008t0001g0372	9	396	0.0227	20	c.287 others(37): Show c.287-6156_287-6155insTTTTTTTTTTTTTTTTTTTT	ACBD3	ENSG00000182827.9	transcript	ENST00000366812.6	protein_coding	1/7			chr1	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(13): Show ATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01099.hp1 HG01993.hp2 others(1): Show HG01070.hp2 HG01099.hp1 HG01993.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0220 a0001c0002t0001g0229 a0001c0002t0001g0270 others(1): Show a0001c0002t0001g0220 a0001c0002t0001g0229 a0001c0002t0001g0270 a0001c0002t0001g0271	4	384	0.0104	20	c.375 others(37): Show c.375+2932_375+2933insAAAAAAAATATATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01346.hp1 HG00544.hp2 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0251 a0001c0002t0001g0252 a0001c0001t0001g0251 a0001c0002t0001g0252	2	384	0.0052	20	c.375 others(37): Show c.375+2932_375+2933insAAAAAAAAAATATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0297 a0001c0002t0001g0297	1	384	0.0026	20	c.375 others(37): Show c.375+2932_375+2933insAAAAAAAAAAAATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACCS_chr11_44061270_44089237	44072148	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(78): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG01109.hp1 HG01168.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG02055.hp1 HG02132.hp2 HG02145.hp1 HG02258.hp2 HG02293.hp1 HG02486.hp1 HG02615.hp1 HG02630.hp1 HG02735.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03492.hp1 HG03654.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18952.hp1 NA18953.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18963.hp2 NA18973.hp1 NA18979.hp1 NA18982.hp2 NA18987.hp1 NA18993.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp2 NA19011.hp2 NA19012.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19065.hp1 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19084.hp2 NA19089.hp2 NA20752.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0010	a0001c0001 a0001c0017 a0002c0003 others(7): Show a0001c0001 a0001c0017 a0002c0003 a0002c0004 a0002c0018 a0003c0002 a0003c0008 a0004c0005 a0008c0011 a0010c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 a0001c0017t0005 a0002c0003t0001 a0002c0003t0002 a0002c0003t0008 a0002c0004t0001 a0002c0004t0002 a0002c0004t0007 a0002c0018t0001 a0003c0002t0001 a0003c0008t0001 a0004c0005t0001 a0008c0011t0001 a0010c0016t0001	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0040 others(55): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0250 a0001c0001t0002g0156 a0001c0001t0009g0133 a0001c0001t0012g0174 a0001c0017t0005g0176 a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0003t0001g0011 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0045 a0002c0003t0001g0135 a0002c0003t0001g0149 a0002c0003t0001g0150 a0002c0003t0001g0162 a0002c0003t0001g0164 a0002c0003t0001g0180 a0002c0003t0001g0182 a0002c0003t0001g0184 a0002c0003t0001g0261 a0002c0003t0001g0278 a0002c0003t0002g0007 a0002c0003t0002g0011 a0002c0003t0008g0007 a0002c0003t0008g0181 a0002c0004t0001g0142 a0002c0004t0001g0143 a0002c0004t0001g0157 a0002c0004t0001g0175 a0002c0004t0001g0192 a0002c0004t0001g0274 a0002c0004t0002g0183 a0002c0004t0007g0136 a0002c0018t0001g0179 a0003c0002t0001g0098 a0003c0008t0001g0055 a0004c0005t0001g0275 a0008c0011t0001g0022 a0010c0016t0001g0161	81	438	0.1849	20	c.348 others(35): Show c.348+842_348+861dupTTTATTTATTTATTTATTTA	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACCS_chr11_44061270_44089237	44074734	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01433.hp2 HG02258.hp2 others(3): Show HG00735.hp1 HG01433.hp2 HG02258.hp2 HG02683.hp2 HG03579.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0004 a0003c0002 a0002c0004 a0003c0002	a0002c0004t0001 a0003c0002t0001 a0003c0002t0002 a0002c0004t0001 a0003c0002t0001 a0003c0002t0002	a0002c0004t0001g0065 a0002c0004t0001g0072 a0002c0004t0001g0190 others(3): Show a0002c0004t0001g0065 a0002c0004t0001g0072 a0002c0004t0001g0190 a0003c0002t0001g0098 a0003c0002t0002g0224 a0003c0002t0002g0225	6	438	0.0137	20	c.489 others(33): Show c.489+75_489+94dupCTTTCTTTCTTTCTTTCTTT	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER1_chr19_6301142_6338612	6324860	A A	AAAGGAAG others(13): Show AAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01261.hp2 NA18951.hp1 HG00609.hp2 HG01261.hp2 NA18951.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0019 a0002c0002t0001g0242 a0002c0002t0001g0317 a0001c0001t0001g0019 a0002c0002t0001g0242 a0002c0002t0001g0317	3	396	0.0076	20	c.93+ others(35): Show c.93+8579_93+8598dupCCTTCCTTCCTTCCTTCCTT	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5			chr19	TogoVar
