Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AIDA_chr1_222663013_222717491	222711554	TAACAGTC others(16): Show TAACAGTCCCAGAAACCGAAACGA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	368	0.0027	-23	c.110 others(38): Show c.110+631_110+653delTCGTTTCGGTTTCTGGGACTGTT	AIDA	ENSG00000186063.13	transcript	ENST00000340020.11	protein_coding	1/9			chr1	TogoVar
AIFM2_chr10_70107271_70137825	70133133	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0072 a0001c0005t0005g0074 a0001c0005t0005g0072 a0001c0005t0005g0074	2	468	0.0043	-23	c.-43 others(32): Show c.-436_-414delCTCTCTCTCTCTCTCTCTCTCTC	AIFM2	ENSG00000042286.15	transcript	ENST00000307864.3	protein_coding		309		chr10	TogoVar
AK5_chr1_77277019_77564966	77470844	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0238 a0002c0004t0002g0238	1	284	0.0035	-23	c.106 others(44): Show c.1060-12472_1060-12450delATATATATATATATATATATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13			chr1	TogoVar
AK5_chr1_77277019_77564966	77470846	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	284	0.0035	-23	c.106 others(44): Show c.1060-12470_1060-12448delATATATATATATATATATATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13			chr1	TogoVar
AK5_chr1_77277019_77564966	77470853	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp1 HG02559.hp2 HG02055.hp1 HG02559.hp1 HG02559.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0004 a0002c0002t0009 a0001c0003t0004 a0002c0002t0009	a0001c0003t0004g0257 a0002c0002t0009g0134 a0002c0002t0009g0137 a0001c0003t0004g0257 a0002c0002t0009g0134 a0002c0002t0009g0137	3	284	0.0106	-23	c.106 others(44): Show c.1060-12462_1060-12440delATATATATATATATATATATATT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK8_chr9_132720578_132883284	132749960	CGAGATAC others(16): Show CGAGATACTGACAGCACACTCCTA	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0001 a0009c0007t0001	a0009c0007t0001g0006 a0009c0007t0001g0006	1	266	0.0038	-23	c.112 others(44): Show c.1122-22449_1122-22427delTAGGAGTGTGCTGTCAGTATCTC	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	11/12			chr9	TogoVar
AK8_chr9_132720578_132883284	132749981	CTAGAGAT others(16): Show CTAGAGATACTGACAGCACACTCT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01433.hp2 HG01993.hp2 others(4): Show HG00735.hp2 HG01433.hp2 HG01993.hp2 HG02132.hp2 HG02273.hp2 NA18990.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0068 a0001c0001t0001g0137 others(4): Show a0001c0001t0001g0055 a0001c0001t0001g0068 a0001c0001t0001g0137 a0001c0001t0001g0153 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0239	7	266	0.0263	-23	c.112 others(44): Show c.1122-22470_1122-22448delAGAGTGTGCTGTCAGTATCTCTA	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	11/12			chr9	TogoVar
AKAP13_chr15_85375603_85754355	85442481	AATATATA others(16): Show AATATATATAATATATATTATATT	A A	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0015 a0015	a0015c0054 a0015c0054	a0015c0054t0004 a0015c0054t0004	a0015c0054t0004g0050 a0015c0054t0004g0050	1	314	0.0032	-23	c.-11 others(42): Show c.-11-43221_-11-43199delTAATATATATTATATTATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85740733	CACACAAC others(16): Show CACACAACCCACCCACCCACACAG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0012 a0011c0018t0012	a0011c0018t0012g0002 a0011c0018t0012g0002	1	314	0.0032	-23	c.760 others(40): Show c.7609-307_7609-285delACCCACCCACCCACACAGACACA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	34/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP17A_chrX_1586604_1607520	1587869	CCTTCCCC others(16): Show CCTTCCCCTCCCCTCTCCTCCCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02451.hp1 HG02451.