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
ACOX1_chr17_75936507_75984166	75956967	CTCTCTAT others(15): Show CTCTCTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18970.hp2 NA18975.hp1 others(3): Show HG01261.hp2 NA18970.hp2 NA18975.hp1 NA19010.hp2 NA19067.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0027 others(2): Show a0002c0002t0001 a0002c0002t0006 a0002c0002t0027 a0002c0002t0062 a0002c0002t0066	a0002c0002t0001g0240 a0002c0002t0001g0293 a0002c0002t0006g0201 others(3): Show a0002c0002t0001g0240 a0002c0002t0001g0293 a0002c0002t0006g0201 a0002c0002t0027g0208 a0002c0002t0062g0219 a0002c0002t0066g0223	6	344	0.0174	-22	c.538 others(37): Show c.538+470_538+491delTATATATATATATATATAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956969	CTCTATAT others(15): Show CTCTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0258 a0002c0002t0001g0258	1	344	0.0029	-22	c.538 others(37): Show c.538+468_538+489delTATATATATATATATATATAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX2_chr3_58500136_58542190	58510691	TATATATA others(15): Show TATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0099 a0001c0004t0001g0099	1	364	0.0028	-22	c.185 others(41): Show c.1851-1688_1851-1667delGTGTATATATATATATATATAT	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	13/14			chr3	TogoVar
ACOX2_chr3_58500136_58542190	58510693	TATATATA others(15): Show TATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01109.hp1 HG01258.hp1 others(13): Show HG00609.hp1 HG01109.hp1 HG01258.hp1 HG01891.hp2 HG01943.hp2 HG02602.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG03239.hp2 HG04184.hp1 HG04228.hp2 NA18941.hp2 NA18944.hp2 NA19010.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 a0001c0006t0001 a0001c0006t0002	a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0143 others(9): Show a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0201 a0001c0001t0001g0211 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0002t0001g0066 a0001c0004t0002g0051 a0001c0006t0001g0062 a0001c0006t0002g0304	16	364	0.0440	-22	c.185 others(41): Show c.1851-1690_1851-1669delGTGTGTATATATATATATATAT	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	13/14			chr3	TogoVar
ACOX2_chr3_58500136_58542190	58510695	TATATATA others(15): Show TATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01074.hp1 HG01081.hp2 others(23): Show HG00597.hp2 HG01074.hp1 HG01081.hp2 HG01358.hp2 HG01884.hp2 HG01952.hp2 HG01981.hp2 HG02071.hp1 HG02273.hp1 HG02293.hp1 HG03710.hp2 NA18952.hp1 NA18964.hp1 NA18972.hp2 NA18977.hp1 NA18979.hp1 NA18998.hp2 NA19011.hp2 NA19054.hp1 NA19055.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19084.hp1 NA19087.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0039 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0039 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0002t0001g0067	26	364	0.0714	-22	c.185 others(41): Show c.1851-1692_1851-1671delGTGTGTGTATATATATATATAT	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	13/14			chr3	TogoVar
ACOX2_chr3_58500136_58542190	58510701	TATATATA others(15): Show TATATATATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18957.hp2 NA18972.hp1 others(4): Show HG02071.hp2 NA18957.hp2 NA18972.hp1 NA19000.hp1 NA19057.hp1 NA19063.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0022 a0001c0001t0001g0164 a0001c0001t0001g0243 others(3): Show a0001c0001t0001g0022 a0001c0001t0001g0164 a0001c0001t0001g0243 a0001c0002t0001g0065 a0001c0002t0001g0089 a0001c0002t0001g0260	7	364	0.0192	-22	c.185 others(41): Show c.1851-1698_1851-1677delGTGTGTGTGTGTGTATATATAT	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	13/14			chr3	TogoVar
ACOX2_chr3_58500136_58542190	58510703	TATATATA others(15): Show TATATATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02886.hp1 HG03516.hp1 others(1): Show HG02615.hp2 HG02886.hp1 HG03516.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0077 a0001c0002t0001g0082 a0001c0002t0001g0256 others(1): Show a0001c0002t0001g0077 a0001c0002t0001g0082 a0001c0002t0001g0256 a0001c0002t0004g0035	4	364	0.0110	-22	c.185 others(41): Show c.1851-1700_1851-1679delGTGTGTGTGTGTGTGTATATAT	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	13/14			chr3	TogoVar
