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
AMFR_chr16_56356452_56430545	56374415	A A	AAAAAAAA others(7): Show AAAAAAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02559.hp1 HG02809.hp1 others(9): Show HG02083.hp1 HG02559.hp1 HG02809.hp1 HG02895.hp1 HG02965.hp1 HG03540.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA19240.hp2 NA20300.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0025 a0001c0001t0034 a0001c0001t0054 a0002c0003t0014	a0001c0001t0001g0304 a0001c0001t0003g0268 a0001c0001t0004g0171 others(9): Show a0001c0001t0001g0304 a0001c0001t0003g0268 a0001c0001t0004g0171 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0005g0006 a0001c0001t0014g0136 a0001c0001t0025g0183 a0001c0001t0034g0029 a0001c0001t0054g0348 a0002c0003t0014g0138 a0002c0003t0014g0139	12	356	0.0337	14	c.138 others(33): Show c.1381-5089_1381-5088insGTTTTGTTTTTTTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	10/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56374415	A A	AAAACAAA others(7): Show AAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG00639.hp1 others(132): Show HG00438.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp2 HG01256.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18987.hp1 NA18990.hp2 NA19000.hp1 NA19002.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0007 a0004c0005 a0001c0001 a0001c0007 a0004c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0022 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0048 a0001c0001t0052 a0001c0001t0053 a0001c0007t0001 a0004c0005t0001	a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0162 others(132): Show a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0238 a0001c0001t0003g0250 a0001c0001t0003g0272 a0001c0001t0003g0314 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0163 a0001c0001t0004g0172 a0001c0001t0004g0178 a0001c0001t0004g0181 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0316 a0001c0001t0005g0007 a0001c0001t0005g0009 a0001c0001t0005g0012 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0005g0020 a0001c0001t0005g0023 a0001c0001t0005g0026 a0001c0001t0005g0028 a0001c0001t0005g0033 a0001c0001t0005g0035 a0001c0001t0005g0037 a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0044 a0001c0001t0006g0004 a0001c0001t0006g0010 a0001c0001t0006g0015 a0001c0001t0006g0019 a0001c0001t0006g0021 a0001c0001t0006g0022 a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0006g0027 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0034 a0001c0001t0006g0038 a0001c0001t0006g0042 a0001c0001t0006g0134 a0001c0001t0010g0306 a0001c0001t0013g0331 a0001c0001t0015g0176 a0001c0001t0015g0284 a0001c0001t0015g0291 a0001c0001t0015g0300 a0001c0001t0016g0141 a0001c0001t0016g0148 a0001c0001t0016g0195 a0001c0001t0016g0200 a0001c0001t0022g0014 a0001c0001t0022g0043 a0001c0001t0025g0142 a0001c0001t0028g0345 a0001c0001t0028g0346 a0001c0001t0029g0002 a0001c0001t0031g0008 a0001c0001t0033g0013 a0001c0001t0040g0294 a0001c0001t0041g0161 a0001c0001t0042g0169 a0001c0001t0043g0197 a0001c0001t0048g0319 a0001c0001t0052g0344 a0001c0001t0053g0347 a0001c0007t0001g0168 a0004c0005t0001g0152	135	356	0.3792	14	c.138 others(33): Show c.1381-5089_1381-5088insGTTTTGTTTTGTTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	10/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56374415	A A	AAACCAAA others(7): Show AAACCAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0045 a0001c0001t0032g0045	1	356	0.0028	14	c.138 others(33): Show c.1381-5089_1381-5088insGTTTTGTTTTGGTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	10/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406552	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG02135.hp1 others(2): Show HG00423.hp1 HG00597.hp1 HG02135.hp1 HG03516.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0010 a0001c0002t0012 a0001c0001t0007 a0001c0001t0010 a0001c0002t0012	a0001c0001t0007g0047 a0001c0001t0010g0203 a0001c0001t0010g0206 others(2): Show a0001c0001t0007g0047 a0001c0001t0010g0203 a0001c0001t0010g0206 a0001c0001t0010g0208 a0001c0002t0012g0329	5	356	0.0140	14	c.667 others(31): Show c.667-1322_667-1309dupTTTTTTTTTTTTTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMIGO1_chr1_109499178_109514727	109501054	T T	TACACACA others(7): Show TACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00639.hp1 others(19): Show HG00597.hp1 HG00597.hp2 HG00639.hp1 HG02145.hp2 HG02280.hp1 HG02559.hp1 HG02622.hp1 HG02698.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03579.hp1 NA18522.hp1 NA18962.hp2 NA18983.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0031	a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0005g0005 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0005g0005 a0001c0001t0007g0007 a0001c0001t0031g0034	22	400	0.0550	14	c.63 others(25): Show c.6363_*6376dupGTGTGTGTGTGTGT	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		3123		chr1	TogoVar