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0002c0003 a0001c0012 a0002c0003	a0001c0012t0003 a0002c0003t0004 a0001c0012t0003 a0002c0003t0004	a0001c0012t0003g0124 a0002c0003t0004g0126 a0001c0012t0003g0124 a0002c0003t0004g0126	2	151	0.0133	-23	c.-39 others(34): Show c.-3919_-3897delCTTCCCCTCCCCTCTCCTCCCCA	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		3734		chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1587892	ACTTCCCC others(16): Show ACTTCCCCTCCCCTCTCCTCCCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	151	0.0066	-23	c.-38 others(34): Show c.-3896_-3874delCTTCCCCTCCCCTCTCCTCCCCC	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		3711		chrX	TogoVar
AKAP7_chr6_131130467_131288532	131247292	TATATATA others(16): Show TATATATATATATATATATATATG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03225.hp2 HG03516.hp1 others(2): Show HG01891.hp2 HG03225.hp2 HG03516.hp1 HG03540.hp1 NA18906.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0011	a0001c0001 a0003c0003 a0006c0006 others(1): Show a0001c0001 a0003c0003 a0006c0006 a0011c0007	a0001c0001t0031 a0003c0003t0032 a0006c0006t0014 others(1): Show a0001c0001t0031 a0003c0003t0032 a0006c0006t0014 a0011c0007t0029	a0001c0001t0031g0285 a0003c0003t0032g0301 a0006c0006t0014g0003 others(2): Show a0001c0001t0031g0285 a0003c0003t0032g0301 a0006c0006t0014g0003 a0006c0006t0014g0004 a0011c0007t0029g0227	5	304	0.0165	-23	c.850 others(42): Show c.850+27485_850+27507delATATATATATATATATATATATG	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7			chr6	TogoVar
ALDH1A1_chr9_72895671_72958053	72908536	AAAGAAAG others(16): Show AAAGAAAGAAAAGAAAGAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02886.hp1 HG06807.hp2 others(3): Show HG01123.hp2 HG02886.hp1 HG06807.hp2 NA18906.hp1 NA19076.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0141 a0001c0001t0002g0187 a0001c0001t0005g0290 others(3): Show a0001c0001t0001g0141 a0001c0001t0002g0187 a0001c0001t0005g0290 a0001c0001t0005g0294 a0001c0002t0001g0256 a0001c0002t0001g0275	6	306	0.0196	-23	c.135 others(42): Show c.1358+1043_1358+1065delCTTTCTTCTTTCTTTTCTTTCTT	ALDH1A1	ENSG00000165092.13	transcript	ENST00000297785.8	protein_coding	11/12			chr9	TogoVar
ALDH1A1_chr9_72895671_72958053	72908540	AAAGAAAA others(16): Show AAAGAAAAGAAAGAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp2 HG01074.hp2 others(17): Show HG00438.hp1 HG00741.hp2 HG01074.hp2 HG01169.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG02165.hp2 HG02258.hp2 HG03130.hp2 NA18612.hp1 NA18942.hp1 NA18969.hp2 NA18975.hp1 NA18983.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(14): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0099 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0193 a0001c0001t0001g0205 a0001c0001t0001g0284 a0001c0002t0001g0224 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0280	20	306	0.0654	-23	c.135 others(42): Show c.1358+1039_1358+1061delCTTTCTTTCTTCTTTCTTTTCTT	ALDH1A1	ENSG00000165092.13	transcript	ENST00000297785.8	protein_coding	11/12			chr9	TogoVar
ALDH1A2_chr15_57948429_58070711	57989669	TGCATCAT others(16): Show TGCATCATGTAATGTTATATTCAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp1 others(154): Show HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18985.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19074.hp1 NA19079.hp2 NA19082.