ACOXL_chr2_110727573_111123548	110767923	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00673.hp1 others(3): Show HG00423.hp1 HG00438.hp1 HG00673.hp1 HG01981.hp1 NA18612.hp2 NA19011.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0004 a0005c0007 a0002c0002 a0003c0004 a0005c0007	a0002c0002t0003 a0002c0002t0004 a0003c0004t0003 others(2): Show a0002c0002t0003 a0002c0002t0004 a0003c0004t0003 a0003c0004t0004 a0005c0007t0004	a0002c0002t0003g0139 a0002c0002t0003g0142 a0002c0002t0004g0141 others(3): Show a0002c0002t0003g0139 a0002c0002t0003g0142 a0002c0002t0004g0141 a0003c0004t0003g0143 a0003c0004t0004g0140 a0005c0007t0004g0144	6	150	0.0400	-22	c.-22 others(37): Show c.-22-409_-22-388delCACACACACACACACACACACA	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACSBG1_chr15_78162468_78239565	78238996	CCCAAGAT others(15): Show CCCAAGATGGTGGCGGGCCGCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0149 a0003c0004t0003g0149	1	350	0.0029	-22	c.-45 others(33): Show c.-4517_-4496delAAGCGGCCCGCCACCATCTTGG	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding		4432		chr15	TogoVar
ACSF3_chr16_89088852_89161233	89147038	AGGAAGCG others(15): Show AGGAAGCGTGGCTGGGGAGGCCT	A A	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0095 a0002c0003t0004g0095	1	368	0.0027	-22	c.161 others(40): Show c.1613+990_1613+1011delGGAAGCGTGGCTGGGGAGGCCT	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	10/10			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20627869	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp2 HG00738.hp1 others(19): Show HG00099.hp1 HG00609.hp2 HG00738.hp1 HG01081.hp1 HG02015.hp1 HG02132.hp1 HG02717.hp2 HG02735.hp2 HG03486.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG04228.hp2 NA18977.hp1 NA18982.hp2 NA18987.hp1 NA19007.hp2 NA19055.hp1 NA19065.hp1 NA19240.hp1 NA20129.hp1 NA20905.hp1	a0001 a0010 a0001 a0010	a0001c0002 a0001c0003 a0001c0016 others(1): Show a0001c0002 a0001c0003 a0001c0016 a0010c0017	a0001c0002t0001 a0001c0003t0001 a0001c0016t0001 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0016t0001 a0010c0017t0001	a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0016 others(19): Show a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0016 a0001c0002t0001g0036 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0002t0001g0087 a0001c0002t0001g0091 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0214 a0001c0002t0001g0217 a0001c0002t0001g0222 a0001c0002t0001g0233 a0001c0002t0001g0243 a0001c0003t0001g0103 a0001c0016t0001g0070 a0010c0017t0001g0071	22	318	0.0692	-22	c.130 others(39): Show c.1300-575_1300-554delATATATATATATATATATATAT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	10/13			chr16	TogoVar
ACSM1_chr16_20618235_20702680	20685825	AAAAAAAC others(15): Show AAAAAAACAAACAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	318	0.0031	-22	c.193 others(37): Show c.193-444_193-423delGTTTTTTTTTTGTTTGTTTTTT	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	2/13			chr16	TogoVar
ACSS3_chr12_81073079_81266210	81107511	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02486.hp1 others(4): Show HG02109.hp2 HG02257.hp2 HG02486.hp1 HG02809.hp2 HG03130.hp2 HG03225.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0028 a0002c0003t0005 a0001c0001t0028 a0002c0003t0005	a0001c0001t0028g0038 a0002c0003t0005g0152 a0002c0003t0005g0153 others(4): Show a0001c0001t0028g0038 a0002c0003t0005g0152 a0002c0003t0005g0153 a0002c0003t0005g0154 a0002c0003t0005g0155 a0002c0003t0005g0156 a0002c0003t0005g0157	7	290	0.0241	-22	c.312 others(39): Show c.312-2021_312-2000delTATATATATATATATATATATA	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTA1_chr1_229426245_229439094	229435461	CCTCTCTC others(15): Show CCTCTCTCTCTCTCTCTCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00438.hp2 others(51): Show HG00099.hp2 HG00140.hp2 HG00438.hp2 HG00639.