ACER1_chr19_6301142_6338612	6324860	A A	AAAGGAAG others(13): Show AAAGGAAGGGAGGGAGGAAGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02145.hp2 HG02717.hp2 others(4): Show HG00741.hp2 HG02145.hp2 HG02717.hp2 HG02818.hp1 HG03098.hp1 HG03098.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0149 others(4): Show a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0004g0150	7	396	0.0177	20	c.93+ others(35): Show c.93+8598_93+8599insCCTTCCTCCCTCCCTTCCTT	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5			chr19	TogoVar
ACER1_chr19_6301142_6338612	6329356	T T	TATAGAAT others(13): Show TATAGAATAGAATAGAATAGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01070.hp1 HG01071.hp1 others(48): Show HG00639.hp1 HG01070.hp1 HG01071.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01928.hp1 HG01928.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02258.hp2 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02698.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 NA18612.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18959.hp2 NA18966.hp1 NA18974.hp1 NA18977.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp2 NA19000.hp1 NA19009.hp2 NA19012.hp2 NA19070.hp1 NA19074.hp2 NA19084.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0002c0002t0001 a0002c0005t0001	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(47): Show a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0131 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0003g0188 a0001c0003t0001g0365 a0001c0004t0001g0388 a0001c0006t0001g0314 a0002c0002t0001g0002 a0002c0002t0001g0042 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0106 a0002c0002t0001g0111 a0002c0002t0001g0113 a0002c0002t0001g0127 a0002c0002t0001g0136 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0312 a0002c0005t0001g0363	51	396	0.1288	20	c.93+ others(35): Show c.93+4083_93+4102dupTCTATTCTATTCTATTCTAT	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5			chr19	TogoVar
ACER2_chr9_19404009_19457505	19428008	T T	TTTTCCTT others(13): Show TTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18966.hp2 NA19004.hp2 others(1): Show HG00438.hp2 NA18966.hp2 NA19004.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0001 a0001c0001t0007 a0002c0002t0001	a0001c0001t0007g0259 a0002c0002t0001g0139 a0002c0002t0001g0243 others(1): Show a0001c0001t0007g0259 a0002c0002t0001g0139 a0002c0002t0001g0243 a0002c0002t0001g0258	4	358	0.0112	20	c.365 others(37): Show c.365+3220_365+3239dupTCCTTTCCTTTCCTTTCCTT	ACER2	ENSG00000177076.6	transcript	ENST00000340967.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
ACER3_chr11_76855918_77031797	76932894	C C	CAATAAAG others(13): Show CAATAAAGGCAGAATCTATGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02630.hp1 HG02717.hp2 others(1): Show HG01074.hp2 HG02630.hp1 HG02717.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0195 a0001c0001t0017g0196 a0001c0001t0017g0197 others(1): Show a0001c0001t0017g0195 a0001c0001t0017g0196 a0001c0001t0017g0197 a0001c0001t0017g0198	4	346	0.0116	20	c.214 others(37): Show c.214+6230_214+6249dupTAAAGGCAGAATCTATGAAA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	76933173	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA19074.hp1 HG01192.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0057 a0001c0001t0012 a0001c0001t0057	a0001c0001t0012g0179 a0001c0001t0057g0329 a0001c0001t0012g0179 a0001c0001t0057g0329	2	346	0.0058	20	c.214 others(37): Show c.214+6507_214+6526dupATATATATATATATATATAT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77024272	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0052 a0001c0001t0077g0052	1	346	0.0029	20	c.39 others(31): Show c.3955_*3974dupAAAAAAAAAAAAAAAAAAAA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	11/11	3975	INFO_REALIGN_3_PRIME	chr11	TogoVar