AMIGO1_chr1_109499178_109514727	109501069	A A	ACACACAC others(7): Show ACACACACACACACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	400	0.0025	14	c.63 others(25): Show c.6361_*6362insCGTGTGTGTGTGTG	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		3108		chr1	TogoVar
AMIGO1_chr1_109499178_109514727	109503476	T T	TCATATAT others(7): Show TCATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18953.hp2 NA18981.hp1 others(2): Show NA18944.hp2 NA18953.hp2 NA18981.hp1 NA19002.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0002 a0001c0001t0012g0014 a0001c0001t0002g0002 a0001c0001t0012g0014	5	400	0.0125	14	c.39 others(25): Show c.3954_*3955insTATATATATATATG	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		701		chr1	TogoVar
AMIGO1_chr1_109499178_109514727	109503476	T T	TTATATAT others(7): Show TTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG02723.hp2 HG01256.hp2 HG01258.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0023 a0001c0001t0005 a0001c0001t0023	a0001c0001t0005g0005 a0001c0001t0023g0025 a0001c0001t0005g0005 a0001c0001t0023g0025	3	400	0.0075	14	c.39 others(25): Show c.3954_*3955insTATATATATATATA	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		701		chr1	TogoVar
AMMECR1_chrX_110189186_110323085	110217502	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	155	0.0065	14	c.585 others(29): Show c.585-884_585-871dupGTGTGTGTGTGTGT	AMMECR1	ENSG00000101935.13	transcript	ENST00000262844.10	protein_coding	2/5			chrX	TogoVar
AMOTL1_chr11_94763356_94881748	94799297	T T	TGGGGTAG others(7): Show TGGGGTAGTGGGGGG	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0023 a0001c0001t0025g0023	1	246	0.0041	14	c.200 others(27): Show c.200-92_200-91insGGGTAGTGGGGGGG	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94840654	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02965.hp2 HG01243.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0020 a0001c0001t0017 a0001c0001t0020	a0001c0001t0017g0204 a0001c0001t0020g0153 a0001c0001t0017g0204 a0001c0001t0020g0153	2	246	0.0081	14	c.164 others(33): Show c.1648+9128_1648+9141dupTATATATATATATA	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
AMOTL2_chr3_134350347_134379447	134372530	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp2 HG01071.hp2 others(14): Show HG00323.hp2 HG01069.hp2 HG01071.hp2 HG01496.hp1 HG01934.hp1 HG02273.hp1 HG02300.hp2 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 NA18953.hp1 NA19084.hp1	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0011	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0010c0014 a0011c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0030 a0001c0005t0004 a0001c0005t0011 a0001c0005t0023 a0002c0002t0003 a0010c0014t0005 a0011c0024t0013	a0001c0001t0001g0020 a0001c0001t0002g0026 a0001c0001t0002g0027 others(9): Show a0001c0001t0001g0020 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0036 a0001c0001t0009g0127 a0001c0001t0030g0120 a0001c0005t0004g0144 a0001c0005t0011g0145 a0001c0005t0023g0062 a0002c0002t0003g0025 a0010c0014t0005g0140 a0011c0024t0013g0106	17	336	0.0506	14	c.-61 others(31): Show c.-61-1050_-61-1037dupGTGTGTGTGTGTGT	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	1/9			chr3	TogoVar
AMPD1_chr1_114668098_114700546	114695931	A A	ACACACAC others(7): Show ACACACACGCACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01891.hp2 HG02257.hp1 others(5): Show HG01433.hp2 HG01891.hp2 HG02257.hp1 HG02698.hp1 HG02922.hp1 HG03098.hp2 NA18964.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0092 a0001c0001t0001g0093 others(4): Show a0001c0001t0001g0026 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0119	8	358	0.0224	14	c.-46 others(23): Show c.-461_-460insCGTGTGCGTGTGTG	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding		386		chr1	TogoVar
AMPD2_chr1_109614837_109637051	109615620	A A	AAAAGAAA others(7): Show AAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp2 NA18987.hp2 HG02083.hp1 HG02083.hp2 NA18987.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0008 a0002c0002t0002g0006 a0001c0001t0001g0008 a0002c0002t0002g0006	3	388	0.0077	14	c.-49 others(25): Show c.-4921_-4920insAAAGAAAAGAAAAG	AMPD2	ENSG00000116337.20	transcript	ENST00000528667.7	protein_coding		4216		chr1	TogoVar