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0002c0004	a0001c0001t0003 a0002c0002t0002 a0002c0002t0003 others(11): Show a0001c0001t0003 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0019 a0002c0002t0020 a0002c0002t0021 a0002c0002t0026 a0002c0003t0003 a0002c0004t0003	a0001c0001t0003g0154 a0002c0002t0002g0003 a0002c0002t0002g0057 others(152): Show a0001c0001t0003g0154 a0002c0002t0002g0003 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0092 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0136 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0264 a0002c0002t0002g0279 a0002c0002t0002g0320 a0002c0002t0003g0002 a0002c0002t0003g0010 a0002c0002t0003g0012 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0021 a0002c0002t0003g0022 a0002c0002t0003g0023 a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0031 a0002c0002t0003g0032 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0045 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0050 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0060 a0002c0002t0003g0074 a0002c0002t0003g0091 a0002c0002t0003g0297 a0002c0002t0003g0313 a0002c0002t0003g0314 a0002c0002t0003g0315 a0002c0002t0006g0081 a0002c0002t0006g0118 a0002c0002t0006g0143 a0002c0002t0006g0144 a0002c0002t0007g0006 a0002c0002t0007g0007 a0002c0002t0007g0008 a0002c0002t0007g0009 a0002c0002t0009g0169 a0002c0002t0009g0170 a0002c0002t0009g0171 a0002c0002t0010g0090 a0002c0002t0010g0108 a0002c0002t0011g0093 a0002c0002t0011g0096 a0002c0002t0019g0059 a0002c0002t0020g0088 a0002c0002t0021g0131 a0002c0002t0026g0099 a0002c0003t0003g0011 a0002c0003t0003g0015 a0002c0003t0003g0016 a0002c0003t0003g0017 a0002c0003t0003g0018 a0002c0003t0003g0019 a0002c0003t0003g0020 a0002c0003t0003g0028 a0002c0003t0003g0029 a0002c0003t0003g0030 a0002c0003t0003g0044 a0002c0003t0003g0046 a0002c0003t0003g0049 a0002c0003t0003g0051 a0002c0003t0003g0052 a0002c0003t0003g0053 a0002c0003t0003g0135 a0002c0003t0003g0150 a0002c0003t0003g0168 a0002c0003t0003g0195 a0002c0004t0003g0147 a0002c0004t0003g0148	157	326	0.4816	-23	c.798 others(40): Show c.798+3013_798+3035delCTGAATATAACATTACATGATGC	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	7/12			chr15	TogoVar
ALDH1A3_chr15_100874831_100921626	100877822	CCTGAGAC others(16): Show CCTGAGACCAGACGCCTCGGGTCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 NA18944.hp1 NA18961.hp1 others(3): Show HG01106.hp1 NA18944.hp1 NA18961.hp1 NA18965.hp2 NA19002.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0036 a0001c0001t0002g0100 a0001c0001t0006g0119 others(3): Show a0001c0001t0002g0036 a0001c0001t0002g0100 a0001c0001t0006g0119 a0001c0001t0006g0122 a0001c0001t0006g0123 a0001c0001t0006g0125	6	414	0.0145	-23	c.-20 others(34): Show c.-2085_-2063delCTGAGACCAGACGCCTCGGGTCA	ALDH1A3	ENSG00000184254.17	transcript	ENST00000329841.10	protein_coding		2008		chr15	TogoVar
ALG6_chr1_63362627_63443553	63382642	TTTTTTTT others(16): Show TTTTTTTTTGTTTGTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0185 a0001c0001t0004g0185	1	388	0.0026	-23	c.82+ others(40): Show c.82+11592_82+11614delGTTTGTTTTTTTTTGTTTTTTTT	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALG6_chr1_63362627_63443553	63382656	TTTTTTTT others(16): Show TTTTTTTTTGTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0332 a0001c0001t0004g0332	1	388	0.0026	-23	c.82+ others(40): Show c.82+11606_82+11628delGTTTTTTTTTTTTTGTTTTTTTT	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALKBH5_chr17_18178828_18214954	18201831	AGATAGAT others(16): Show AGATAGATGATAGATAGATTGATT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02895.hp2 HG03195.hp1 HG00280.hp2 HG02895.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0082 a0001c0001t0005g0029 a0001c0001t0003g0082 a0001c0001t0005g0029	3	418	0.0072	-23	c.852 others(40): Show c.852-4980_852-4958delAGATGATAGATAGATTGATTGAT	ALKBH5	ENSG00000091542.9	transcript	ENST00000399138.