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01168.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01975.hp2 HG02004.hp1 HG02015.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG03139.hp1 HG03225.hp2 HG03491.hp1 HG03669.hp2 HG03942.hp1 NA18522.hp1 NA18945.hp2 NA18954.hp1 NA18967.hp1 NA18968.hp1 NA18977.hp2 NA18980.hp2 NA18984.hp1 NA18998.hp1 NA19054.hp1 NA19060.hp2 NA19079.hp2 NA19082.hp1 NA19085.hp1 NA19087.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024	54	450	0.1200	-22	c.-14 others(33): Show c.-1492_-1471delAGAGAGAGAGAGAGAGAGAGAG	ACTA1	ENSG00000143632.15	transcript	ENST00000366684.7	protein_coding		1368		chr1	TogoVar
ACTB_chr7_5522148_5535601	5530469	GGCCGCCT others(15): Show GGCCGCCTGCGGCCGGGCCGTGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp2 others(115): Show HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02083.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18945.hp2 NA18953.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18973.hp1 NA18978.hp2 NA18990.hp2 NA18995.hp1 NA19002.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19055.hp1 NA19057.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19083.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0004t0001 a0001c0004t0002 a0001c0006t0002	a0001c0001t0001g0010 a0001c0001t0001g0072 a0001c0001t0001g0076 others(28): Show a0001c0001t0001g0010 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0023 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0003g0007 a0001c0001t0003g0013 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0037 a0001c0001t0003g0073 a0001c0001t0003g0079 a0001c0001t0004g0034 a0001c0001t0005g0077 a0001c0001t0006g0024 a0001c0001t0006g0033 a0001c0001t0010g0035 a0001c0001t0010g0036 a0001c0001t0014g0032 a0001c0001t0017g0031 a0001c0001t0019g0028 a0001c0004t0001g0030 a0001c0004t0002g0029 a0001c0006t0002g0074	118	370	0.3189	-22	c.-7+ others(33): Show c.-7+33_-7+54delTCACGGCCCGGCCGCAGGCGGC	ACTB	ENSG00000075624.17	transcript	ENST00000646664.1	protein_coding	1/5			chr7	TogoVar
ACTG2_chr2_73888008_73924865	73901532	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0396 a0001c0003t0001g0396	1	416	0.0024	-22	c.126 others(37): Show c.126+123_126+144delGTGTGTGTGTGTGTGTGTGTGT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73902019	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02970.hp2 HG03130.hp2 others(2): Show HG02451.hp1 HG02970.hp2 HG03130.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0002t0003	a0001c0001t0003g0229 a0001c0001t0005g0028 a0001c0001t0007g0032 others(2): Show a0001c0001t0003g0229 a0001c0001t0005g0028 a0001c0001t0007g0032 a0001c0002t0003g0039 a0001c0002t0003g0348	5	416	0.0120	-22	c.127 others(37): Show c.127-311_127-290delGTGTGTGTGTGTGTCTGTGTGT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73904765	GTGTGTGT others(15): Show GTGTGTGTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01168.hp2 NA18941.hp1 others(11): Show HG00438.hp2 HG01168.hp2 NA18941.hp1 NA18943.hp1 NA18950.hp1 NA18955.hp1 NA18975.hp1 NA18999.hp1 NA19004.hp2 NA19012.hp1 NA19057.hp2 NA19068.hp2 NA19082.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0009 a0001c0001t0001g0183 a0001c0001t0001g0186 others(10): Show a0001c0001t0001g0009 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0197 a0001c0001t0001g0206 a0001c0001t0001g0318 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0003g0187 a0001c0001t0003g0337	14	416	0.0337	-22	c.255 others(39): Show c.255+2279_255+2300delGTGTGTGTGTGTATATATATAT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73904767	GTGTGTGT others(15): Show GTGTGTGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp2 HG01258.hp1 others(3): Show HG01257.hp1 HG01257.hp2 HG01258.hp1 HG02148.hp1 HG03540.