ACKR2_chr3_42804445_42872286	42828092	A A	ATATATAT others(13): Show ATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA19000.hp1 HG00423.hp1 NA19000.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0249 a0002c0003t0005g0251 a0002c0003t0005g0249 a0002c0003t0005g0251	2	342	0.0059	20	c.-38 others(37): Show c.-38+8382_-38+8383insATATATATATATTTTTTTTT	ACKR2	ENSG00000144648.16	transcript	ENST00000422265.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACKR2_chr3_42804445_42872286	42828092	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0245 a0002c0003t0005g0245	1	342	0.0029	20	c.-38 others(37): Show c.-38+8382_-38+8383insATATATATATTTTTTTTTTT	ACKR2	ENSG00000144648.16	transcript	ENST00000422265.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACKR3_chr2_236564825_236587354	236566718	C C	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01884.hp2 HG01891.hp1 others(36): Show HG01346.hp2 HG01884.hp2 HG01891.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02572.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03139.hp1 HG03209.hp2 HG03579.hp2 HG06807.hp1 NA18948.hp2 NA18950.hp2 NA18959.hp1 NA18961.hp2 NA18970.hp1 NA18979.hp2 NA18984.hp1 NA18988.hp2 NA18995.hp1 NA19003.hp1 NA19011.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0002c0004t0001 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(26): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0003g0001 a0001c0002t0001g0015 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0069 a0001c0002t0001g0109 a0001c0002t0001g0111 a0001c0002t0001g0116 a0001c0002t0002g0023 a0001c0002t0005g0086 a0001c0002t0007g0081 a0002c0004t0001g0027 a0002c0004t0001g0117 a0003c0005t0001g0028	39	394	0.0990	20	c.-32 others(31): Show c.-3233_-3232insCCTTCCTTCCTTCCTTCCTT	ACKR3	ENSG00000144476.6	transcript	ENST00000272928.4	protein_coding		3106		chr2	TogoVar
ACLY_chr17_41861918_41923951	41865493	T T	TGCGCCGC others(13): Show TGCGCCGCCTCGCCTCCAGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01433.hp2 HG03490.hp2 others(1): Show HG01346.hp1 HG01433.hp2 HG03490.hp2 NA18968.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0004 a0002c0002t0003 a0001c0003t0004 a0002c0002t0003	a0001c0003t0004g0247 a0002c0002t0003g0260 a0002c0002t0003g0285 others(1): Show a0001c0003t0004g0247 a0002c0002t0003g0260 a0002c0002t0003g0285 a0002c0002t0003g0290	4	294	0.0136	20	c.23 others(31): Show c.2316_*2317insTGCTGGAGGCGAGGCGGCGC	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding		1424		chr17	TogoVar
ACLY_chr17_41861918_41923951	41879647	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18965.hp1 HG01496.hp2 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0076 a0001c0001t0001g0016 a0001c0001t0001g0076	2	294	0.0068	20	c.226 others(37): Show c.2266-743_2266-724dupTTTTTTTTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	20/28			chr17	TogoVar
ACLY_chr17_41861918_41923951	41889524	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0028 a0006c0006t0001g0028	1	294	0.0034	20	c.177 others(39): Show c.1771-1841_1771-1822dupTTTTTTTTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	16/28			chr17	TogoVar
ACLY_chr17_41861918_41923951	41900069	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0265 a0002c0002t0003g0265	1	294	0.0034	20	c.118 others(39): Show c.1184-1304_1184-1285dupTTTTTTTTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	11/28			chr17	TogoVar