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX12_chr17_6991049_7015754	7004138	ATTAAAAT others(16): Show ATTAAAATTTAAATAAATTTAAAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp2 HG02922.hp1 others(1): Show HG02109.hp2 HG02615.hp2 HG02922.hp1 HG03579.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0041 a0001c0006t0001g0113 a0001c0006t0001g0129 a0001c0006t0001g0041 a0001c0006t0001g0113 a0001c0006t0001g0129	4	404	0.0099	-23	c.116 others(42): Show c.1162-1105_1162-1083delAAATTTAAATTTAAAATTTAAAT	ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX5_chr10_45369216_45451117	45391032	CCTCTCCC others(16): Show CCTCTCCCATCTCCCCTCTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00642.hp2 others(36): Show HG00140.hp2 HG00408.hp2 HG00642.hp2 HG01167.hp2 HG01433.hp1 HG01884.hp1 HG01891.hp2 HG01993.hp2 HG02027.hp1 HG02132.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02896.hp2 HG02970.hp2 HG03831.hp2 HG04204.hp2 HG04228.hp2 NA18942.hp1 NA18946.hp2 NA18954.hp2 NA18956.hp2 NA18962.hp1 NA18969.hp1 NA18973.hp1 NA18979.hp1 NA18988.hp1 NA18991.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19062.hp2 NA19070.hp2 NA19076.hp1 NA19085.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0022 a0001c0001 a0001c0002 a0001c0022	a0001c0001t0002 a0001c0002t0002 a0001c0002t0006 others(1): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0006 a0001c0022t0002	a0001c0001t0002g0305 a0001c0002t0002g0004 a0001c0002t0002g0025 others(32): Show a0001c0001t0002g0305 a0001c0002t0002g0004 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0313 a0001c0002t0006g0290 a0001c0022t0002g0275	39	345	0.1130	-23	c.350 others(40): Show c.350-4819_350-4797delTCCCATCTCCCCTCTCCCCTCTC	ALOX5	ENSG00000012779.12	transcript	ENST00000374391.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ALOXE3_chr17_8090900_8123514	8107942	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19004.hp2 NA19074.hp1 NA18747.hp1 NA19004.hp2 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0146 a0001c0002t0001g0211 a0001c0002t0001g0075 a0001c0002t0001g0146 a0001c0002t0001g0211	3	422	0.0071	-23	c.168 others(40): Show c.1684+503_1684+525delCTTCCTTTCTTTCTTTCTTTCTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107955	AAGAAAGG others(16): Show AAGAAAGGAAGGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 NA21309.hp2 HG01256.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0119 a0001c0002t0001g0254 a0001c0002t0001g0119 a0001c0002t0001g0254	2	422	0.0047	-23	c.168 others(40): Show c.1684+490_1684+512delCTCTCTCTCTCTCCTTCCTTTCT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALPL_chr1_21504423_21583410	21576248	ATGGATGA others(16): Show ATGGATGATGGATGGATGGATGGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02723.hp2 HG02258.hp1 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0177 a0002c0002t0004g0365 a0002c0002t0004g0177 a0002c0002t0004g0365	2	370	0.0054	-23	c.119 others(40): Show c.1190-267_1190-245delATGGATGGATGGATGGGTGGATG	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
AMBRA1_chr11_46391414_46599023	46552368	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	160	0.0063	-23	c.-12 others(42): Show c.-120-3891_-120-3869delTTTTTTTTTTTTTTTTTTTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46595535	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02818.hp1 HG03471.hp2 HG02572.hp1 HG02818.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0028 a0001c0001t0001g0127 a0001c0001t0003g0020 a0001c0001t0001g0028 a0001c0001t0001g0127 a0001c0001t0003g0020	3	160	0.0188	-23	c.-18 others(34): Show c.-1851_-1829delTTTTTTTTTTTTTTTTTTTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding		1513		chr11	TogoVar