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0008 a0001c0001t0001g0090 a0001c0001t0001g0292 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0090 a0001c0001t0001g0292 a0001c0001t0003g0368 a0001c0002t0002g0030	6	416	0.0144	-22	c.255 others(39): Show c.255+2281_255+2302delGTGTGTGTGTATATATATATAT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73904769	GTGTGTGT others(15): Show GTGTGTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02895.hp1 HG02897.hp2 others(2): Show HG02055.hp2 HG02895.hp1 HG02897.hp2 HG03225.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0003t0004 a0001c0002t0002 a0001c0003t0001 a0001c0003t0004	a0001c0002t0002g0005 a0001c0002t0002g0029 a0001c0003t0001g0396 others(1): Show a0001c0002t0002g0005 a0001c0002t0002g0029 a0001c0003t0001g0396 a0001c0003t0004g0065	5	416	0.0120	-22	c.255 others(39): Show c.255+2283_255+2304delGTGTGTGTATATATATATATAT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73904773	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03486.hp2 NA18522.hp1 others(1): Show HG02280.hp2 HG03486.hp2 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0222 a0001c0001t0004g0003 a0001c0001t0004g0023 a0001c0001t0002g0222 a0001c0001t0004g0003 a0001c0001t0004g0023	4	416	0.0096	-22	c.255 others(39): Show c.255+2287_255+2308delGTGTATATATATATATATATAT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTG2_chr2_73888008_73924865	73904777	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0181 a0001c0002t0001g0181	1	416	0.0024	-22	c.255 others(39): Show c.255+2306_255+2327delTATATATATATATATATATATA	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTL8_chr1_17750333_17832063	17776969	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0179 a0002c0004t0001g0179	1	366	0.0027	-22	c.-25 others(41): Show c.-25+21480_-25+21501delTTTTTTTTTTTTTTTTTTTTTT	ACTL8	ENSG00000117148.8	transcript	ENST00000375406.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTMAP_chr19_40735861_40755477	40755263	TTTTTTTT others(15): Show TTTTTTTTTTTTTTTTTTTGGCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	426	0.0024	-22	c.-54 others(33): Show c.-5482_-5461delTGCCAAAAAAAAAAAAAAAAAA	ACTMAP	ENSG00000188493.15	transcript	ENST00000378313.7	protein_coding		4787		chr19	TogoVar
ACTN2_chr1_236681499_236769631	236689300	GATATATA others(15): Show GATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00741.hp1 HG01106.hp2 others(30): Show HG00609.hp1 HG00741.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG02015.hp2 HG02083.hp1 HG02486.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG03130.hp2 HG03579.hp2 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18963.hp1 NA18967.hp2 NA18969.hp2 NA18984.hp1 NA18986.hp2 NA18998.hp1 NA19000.hp2 NA19011.hp2 NA19063.hp2 NA19082.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19091.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0010 a0002c0008 a0005c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0002t0002 a0001c0002t0013 a0001c0004t0005 a0001c0006t0002 a0001c0010t0002 a0002c0008t0004 a0005c0033t0003	a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 others(30): Show a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0002g0156 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0143 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0005g0151 a0001c0001t0009g0091 a0001c0001t0009g0152 a0001c0002t0002g0162 a0001c0002t0002g0165 a0001c0002t0013g0161 a0001c0004t0005g0163 a0001c0006t0002g0150 a0001c0010t0002g0160 a0001c0010t0002g0164 a0002c0008t0004g0168 a0005c0033t0003g0169	33	344	0.0959	-22	c.126 others(39): Show c.126+2519_126+2540delTATATATATATATATATATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236689318	TATATATA others(15): Show TATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0120 a0001c0004t0005g0120	1	344	0.0029	-22	c.126 others(39): Show c.126+2521_126+2542delTATATATATATATATATATACA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN4_chr19_38642649_38736589	38673456	CATATATA others(15): Show CATATATATTTATATATATTTAT	C C	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	314	0.0032	-22	c.162 others(41): Show c.162+25559_162+25580delTATATATATTTATATATATATT	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38691869	CTCCAACC others(15): Show CTCCAACCTGGCGACACAGCGAG	C C	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	314	0.0032	-22	c.163 others(39): Show c.163-8730_163-8709delTCCAACCTGGCGACACAGCGAG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20			chr19	TogoVar