AMPH_chr7_38378704_38636373	38406728	T T	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18971.hp1 NA18979.hp1 others(2): Show NA18943.hp1 NA18971.hp1 NA18979.hp1 NA19054.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0135 a0001c0001t0001g0147 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0135 a0001c0001t0001g0147 a0001c0001t0001g0174 a0001c0001t0001g0247	5	288	0.0174	14	c.139 others(35): Show c.1398+11096_1398+11097insGAGAGAGAGAGAGA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38407021	C C	CCTCTCTC others(7): Show CCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01106.hp1 HG01261.hp1 others(6): Show HG00558.hp2 HG01106.hp1 HG01261.hp1 HG02683.hp1 HG03669.hp1 HG04115.hp2 NA18965.hp2 NA18984.hp1 NA18986.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0002c0004t0005	a0001c0001t0001g0119 a0001c0001t0001g0172 a0001c0001t0001g0225 others(6): Show a0001c0001t0001g0119 a0001c0001t0001g0172 a0001c0001t0001g0225 a0001c0001t0001g0262 a0001c0001t0006g0089 a0001c0001t0006g0277 a0001c0002t0002g0064 a0001c0002t0002g0078 a0002c0004t0005g0051	9	288	0.0313	14	c.139 others(35): Show c.1398+10790_1398+10803dupAGAGAGAGAGAGAG	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38407048	C C	CTCTCTCT others(7): Show CTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	288	0.0035	14	c.139 others(35): Show c.1398+10776_1398+10777insTATAGAGAGAGAGA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38407048	C C	CTCTCTCT others(7): Show CTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0001 a0001c0003t0002g0001	1	288	0.0035	14	c.139 others(35): Show c.1398+10776_1398+10777insTAGAGAGAGAGAGA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38433724	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0004 a0001c0017t0004	a0001c0017t0004g0080 a0001c0017t0004g0080	1	288	0.0035	14	c.113 others(33): Show c.1135-1526_1135-1513dupTTTTTTTTTTTTTT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	12/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38437639	A A	AAAAAAAA others(7): Show AAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02056.hp1 HG02080.hp2 others(22): Show HG00621.hp1 HG02056.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02165.hp2 HG02257.hp1 HG02738.hp1 HG03491.hp1 HG03834.hp2 NA18612.hp1 NA18945.hp2 NA18959.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18988.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19056.hp1 NA19060.hp2 NA19084.hp1 NA19088.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0004c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0007t0001 a0001c0007t0005 a0004c0011t0001	a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0067 others(22): Show a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0099 a0001c0001t0001g0117 a0001c0001t0001g0130 a0001c0001t0001g0190 a0001c0001t0001g0218 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0260 a0001c0001t0003g0075 a0001c0001t0004g0244 a0001c0002t0002g0044 a0001c0002t0002g0191 a0001c0007t0001g0090 a0001c0007t0005g0222 a0001c0007t0005g0263 a0004c0011t0001g0072	25	288	0.0868	14	c.101 others(33): Show c.1018-1252_1018-1251insCTTTTCTTTTTTTT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38437639	A A	AAAAGAAA others(7): Show AAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	288	0.0035	14	c.101 others(33): Show c.1018-1252_1018-1251insCTTTTCTTTTCTTT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38525258	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	288	0.0035	14	c.150 others(31): Show c.150+9659_150+9672dupTATATATATATATA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	2/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38525277	T T	TATATATA others(7): Show TATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	288	0.0035	14	c.150 others(31): Show c.150+9653_150+9654insCTCTATATATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	2/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38620358	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG06807.hp1 NA18906.hp1 HG03453.hp1 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0003t0002g0160 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0003t0002g0160	3	288	0.0104	14	c.69+ others(31): Show c.69+10924_69+10925insGACACACACACACA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38627387	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0148	1	288	0.0035	14	c.69+ others(29): Show c.69+3882_69+3895dupTTTTTTTTTTTTTT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38632887	C C	CAGAGAGA others(7): Show CAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02717.hp1 HG02896.hp2 others(4): Show HG01884.hp2 HG02717.hp1 HG02896.hp2 HG03130.hp1 HG03471.hp2 HG04115.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0006 a0001c0001 a0002c0004 a0003c0006	a0001c0001t0001 a0001c0001t0004 a0002c0004t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0002c0004t0005 a0003c0006t0004	a0001c0001t0001g0087 a0001c0001t0004g0086 a0002c0004t0005g0051 others(4): Show a0001c0001t0001g0087 a0001c0001t0004g0086 a0002c0004t0005g0051 a0003c0006t0004g0061 a0003c0006t0004g0084 a0003c0006t0004g0085 a0003c0006t0004g0088	7	288	0.0243	14	c.-15 others(25): Show c.-1537_-1536insCTCTCTCTCTCTCT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding		1515		chr7	TogoVar