AMIGO1_chr1_109499178_109514727	109511252	AAAAAAAG others(16): Show AAAAAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02698.hp2 HG03704.hp2 HG01109.hp1 HG02698.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	3	400	0.0075	-23	c.-19 others(34): Show c.-1943_-1921delCTTTCTTTCTTTCTTTCTTTTTT	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		1526		chr1	TogoVar
AMT_chr3_49411778_49427473	49427339	AGATGTAG others(16): Show AGATGTAGAAAACGTAGGCTGGGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	358	0.0028	-23	c.-49 others(34): Show c.-4912_-4890delACCCAGCCTACGTTTTCTACATC	AMT	ENSG00000145020.16	transcript	ENST00000273588.9	protein_coding		4867		chr3	TogoVar
ANAPC10_chr4_144989576_145103196	145026971	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	336	0.0030	-23	c.328 others(42): Show c.328-31391_328-31369delAAAAAAATATATATATATATATA	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC16_chr10_72211012_72240860	72218160	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01361.hp1 NA18969.hp1 HG01257.hp2 HG01361.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0180 a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0001g0180 a0001c0001t0005g0234 a0001c0001t0005g0235	3	352	0.0085	-23	c.-28 others(40): Show c.-28+2024_-28+2046delAAAAATATATATATATATATATA	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC16_chr10_72211012_72240860	72218166	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02895.hp2 HG03453.hp1 others(2): Show HG02723.hp2 HG02895.hp2 HG03453.hp1 HG03540.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0001t0002 a0001c0002t0004	a0001c0001t0002g0255 a0001c0002t0004g0301 a0001c0002t0004g0303 others(2): Show a0001c0001t0002g0255 a0001c0002t0004g0301 a0001c0002t0004g0303 a0001c0002t0004g0304 a0001c0002t0004g0326	5	352	0.0142	-23	c.-28 others(40): Show c.-28+2029_-28+2051delTATATATATATATATATATATAT	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3			chr10	TogoVar
ANAPC1_chr2_111762640_111889193	111885036	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0363 a0001c0007t0004g0363	1	370	0.0027	-23	c.-11 others(34): Show c.-1142_-1120delCACACACACACACACACACACAC	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		844		chr2	TogoVar
ANGPTL5_chr11_101885674_101921522	101911094	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG02602.hp2 others(3): Show HG00099.hp1 HG00323.hp2 HG02602.hp2 HG02698.hp1 HG02738.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0183 a0001c0001t0001g0249 a0001c0001t0002g0023 others(2): Show a0001c0001t0001g0183 a0001c0001t0001g0249 a0001c0001t0002g0023 a0001c0001t0002g0062 a0001c0001t0002g0063	6	422	0.0142	-23	c.-92 others(40): Show c.-92-3116_-92-3094delAAAAAAAAAAAAAAAAAAAAAAA	ANGPTL5	ENSG00000187151.7	transcript	ENST00000334289.7	protein_coding	1/8			chr11	TogoVar
ANK3_chr10_60021298_60394875	60051386	CACAACCA others(16): Show CACAACCACAAGGAAGGAGTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0180 a0001c0001t0007g0180	1	192	0.0052	-23	c.130 others(44): Show c.13065+4249_13065+4271delAGAAACTCCTTCCTTGTGGTTGT	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	42/43			chr10	TogoVar
ANK3_chr10_60021298_60394875	60226491	ATATACTA others(16): Show ATATACTATAGTATATATACATAG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0013 a0013	a0013c0092 a0013c0092	a0013c0092t0006 a0013c0092t0006	a0013c0092t0006g0004 a0013c0092t0006g0004	1	192	0.0052	-23	c.897 others(40): Show c.897+8174_897+8196delCTATGTATATATACTATAGTATA	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	8/43			chr10	TogoVar