ACTN4_chr19_38642649_38736589	38712949	CTGGCCCC others(15): Show CTGGCCCCTCTCTGAGGGGGTAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG00738.hp1 others(21): Show HG00280.hp2 HG00733.hp1 HG00738.hp1 HG01099.hp1 HG01123.hp2 HG01515.hp2 HG01517.hp2 HG01975.hp1 HG02004.hp2 HG02135.hp2 HG02293.hp1 HG03017.hp1 HG03041.hp1 HG03491.hp2 HG03710.hp1 HG04115.hp1 HG04199.hp2 NA18522.hp2 NA18939.hp2 NA18966.hp2 NA18981.hp1 NA19010.hp1 NA19030.hp2 NA20905.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0005 a0001c0004t0013 a0001c0004t0048 others(3): Show a0001c0004t0005 a0001c0004t0013 a0001c0004t0048 a0001c0006t0005 a0001c0006t0046 a0001c0006t0047	a0001c0004t0005g0095 a0001c0004t0005g0222 a0001c0004t0005g0224 others(21): Show a0001c0004t0005g0095 a0001c0004t0005g0222 a0001c0004t0005g0224 a0001c0004t0005g0225 a0001c0004t0005g0227 a0001c0004t0005g0229 a0001c0004t0005g0230 a0001c0004t0005g0231 a0001c0004t0005g0232 a0001c0004t0005g0233 a0001c0004t0005g0240 a0001c0004t0005g0242 a0001c0004t0005g0243 a0001c0004t0005g0244 a0001c0004t0005g0245 a0001c0004t0005g0246 a0001c0004t0013g0228 a0001c0004t0013g0235 a0001c0004t0013g0236 a0001c0004t0013g0241 a0001c0004t0048g0223 a0001c0006t0005g0237 a0001c0006t0046g0238 a0001c0006t0047g0239	24	314	0.0764	-22	c.820 others(39): Show c.820-1516_820-1495delCCCCTCTCTGAGGGGGTAGTGG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38736454	ACCCCCAG others(15): Show ACCCCCAGGGCAGTTTGACCAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0261 a0001c0001t0004g0261	1	314	0.0032	-22	c.70 others(33): Show c.7023_*7044delCCCCCAGGGCAGTTTGACCAAG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4866		chr19	TogoVar
ACTR1B_chr2_97650939_97669044	97665725	CTCTCTCT others(15): Show CTCTCTCTCTCTCTATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0032 a0001c0001t0013g0032	1	398	0.0025	-22	c.-18 others(33): Show c.-1857_-1836delTATATATATAGAGAGAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1682		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665727	CTCTCTCT others(15): Show CTCTCTCTCTCTATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0055 a0001c0002t0005g0055	1	398	0.0025	-22	c.-18 others(33): Show c.-1859_-1838delTATATATATATAGAGAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1684		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665731	CTCTCTCT others(15): Show CTCTCTCTATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0006 a0001c0002t0005g0006	1	398	0.0025	-22	c.-18 others(33): Show c.-1863_-1842delTATATATATATATATAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1688		chr2	TogoVar
ACTR3B_chr7_152754752_152860378	152778943	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02145.hp1 HG02622.hp1 others(1): Show HG01952.hp1 HG02145.hp1 HG02622.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 others(1): Show a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0304	4	310	0.0129	-22	c.45- others(37): Show c.45-4223_45-4202delAAAAAAAAAAAAAAAAAAAAAA	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACVR1B_chr12_51946699_52002078	51993765	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18522.hp1 HG01081.