AMY2A_chr1_103612427_103630780	103612754	T T	TACACACA others(7): Show TACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG00642.hp2 others(17): Show HG00323.hp2 HG00597.hp2 HG00642.hp2 HG01256.hp1 HG01358.hp1 HG01891.hp1 HG01981.hp1 HG02647.hp1 HG02683.hp1 HG02809.hp2 HG03540.hp2 HG03710.hp1 HG06807.hp1 HG06807.hp2 NA18954.hp1 NA18970.hp2 NA18999.hp1 NA19006.hp2 NA19080.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0002t0001 a0002c0003t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0002 a0003c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0063 a0001c0002t0001g0004 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0063 a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0024 a0001c0002t0001g0039 a0001c0002t0001g0041 a0002c0003t0002g0002 a0003c0004t0001g0032	20	312	0.0641	14	c.-46 others(25): Show c.-4687_-4686insACACACACACACAC	AMY2A	ENSG00000243480.8	transcript	ENST00000414303.7	protein_coding		4672		chr1	TogoVar
AMZ1_chr7_2683202_2724683	2704588	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0048 a0002c0048	a0002c0048t0013 a0002c0048t0013	a0002c0048t0013g0390 a0002c0048t0013g0390	1	438	0.0023	14	c.472 others(31): Show c.472+1712_472+1725dupTTTTTTTTTTTTTT	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANAPC10_chr4_144989576_145103196	145026920	C C	CATATATA others(7): Show CATATATACATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01256.hp2 HG01258.hp2 others(5): Show HG00673.hp1 HG01256.hp2 HG01258.hp2 HG02129.hp1 HG02523.hp2 HG03492.hp1 HG03710.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0189 others(5): Show a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0213 a0001c0001t0001g0230	8	336	0.0238	14	c.328 others(33): Show c.328-31318_328-31317insATATATGTATATAT	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145026945	A A	ATATATAT others(7): Show ATATATATATATGTG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	336	0.0030	14	c.328 others(33): Show c.328-31343_328-31342insCACATATATATATA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145026957	G G	GTGTGTAT others(7): Show GTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	336	0.0030	14	c.328 others(33): Show c.328-31355_328-31354insTATATATATACACA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145026957	G G	GTGTGTGT others(7): Show GTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG04204.hp2 others(1): Show HG01891.hp1 HG02145.hp2 HG04204.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0249 others(1): Show a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0249 a0001c0001t0001g0250	4	336	0.0119	14	c.328 others(33): Show c.328-31355_328-31354insTATATATACACACA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145034523	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01358.hp2 HG01928.hp1 others(6): Show HG01081.hp1 HG01358.hp2 HG01928.hp1 HG03927.hp1 HG04204.hp1 NA18970.hp1 NA18992.hp2 NA19007.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0064 others(6): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0010g0127	9	336	0.0268	14	c.327 others(33): Show c.327+30035_327+30048dupTATATATATATATA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC10_chr4_144989576_145103196	145034543	A A	ATATATAT others(7): Show ATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	336	0.0030	14	c.327 others(33): Show c.327+30028_327+30029insCATATATATATATA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC13_chr3_134472706_134490985	134474506	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00735.hp1 HG00735.hp2 others(81): Show HG00423.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01175.hp2 HG01255.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01928.hp2 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02280.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03831.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18945.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp1 NA18978.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19006.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19068.hp2 NA19077.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0002t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(16): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0002g0006 a0001c0001t0002g0053 a0001c0001t0004g0026 a0001c0001t0004g0050 a0001c0001t0006g0019 a0001c0001t0008g0029 a0001c0002t0004g0018	84	394	0.2132	14	c.40 others(25): Show c.4083_*4084insAAAAAAAAAAAAAA	ANAPC13	ENSG00000129055.13	transcript	ENST00000354910.10	protein_coding		3199		chr3	TogoVar