ACMSD_chr2_134833616_134907034	134834771	G G	GGGAAGGA others(13): Show GGGAAGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01261.hp2 HG01515.hp1 others(9): Show HG00642.hp2 HG01261.hp2 HG01515.hp1 HG02145.hp1 HG02293.hp1 HG02717.hp2 HG02735.hp1 HG02970.hp2 HG03130.hp1 HG03688.hp2 NA18983.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0097 a0001c0001t0001g0119 others(9): Show a0001c0001t0001g0020 a0001c0001t0001g0097 a0001c0001t0001g0119 a0001c0001t0001g0132 a0001c0001t0001g0184 a0001c0001t0001g0211 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0337 a0001c0001t0001g0354 a0001c0001t0001g0356 a0001c0001t0001g0357	12	382	0.0314	20	c.-39 others(31): Show c.-3912_-3911insGGAAGGAAGGAAGGAAGGAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3844		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834775	G G	GGGAAGGA others(13): Show GGGAAGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 NA18963.hp1 HG06807.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0135 a0001c0001t0001g0040 a0001c0001t0001g0135	2	382	0.0052	20	c.-39 others(31): Show c.-3908_-3907insGGAAGGAAGGAAGGAAGGAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3840		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834807	A A	AGGAAGGA others(13): Show AGGAAGGAAGGAAGGAAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 NA18975.hp1 others(1): Show HG02896.hp1 HG02897.hp1 NA18975.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0061 a0001c0001t0001g0365 others(1): Show a0001c0001t0001g0050 a0001c0001t0001g0061 a0001c0001t0001g0365 a0001c0001t0001g0366	4	382	0.0105	20	c.-38 others(31): Show c.-3876_-3875insGGAAGGAAGGAAGGAAGGAG	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3808		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834807	A A	AGGAAGGA others(13): Show AGGAAGGAAGGAGGGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	382	0.0026	20	c.-38 others(31): Show c.-3876_-3875insGGAAGGAAGGAGGGAGGGAG	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3808		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834808	G G	GGAAGGAA others(13): Show GGAAGGAAGGAAGGAAGGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	382	0.0026	20	c.-38 others(31): Show c.-3875_-3874insGAAGGAAGGAAGGAAGGAAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3807		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834851	G G	GGGAGGGA others(13): Show GGGAGGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG02155.hp1 HG03017.hp1 others(4): Show HG00438.hp1 HG02155.hp1 HG03017.hp1 NA18985.hp1 NA18991.hp1 NA19079.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0046 a0001c0001t0001g0047 others(4): Show a0001c0001t0001g0028 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0099 a0001c0001t0001g0213 a0001c0001t0001g0279 a0001c0001t0001g0298	7	382	0.0183	20	c.-38 others(31): Show c.-3832_-3831insGGAGGGAAGGAAGGAAGGAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3764		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834851	G G	GGGAGGGA others(13): Show GGGAGGGAGGGAGGGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18993.hp2 NA19075.hp1 NA18940.hp1 NA18993.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0253 a0001c0001t0001g0276 a0001c0001t0001g0242 a0001c0001t0001g0253 a0001c0001t0001g0276	3	382	0.0079	20	c.-38 others(31): Show c.-3832_-3831insGGAGGGAGGGAGGGAAAGAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3764		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134840167	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	382	0.0026	20	c.57+ others(35): Show c.57+1435_57+1454dupAAAAAAAAAAAAAAAAAAAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOD1_chr13_76943511_76963638	76944257	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 NA18961.hp2 NA18968.hp2 others(3): Show HG02129.hp1 NA18961.hp2 NA18968.hp2 NA18979.hp2 NA18980.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0019 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0002t0001g0004	6	434	0.0138	20	c.-43 others(31): Show c.-4302_-4301insAAAAAAAAAAAAAAAAAAAA	ACOD1	ENSG00000102794.11	transcript	ENST00000377462.6	protein_coding		4253		chr13	TogoVar
ACOT4_chr14_73586873_73600766	73597094	A A	ATTTATTT others(13): Show ATTTATTTATTTATTTATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0047 a0002c0002t0003g0047	1	408	0.0025	20	c.14 others(31): Show c.1440_*1441insTTTATTTATTTATTTATTTT	ACOT4	ENSG00000177465.5	transcript	ENST00000326303.5	protein_coding		1329		chr14	TogoVar