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0029 a0001c0001t0010 a0001c0001t0029	a0001c0001t0010g0069 a0001c0001t0029g0271 a0001c0001t0010g0069 a0001c0001t0029g0271	2	324	0.0062	-22	c.139 others(39): Show c.1393-202_1393-181delAAAAAAAAAAAAAAAAAAAAAA	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR1B_chr12_51946699_52002078	51993784	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0120 a0001c0001t0004g0120	1	324	0.0031	-22	c.139 others(39): Show c.1393-198_1393-177delAAAAAAAAAAAAAAAAAAGGAA	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR2A_chr2_147840029_147935822	147881621	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18948.hp2 NA18974.hp2 others(1): Show HG02109.hp1 NA18948.hp2 NA18974.hp2 NA19075.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0001 a0001c0002t0014 a0002c0006t0011 a0001c0002t0001 a0001c0002t0014 a0002c0006t0011	a0001c0002t0001g0062 a0001c0002t0001g0111 a0001c0002t0014g0178 others(1): Show a0001c0002t0001g0062 a0001c0002t0001g0111 a0001c0002t0014g0178 a0002c0006t0011g0086	4	338	0.0118	-22	c.56- others(39): Show c.56-14661_56-14640delTGTATGTGTGTGTGTGTGTGTG	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACVR2B_chr3_38448890_38498142	38492731	TACACACA others(15): Show TACACACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01981.hp2 HG02622.hp1 HG03139.hp2 HG01981.hp2 HG02622.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0126 a0001c0001t0193 a0001c0001t0214 a0001c0001t0126 a0001c0001t0193 a0001c0001t0214	a0001c0001t0126g0009 a0001c0001t0193g0021 a0001c0001t0214g0020 a0001c0001t0126g0009 a0001c0001t0193g0021 a0001c0001t0214g0020	3	410	0.0073	-22	c.94 others(33): Show c.9451_*9472delCACACACACACACACACACACA	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	11/11	9451	INFO_REALIGN_3_PRIME	chr3	TogoVar
ACVR2B_chr3_38448890_38498142	38492783	CACACACA others(15): Show CACACACACACACACACACACAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 NA18955.hp1 NA18966.hp2 others(2): Show HG00140.hp1 NA18955.hp1 NA18966.hp2 NA18980.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0119 a0001c0001t0145 a0001c0001t0022 a0001c0001t0119 a0001c0001t0145	a0001c0001t0022g0012 a0001c0001t0119g0072 a0001c0001t0145g0094 a0001c0001t0022g0012 a0001c0001t0119g0072 a0001c0001t0145g0094	5	410	0.0122	-22	c.94 others(33): Show c.9456_*9477delACACACACACACACACATACAC	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	11/11	9456	INFO_REALIGN_3_PRIME	chr3	TogoVar
ACYP2_chr2_53966113_54310300	54038673	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG02155.hp1 HG00280.hp2 HG00323.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0025 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0025	3	272	0.0110	-22	c.63- others(39): Show c.63-12266_63-12245delTATATATATATATATATATATA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201614	TTCTTTCT others(15): Show TTCTTTCTTTGTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02965.hp2 HG02818.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0268 a0001c0002t0002g0060 a0001c0001t0001g0268 a0001c0002t0002g0060	2	272	0.0074	-22	c.404 others(41): Show c.404+62876_404+62897delGTTTCTTTCTTTCTCTTTCTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54202706	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	272	0.0037	-22	c.404 others(41): Show c.404+63978_404+63999delTTTTTTTTTTTTTTTTTTTTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54256264	TTCAGTCT others(15): Show TTCAGTCTCGCGACACCCACCCC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0061	1	272	0.0037	-22	c.405 others(41): Show c.405-48408_405-48387delCCACCCCTCAGTCTCGCGACAC	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADA2_chr22_17173790_17224435	17222472	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(19): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00639.hp2 HG01074.hp2 HG01099.hp1 HG01167.hp1 HG01175.hp2 HG01256.hp2 HG01261.hp2 HG01516.hp2 HG01884.hp2 HG02055.hp1 HG02486.hp1 HG02602.hp1 HG02602.hp2 HG03098.hp1 HG03831.hp2 HG04184.hp2 HG04228.hp2 NA20805.