ANAPC16_chr10_72211012_72240860	72218145	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19085.hp2 HG02965.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0054 a0001c0001t0003g0050 a0001c0001t0003g0054	2	352	0.0057	14	c.-28 others(31): Show c.-28+2015_-28+2028dupAAAAAAAAAAAAAA	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC16_chr10_72211012_72240860	72218161	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0216 a0001c0001t0005g0216	1	352	0.0028	14	c.-28 others(31): Show c.-28+2024_-28+2025insTATATATATATATA	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC16_chr10_72211012_72240860	72220325	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0302 a0001c0002t0004g0302	1	352	0.0028	14	c.-27 others(31): Show c.-27-3558_-27-3545dupAAAAAAAAAAAAAA	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC1_chr2_111762640_111889193	111764800	T T	TTATATAT others(7): Show TTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG01106.hp1 others(7): Show HG00099.hp2 HG00408.hp1 HG01106.hp1 HG01884.hp2 HG01978.hp2 HG02129.hp2 HG02698.hp2 HG03704.hp1 NA19072.hp1 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0014 a0001c0018 a0001c0002 a0001c0014 a0001c0018	a0001c0002t0002 a0001c0014t0002 a0001c0018t0002 a0001c0002t0002 a0001c0014t0002 a0001c0018t0002	a0001c0002t0002g0152 a0001c0002t0002g0197 a0001c0002t0002g0217 others(7): Show a0001c0002t0002g0152 a0001c0002t0002g0197 a0001c0002t0002g0217 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0244 a0001c0014t0002g0198 a0001c0018t0002g0365	10	370	0.0270	14	c.44 others(25): Show c.4477_*4490dupTATATATATATATA	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2839		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(7): Show TATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG03130.hp1 others(3): Show HG02258.hp1 HG02280.hp1 HG03130.hp1 HG03139.hp1 HG03516.hp2 NA20129.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0008 a0001c0008t0008	a0001c0008t0008g0004 a0001c0008t0008g0145 a0001c0008t0008g0146 others(2): Show a0001c0008t0008g0004 a0001c0008t0008g0145 a0001c0008t0008g0146 a0001c0008t0008g0147 a0001c0008t0008g0148	6	370	0.0162	14	c.44 others(25): Show c.4477_*4478insGTATATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2826		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111770201	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0143 a0001c0007t0002g0143	1	370	0.0027	14	c.572 others(31): Show c.5720-809_5720-796dupTATATATATATATA	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	47/47			chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111832937	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00741.hp2 HG01167.hp1 others(12): Show HG00544.hp2 HG00741.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01261.hp1 HG01496.hp2 HG01891.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG02717.hp1 HG02735.hp1 NA18969.hp2 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0007 a0001c0002 a0001c0003 a0001c0007	a0001c0002t0002 a0001c0003t0004 a0001c0007t0002 a0001c0002t0002 a0001c0003t0004 a0001c0007t0002	a0001c0002t0002g0001 a0001c0002t0002g0151 a0001c0002t0002g0190 others(10): Show a0001c0002t0002g0001 a0001c0002t0002g0151 a0001c0002t0002g0190 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0229 a0001c0002t0002g0234 a0001c0002t0002g0236 a0001c0003t0004g0277 a0001c0003t0004g0296 a0001c0003t0004g0303 a0001c0007t0002g0142 a0001c0007t0002g0143	15	370	0.0405	14	c.247 others(31): Show c.2476+269_2476+282dupTTTTTTTTTTTTTT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	20/47			chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111833681	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp2 HG00642.hp1 others(36): Show HG00280.hp1 HG00621.hp2 HG00642.hp1 HG00741.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01952.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02257.hp2 HG02293.hp2 HG02451.hp1 HG02717.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG03239.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp2 NA18940.hp2 NA18953.hp1 NA18964.hp1 NA18968.hp2 NA18973.hp1 NA18981.hp1 NA18989.hp2 NA19001.hp2 NA19062.hp2 NA19240.hp2 NA20805.