ACOT7_chr1_6259272_6398767	6308792	A A	AGGAAAAG others(13): Show AGGAAAAGCGACTGGGCGGAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01106.hp1 others(35): Show HG00738.hp2 HG01070.hp2 HG01106.hp1 HG01255.hp2 HG01256.hp2 HG01346.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp2 HG01993.hp2 HG02027.hp2 HG02055.hp1 HG02559.hp2 HG02717.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03492.hp2 HG03669.hp2 HG03942.hp1 NA18946.hp1 NA18962.hp2 NA18982.hp1 NA18991.hp2 NA18998.hp1 NA19009.hp1 NA19060.hp2 NA19083.hp2 NA19085.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0003 a0001c0004t0003 a0001c0004t0010 a0001c0005t0017 a0001c0007t0004 a0001c0008t0003	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0002g0132 others(35): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0002t0003g0178 a0001c0004t0003g0148 a0001c0004t0010g0150 a0001c0005t0017g0228 a0001c0007t0004g0193 a0001c0008t0003g0149	38	240	0.1583	20	c.712 others(37): Show c.712+9680_712+9699dupCTCCGCCCAGTCGCTTTTCC	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	6/8			chr1	TogoVar
ACOT7_chr1_6259272_6398767	6308792	A A	AGGCAAAG others(13): Show AGGCAAAGCGACTGGGCGGAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0160 a0001c0001t0003g0160	1	240	0.0042	20	c.712 others(37): Show c.712+9699_712+9700insCTCCGCCCAGTCGCTTTGCC	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	6/8			chr1	TogoVar
ACOT7_chr1_6259272_6398767	6308820	C C	CGACTGGG others(13): Show CGACTGGGCGGAGGGAAAAGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp1 HG01175.hp2 others(13): Show HG00735.hp2 HG01074.hp1 HG01175.hp2 HG01243.hp2 HG01884.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02818.hp1 HG02976.hp1 HG03209.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0055 a0001c0001t0003g0157 a0001c0001t0003g0158 others(13): Show a0001c0001t0001g0055 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0161 a0001c0001t0003g0166 a0001c0001t0004g0199 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0236 a0001c0001t0005g0222 a0001c0001t0006g0227	16	240	0.0667	20	c.712 others(37): Show c.712+9671_712+9672insACTTTTCCCTCCGCCCAGTC	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	6/8			chr1	TogoVar
ACOT7_chr1_6259272_6398767	6308821	G G	GACTGGGC others(13): Show GACTGGGCGGAGGGAAAAGCA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02723.hp1 HG02280.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0234 a0001c0001t0004g0235	2	240	0.0083	20	c.712 others(37): Show c.712+9670_712+9671insTGCTTTTCCCTCCGCCCAGT	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	6/8			chr1	TogoVar
ACOT8_chr20_45836721_45862392	45841392	A A	AGCTGGGA others(13): Show AGCTGGGAGGCTGCAGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	422	0.0024	20	c.42 others(29): Show c.426_*445dupACCCTCTGCAGCCTCCCAGC	ACOT8	ENSG00000101473.17	transcript	ENST00000217455.9	protein_coding		328		chr20	TogoVar
ACOT9_chrX_23696055_23748276	23742209	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp1 HG01433.hp1 others(9): Show HG00140.hp1 HG01106.hp1 HG01433.hp1 HG01934.hp1 HG02622.hp2 HG02886.hp2 HG02897.hp2 HG03098.hp1 HG03225.hp1 HG03516.hp2 NA18955.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0027 a0001c0001t0031 a0001c0002t0013	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 others(9): Show a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0005g0045 a0001c0001t0005g0048 a0001c0001t0006g0050 a0001c0001t0008g0046 a0001c0001t0008g0049 a0001c0001t0027g0051 a0001c0001t0031g0052 a0001c0002t0013g0047	12	309	0.0388	20	c.20+ others(33): Show c.20+915_20+916insTCTCTCTCTCTCTCTCTCTC	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	1/15			chrX	TogoVar
ACOT9_chrX_23696055_23748276	23742256	G G	GAGAGAGA others(13): Show GAGAGAGAGAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02559.hp2 HG03130.hp1 HG02132.hp1 HG02559.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0008 a0001c0001t0009	a0001c0001t0008g0085 a0001c0001t0008g0086 a0001c0001t0009g0229 a0001c0001t0008g0085 a0001c0001t0008g0086 a0001c0001t0009g0229	3	309	0.0097	20	c.20+ others(33): Show c.20+868_20+869insATCTCTCTCTCTCTCTCTCT	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	1/15			chrX	TogoVar