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0002c0002 a0002c0006 a0002c0011 a0005c0016	a0001c0001t0004 a0001c0001t0048 a0001c0003t0004 others(13): Show a0001c0001t0004 a0001c0001t0048 a0001c0003t0004 a0001c0003t0008 a0001c0005t0006 a0001c0008t0006 a0001c0008t0042 a0001c0008t0047 a0002c0002t0008 a0002c0002t0009 a0002c0002t0051 a0002c0006t0004 a0002c0006t0008 a0002c0006t0046 a0002c0011t0006 a0005c0016t0045	a0001c0001t0004g0373 a0001c0001t0048g0358 a0001c0003t0004g0339 others(19): Show a0001c0001t0004g0373 a0001c0001t0048g0358 a0001c0003t0004g0339 a0001c0003t0004g0340 a0001c0003t0004g0359 a0001c0003t0004g0360 a0001c0003t0004g0367 a0001c0003t0004g0368 a0001c0003t0008g0365 a0001c0005t0006g0374 a0001c0008t0006g0349 a0001c0008t0006g0357 a0001c0008t0042g0344 a0001c0008t0047g0351 a0002c0002t0008g0356 a0002c0002t0009g0027 a0002c0002t0051g0333 a0002c0006t0004g0371 a0002c0006t0008g0364 a0002c0006t0046g0370 a0002c0011t0006g0343 a0005c0016t0045g0341	22	408	0.0539	-22	c.-31 others(33): Show c.-3185_-3164delTATATATATATATATATACACA	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding		3038		chr22	TogoVar
ADAD1_chr4_122374011_122434784	122378285	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01884.hp2 HG02055.hp2 others(10): Show HG01515.hp2 HG01884.hp2 HG02055.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03579.hp1 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0205 a0001c0001t0001g0294 a0001c0002t0001g0003 others(9): Show a0001c0001t0001g0205 a0001c0001t0001g0294 a0001c0002t0001g0003 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067	13	376	0.0346	-22	c.-91 others(31): Show c.-912_-891delAAAAAAAAAAAAAAAAAAAAAA	ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding		725		chr4	TogoVar
ADAM10_chr15_58583809_58754707	58593149	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18612.hp2 NA18966.hp1 NA18612.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0026 a0001c0001t0042g0036 a0001c0001t0042g0026 a0001c0001t0042g0036	2	342	0.0059	-22	c.43 others(33): Show c.4376_*4397delAAAAAAAAAAAAAAAAAAAAAA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	16/16	4376		chr15	TogoVar
ADAM10_chr15_58583809_58754707	58685545	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19060.hp1 NA19089.hp2 NA18950.hp1 NA19060.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0044 a0001c0001t0001 a0001c0001t0044	a0001c0001t0001g0078 a0001c0001t0001g0340 a0001c0001t0044g0067 a0001c0001t0001g0078 a0001c0001t0001g0340 a0001c0001t0044g0067	3	342	0.0088	-22	c.207 others(39): Show c.207-3253_207-3232delATATATATATATATATATATAT	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM12_chr10_126007391_126393477	126086666	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19084.hp1 HG02922.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0001c0004 a0002c0006	a0001c0004t0023 a0002c0006t0004 a0001c0004t0023 a0002c0006t0004	a0001c0004t0023g0014 a0002c0006t0004g0082 a0001c0004t0023g0014 a0002c0006t0004g0082	2	252	0.0079	-22	c.114 others(41): Show c.1145+7297_1145+7318delATATATATTTTTTTTTTTTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086668	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02486.hp1 HG02559.hp1 others(1): Show HG01192.hp1 HG02486.hp1 HG02559.hp1 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0037 a0001c0002 a0001c0003 a0001c0037	a0001c0002t0006 a0001c0003t0003 a0001c0003t0013 others(1): Show a0001c0002t0006 a0001c0003t0003 a0001c0003t0013 a0001c0037t0011	a0001c0002t0006g0016 a0001c0003t0003g0133 a0001c0003t0013g0183 others(1): Show a0001c0002t0006g0016 a0001c0003t0003g0133 a0001c0003t0013g0183 a0001c0037t0011g0043	4	252	0.0159	-22	c.114 others(41): Show c.1145+7295_1145+7316delATATATATATTTTTTTTTTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126113685	AAAATATA others(15): Show AAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0011 a0002c0006t0011	a0002c0006t0011g0086 a0002c0006t0011g0086	1	252	0.0040	-22	c.604 others(39): Show c.604-3867_604-3846delATATATATATATATATATATTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	6/22			chr10	TogoVar

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