ANKRD11_chr16_89262630_89495561	89290338	CGGGGGAG others(16): Show CGGGGGAGGCTCAGGGCTCCAATG	C C	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0289 a0002c0002t0002g0289	1	310	0.0032	-23	c.601 others(38): Show c.601+264_601+286delCATTGGAGCCCTGAGCCTCCCCC	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	6/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89290474	CGGGGGAG others(16): Show CGGGGGAGGCTCAGGGCTCCAATG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(122): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG02015.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp2 NA18522.hp2 NA18612.hp2 NA18947.hp2 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18966.hp1 NA18966.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18984.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp2 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19067.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19083.hp2 NA19086.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0007 a0008 a0012 a0013 a0015 a0028 a0029 a0031 a0032 a0033	a0001c0001 a0001c0007 a0001c0011 others(21): Show a0001c0001 a0001c0007 a0001c0011 a0001c0018 a0001c0022 a0001c0024 a0001c0051 a0001c0054 a0001c0055 a0002c0002 a0002c0009 a0003c0038 a0004c0004 a0007c0012 a0008c0059 a0012c0048 a0012c0057 a0013c0019 a0015c0026 a0028c0056 a0029c0049 a0031c0052 a0032c0050 a0033c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0007t0001 a0001c0011t0001 a0001c0018t0001 a0001c0022t0001 a0001c0024t0001 a0001c0051t0001 a0001c0054t0001 a0001c0055t0001 a0002c0002t0001 a0002c0002t0002 a0002c0009t0002 a0003c0038t0001 a0004c0004t0001 a0007c0012t0001 a0008c0059t0001 a0012c0048t0012 a0012c0057t0001 a0013c0019t0004 a0015c0026t0001 a0028c0056t0001 a0029c0049t0001 a0031c0052t0003 a0032c0050t0001 a0033c0027t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 others(122): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0002g0223 a0001c0001t0002g0292 a0001c0001t0006g0248 a0001c0001t0011g0057 a0001c0007t0001g0071 a0001c0007t0001g0092 a0001c0007t0001g0147 a0001c0007t0001g0148 a0001c0007t0001g0235 a0001c0011t0001g0193 a0001c0011t0001g0212 a0001c0011t0001g0232 a0001c0018t0001g0266 a0001c0018t0001g0278 a0001c0022t0001g0123 a0001c0022t0001g0263 a0001c0024t0001g0270 a0001c0051t0001g0012 a0001c0054t0001g0050 a0001c0055t0001g0097 a0002c0002t0001g0272 a0002c0002t0002g0046 a0002c0009t0002g0284 a0003c0038t0001g0201 a0004c0004t0001g0119 a0007c0012t0001g0128 a0007c0012t0001g0158 a0007c0012t0001g0161 a0008c0059t0001g0264 a0012c0048t0012g0066 a0012c0057t0001g0122 a0013c0019t0004g0083 a0013c0019t0004g0084 a0015c0026t0001g0239 a0028c0056t0001g0127 a0029c0049t0001g0265 a0031c0052t0003g0120 a0032c0050t0001g0067 a0033c0027t0001g0275	125	310	0.4032	-23	c.601 others(38): Show c.601+128_601+150delCATTGGAGCCCTGAGCCTCCCCC	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	6/12			chr16	TogoVar
ANKRD12_chr18_9131781_9290985	9259386	AACACATT others(16): Show AACACATTTATGTGTTTAACATAG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01884.hp1 HG02630.hp2 others(3): Show HG01069.hp2 HG01884.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG03139.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0005 a0002c0002 a0006c0005	a0002c0002t0008 a0006c0005t0015 a0006c0005t0040 a0002c0002t0008 a0006c0005t0015 a0006c0005t0040	a0002c0002t0008g0155 a0006c0005t0015g0006 a0006c0005t0015g0007 others(3): Show a0002c0002t0008g0155 a0006c0005t0015g0006 a0006c0005t0015g0007 a0006c0005t0015g0008 a0006c0005t0015g0009 a0006c0005t0040g0166	6	318	0.0189	-23	c.566 others(40): Show c.5664+496_5664+518delACATAGACACATTTATGTGTTTA	ANKRD12	ENSG00000101745.17	transcript	ENST00000262126.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