ACOX1_chr17_75936507_75984166	75968435	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG04115.hp2 NA18987.hp1 others(4): Show HG03516.hp1 HG04115.hp2 NA18987.hp1 NA18991.hp1 NA18994.hp2 NA19002.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0003 a0001c0001t0018 a0001c0001t0022 others(3): Show a0001c0001t0003 a0001c0001t0018 a0001c0001t0022 a0001c0001t0026 a0002c0002t0006 a0003c0005t0055	a0001c0001t0003g0081 a0001c0001t0003g0091 a0001c0001t0018g0118 others(4): Show a0001c0001t0003g0081 a0001c0001t0003g0091 a0001c0001t0018g0118 a0001c0001t0022g0153 a0001c0001t0026g0101 a0002c0002t0006g0110 a0003c0005t0055g0157	7	344	0.0204	20	c.270 others(37): Show c.270-8080_270-8061dupTTTTTTTTTTTTTTTTTTTT	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75970184	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03831.hp2 NA18953.hp1 others(1): Show HG03516.hp1 HG03831.hp2 NA18953.hp1 NA18978.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0002 a0001c0001t0018 a0001c0001t0022 others(1): Show a0001c0001t0002 a0001c0001t0018 a0001c0001t0022 a0006c0013t0003	a0001c0001t0002g0053 a0001c0001t0018g0118 a0001c0001t0022g0126 others(1): Show a0001c0001t0002g0053 a0001c0001t0018g0118 a0001c0001t0022g0126 a0006c0013t0003g0109	4	344	0.0116	20	c.269 others(37): Show c.269+8349_269+8350insTTTTTTTTTTTTTTTTTTTT	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75978082	C C	CTTTATTT others(13): Show CTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03579.hp2 NA18944.hp1 others(2): Show HG00423.hp2 HG03579.hp2 NA18944.hp1 NA19080.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0004 a0001c0001t0015 a0001c0001t0038 others(1): Show a0001c0001t0004 a0001c0001t0015 a0001c0001t0038 a0001c0008t0004	a0001c0001t0004g0336 a0001c0001t0015g0337 a0001c0001t0015g0338 others(2): Show a0001c0001t0004g0336 a0001c0001t0015g0337 a0001c0001t0015g0338 a0001c0001t0038g0339 a0001c0008t0004g0335	5	344	0.0145	20	c.269 others(35): Show c.269+432_269+451dupTAAATAAATAAATAAATAAA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACOX2_chr3_58500136_58542190	58541624	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03942.hp1 others(1): Show HG02896.hp1 HG02897.hp2 HG03942.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0004t0002 a0001c0005t0003 a0001c0001t0001 a0001c0004t0002 a0001c0005t0003	a0001c0001t0001g0129 a0001c0004t0002g0052 a0001c0005t0003g0291 others(1): Show a0001c0001t0001g0129 a0001c0004t0002g0052 a0001c0005t0003g0291 a0001c0005t0003g0292	4	364	0.0110	20	c.-45 others(31): Show c.-4598_-4597insCACACACACACACACACACA	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding		4435		chr3	TogoVar
ACOX3_chr4_8361282_8445723	8395350	G G	GGGTGGGT others(13): Show GGGTGGGTGGATGCGTGGACA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp2 HG03540.hp2 others(1): Show HG02486.hp1 HG02559.hp2 HG03540.hp2 HG03579.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0240 a0002c0004t0003g0242 a0002c0004t0003g0243 others(1): Show a0002c0004t0003g0240 a0002c0004t0003g0242 a0002c0004t0003g0243 a0002c0004t0003g0244	4	380	0.0105	20	c.105 others(37): Show c.1057-628_1057-609dupTGTCCACGCATCCACCCACC	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	9/17			chr4	TogoVar
ACOXL_chr2_110727573_111123548	110769226	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0146 a0006c0006t0002g0146	1	150	0.0067	20	c.75+ others(33): Show c.75+782_75+801dupGAAAGAAAGAAAGAAAGAAA	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOXL_chr2_110727573_111123548	110811730	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18612.hp1 HG03688.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0137 a0001c0001t0002g0105 a0001c0001t0001g0137 a0001c0001t0002g0105	2	150	0.0133	20	c.753 others(37): Show c.753+6372_753+6391dupACACACACACACACACACAC	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACOXL_chr2_110727573_111123548	110846636	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02004.hp2 NA18962.hp2 HG01981.hp2 HG02004.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0088 a0001c0003t0001g0041 a0001c0003t0001g0090 a0001c0001t0001g0088 a0001c0003t0001g0041 a0001c0003t0001g0090	3	150	0.0200	20	c.788 others(37): Show c.788+5235_788+5236insACACACACACACACACACAC	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr2	TogoVar

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