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0001c0003 a0001c0004 others(4): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0016 a0007c0020	a0001c0002t0002 a0001c0003t0004 a0001c0004t0003 others(5): Show a0001c0002t0002 a0001c0003t0004 a0001c0004t0003 a0001c0006t0005 a0001c0007t0002 a0001c0007t0007 a0001c0016t0007 a0007c0020t0005	a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0196 others(36): Show a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0196 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0203 a0001c0002t0002g0224 a0001c0002t0002g0231 a0001c0002t0002g0238 a0001c0002t0002g0240 a0001c0003t0004g0268 a0001c0003t0004g0272 a0001c0003t0004g0273 a0001c0003t0004g0274 a0001c0003t0004g0279 a0001c0003t0004g0286 a0001c0003t0004g0287 a0001c0003t0004g0288 a0001c0003t0004g0289 a0001c0004t0003g0184 a0001c0004t0003g0189 a0001c0006t0005g0010 a0001c0006t0005g0011 a0001c0006t0005g0013 a0001c0006t0005g0019 a0001c0006t0005g0020 a0001c0006t0005g0021 a0001c0006t0005g0022 a0001c0006t0005g0028 a0001c0006t0005g0029 a0001c0007t0002g0140 a0001c0007t0002g0141 a0001c0007t0002g0142 a0001c0007t0002g0144 a0001c0007t0007g0255 a0001c0007t0007g0257 a0001c0007t0007g0258 a0001c0016t0007g0252 a0007c0020t0005g0009	39	370	0.1054	14	c.238 others(31): Show c.2385-371_2385-370insTTTTTTTTTTTTTT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	19/47			chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111833681	T T	TAAACAAA others(7): Show TAAACAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0197 a0001c0002t0002g0197	1	370	0.0027	14	c.238 others(31): Show c.2385-371_2385-370insTTTTTTTTTTGTTT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	19/47			chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111838085	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01884.hp2 HG02015.hp1 others(13): Show HG01361.hp2 HG01884.hp2 HG02015.hp1 HG02630.hp2 HG02723.hp2 HG02922.hp1 HG03540.hp1 NA18522.hp2 NA18940.hp2 NA18949.hp2 NA18955.hp1 NA18968.hp2 NA18972.hp2 NA18973.hp1 NA18978.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 others(1): Show a0001c0002 a0001c0004 a0001c0006 a0001c0014	a0001c0002t0002 a0001c0004t0003 a0001c0006t0005 others(1): Show a0001c0002t0002 a0001c0004t0003 a0001c0006t0005 a0001c0014t0002	a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0204 others(13): Show a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0225 a0001c0002t0002g0230 a0001c0002t0002g0235 a0001c0002t0002g0243 a0001c0002t0002g0245 a0001c0004t0003g0162 a0001c0004t0003g0166 a0001c0004t0003g0182 a0001c0004t0003g0251 a0001c0006t0005g0012 a0001c0006t0005g0013 a0001c0014t0002g0198	16	370	0.0432	14	c.211 others(31): Show c.2115+352_2115+353insTTTTTTTTTTTTTT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	18/47			chr2	TogoVar
ANAPC4_chr4_25372263_25423498	25422753	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18979.hp1 NA18612.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	2	456	0.0044	14	c.43 others(25): Show c.4371_*4372insTGTGTGTGTGTGTG	ANAPC4	ENSG00000053900.11	transcript	ENST00000315368.8	protein_coding		4256		chr4	TogoVar
ANAPC5_chr12_121303245_121357411	121338739	G G	GTATATTA others(7): Show GTATATTATAAAGTA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 NA19240.hp2 HG02258.hp2 HG02451.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227	3	278	0.0108	14	c.658 others(31): Show c.658-1348_658-1347insTACTTTATAATATA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding	5/16			chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121357400	G G	GAAAGAAA others(7): Show GAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01261.hp1 others(17): Show HG00741.hp1 HG00741.hp2 HG01261.hp1 HG01346.hp2 HG01517.hp1 HG02071.hp2 HG02080.hp2 HG02148.hp2 HG02300.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18962.hp1 NA19030.hp2 NA19063.hp1 NA19079.hp2 NA19084.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0001 a0001c0001t0001 a0002c0007t0001	a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 others(16): Show a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0149 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0231 a0002c0007t0001g0228	20	278	0.0719	14	c.-50 others(25): Show c.-5061_-5060insTTCTTTCTTTCTTT	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		4990		chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110368308	G G	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG03195.hp1 HG01109.hp2 HG01891.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0045 a0001c0001t0001g0249 a0001c0001t0001g0250	3	298	0.0101	14	c.58 others(25): Show c.5835_*5836insTTTTTTTTTTTTTT	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding		4591		chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110381037	T T	TGGGGGCG others(7): Show TGGGGGCGAGCGGTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	298	0.0034	14	c.113 others(31): Show c.1132+701_1132+714dupCACCGCTCGCCCCC	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	8/10			chr12	TogoVar

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