ANKRD17_chr4_73068376_73263798	73182051	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	292	0.0034	-23	c.394 others(40): Show c.394-4541_394-4519delTTTTTTTTTTTTTTTTTTTTTTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	1/33			chr4	TogoVar
ANKRD27_chr19_32592006_32680180	32656104	AAAGAAAA others(16): Show AAAGAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0290 a0001c0009t0003g0290	1	348	0.0029	-23	c.102 others(40): Show c.102+2787_102+2809delCTTTTCTTTTCTTTTCTTTTCTT	ANKRD27	ENSG00000105186.16	transcript	ENST00000306065.9	protein_coding	2/28			chr19	TogoVar
ANKRD31_chr5_75063297_75241878	75206243	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA19001.hp2 HG01943.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0280 a0001c0001t0002g0228 a0001c0001t0002g0280	2	334	0.0060	-23	c.403 others(38): Show c.403+145_403+167delATATATATATATATATATTTTTT	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25			chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75206245	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA19002.hp2 NA18959.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0277 a0001c0001t0002g0215 a0001c0001t0002g0277	2	334	0.0060	-23	c.403 others(38): Show c.403+143_403+165delATATATATATATATATATATTTT	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25			chr5	TogoVar
ANKS1A_chr6_34884255_35096406	34973947	TCCCTTCC others(16): Show TCCCTTCCCCTTCCCCTTGCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0001 a0001c0002t0021g0001	1	320	0.0031	-23	c.435 others(40): Show c.435+3799_435+3821delGCCTTCCCCTTCCCCTTCCCCTT	ANKS1A	ENSG00000064999.16	transcript	ENST00000360359.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
ANO10_chr3_43360848_43627011	43612161	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18522.hp1 HG02886.hp2 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0202 a0002c0002t0008g0203 a0002c0002t0008g0202 a0002c0002t0008g0203	2	224	0.0089	-23	c.-11 others(40): Show c.-11-6321_-11-6299delTATATATATATATATATATATAT	ANO10	ENSG00000160746.13	transcript	ENST00000292246.8	protein_coding	1/12			chr3	TogoVar
ANO2_chr12_5557655_5950259	5837190	CCCAGGAG others(16): Show CCCAGGAGTGCAGCATCCACGGGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00738.hp2 others(16): Show HG00140.hp2 HG00639.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01168.hp1 HG01358.hp2 HG01433.hp1 HG02055.hp2 HG02257.hp1 HG02602.hp1 HG02615.hp1 HG03209.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG04204.hp2 NA18944.hp2 NA19084.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0010	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0006 a0009c0026 a0010c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0002c0003t0001 a0002c0003t0002 a0002c0006t0001 a0009c0026t0001 a0010c0023t0001	a0001c0001t0001g0016 a0001c0001t0001g0088 a0001c0001t0001g0111 others(16): Show a0001c0001t0001g0016 a0001c0001t0001g0088 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0159 a0001c0001t0004g0100 a0001c0002t0001g0022 a0001c0002t0001g0080 a0001c0002t0001g0085 a0001c0002t0001g0089 a0001c0002t0001g0119 a0002c0003t0001g0120 a0002c0003t0002g0158 a0002c0006t0001g0099 a0009c0026t0001g0047 a0010c0023t0001g0122	19	162	0.1173	-23	c.634 others(40): Show c.634-4610_634-4588delCCCCGTGGATGCTGCACTCCTGG	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	4/24			chr12	TogoVar
ANO3_chr11_26327130_26668289	26530478	TATCTATC others(16): Show TATCTATCTATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01099.hp2 others(15): Show HG00735.hp1 HG00735.hp2 HG01099.hp2 HG01167.hp1 HG02486.hp2 HG02735.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03130.hp2 HG03239.hp2 HG03486.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0002t0007 a0001c0003t0002 others(5): Show a0001c0001t0001 a0001c0002t0007 a0001c0003t0002 a0001c0003t0008 a0001c0003t0021 a0001c0005t0005 a0001c0007t0001 a0001c0008t0009	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(15): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0146 a0001c0002t0007g0083 a0001c0003t0002g0003 a0001c0003t0002g0057 a0001c0003t0008g0159 a0001c0003t0021g0007 a0001c0005t0005g0004 a0001c0005t0005g0005 a0001c0005t0005g0006 a0001c0005t0005g0041 a0001c0007t0001g0011 a0001c0008t0009g0151 a0001c0008t0009g0171 a0001c0008t0009g0172	18	190	0.0947	-23	c.738 others(38): Show c.738-713_738-691delTCTATCTATCATCTATCTATCTA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO7_chr2_241183677_241230976	241218101	GGGGCAGC others(16): Show GGGGCAGCGGGGGCGCGCAGGGGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02132.hp1 HG00140.hp2 HG02132.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0006 a0007c0011t0001 a0001c0001t0006 a0007c0011t0001	a0001c0001t0006g0184 a0007c0011t0001g0228 a0001c0001t0006g0184 a0007c0011t0001g0228	2	396	0.0051	-23	c.217 others(40): Show c.2179-135_2179-113delGCAGCGGGGGCGCGCAGGGGCGG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANO8_chr19_17318223_17339855	17335831	CAACTAGC others(16): Show CAACTAGCTTGTTACAGATGTAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00741.hp2 HG01109.hp2 others(25): Show HG00140.hp1 HG00741.hp2 HG01109.hp2 HG01167.hp1 HG01192.hp1 HG01516.hp1 HG01978.hp1 HG02027.hp1 HG02165.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG03490.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 NA18940.hp1 NA18952.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp2 NA19062.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 others(1): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0008	a0001c0003t0001g0071 a0001c0003t0003g0006 a0001c0003t0003g0032 others(8): Show a0001c0003t0001g0071 a0001c0003t0003g0006 a0001c0003t0003g0032 a0001c0003t0003g0049 a0001c0003t0003g0067 a0001c0003t0003g0074 a0001c0003t0003g0144 a0001c0003t0005g0005 a0001c0003t0005g0031 a0001c0003t0005g0066 a0001c0003t0008g0070	28	364	0.0769	-23	c.-11 others(34): Show c.-1184_-1162delATTACATCTGTAACAAGCTAGTT	ANO8	ENSG00000074855.11	transcript	ENST00000159087.7	protein_coding		977		chr19	TogoVar
ANPEP_chr15_89779895_89819852	89797334	CCTCACTC others(16): Show CCTCACTCACCTCCTCAGTGCCTG	C C	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	404	0.0025	-23	c.215 others(40): Show c.2157+218_2157+240delCAGGCACTGAGGAGGTGAGTGAG	ANPEP	ENSG00000166825.15	transcript	ENST00000300060.7	protein_coding	15/20			chr15	TogoVar
ANPEP_chr15_89779895_89819852	89812148	TGTGGCCG others(16): Show TGTGGCCGGGAGAGCTGAGCACCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG02145.hp1 others(3): Show HG01109.hp1 HG01243.hp2 HG02145.hp1 HG02622.hp1 HG03041.hp2 HG03516.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0010 a0002c0001 a0003c0007 others(1): Show a0001c0010 a0002c0001 a0003c0007 a0007c0019	a0001c0010t0001 a0002c0001t0004 a0003c0007t0002 others(1): Show a0001c0010t0001 a0002c0001t0004 a0003c0007t0002 a0007c0019t0003	a0001c0010t0001g0006 a0002c0001t0004g0222 a0003c0007t0002g0223 others(1): Show a0001c0010t0001g0006 a0002c0001t0004g0222 a0003c0007t0002g0223 a0007c0019t0003g0313	6	404	0.0149	-23	c.-22 others(42): Show c.-224+2601_-224+2623delGGGTGCTCAGCTCTCCCGGCCAC	ANPEP	ENSG00000166825.15	transcript	ENST00000300060.7	protein_coding	1/20			chr15	TogoVar

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