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
AGMO_chr7_15195317_15567015	15493361	A A	ACACACAC others(8): Show ACACACACACACACTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19030.hp1 HG02630.hp2 NA19030.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0015c0020 a0001c0001 a0015c0020	a0001c0001t0001 a0015c0020t0002 a0001c0001t0001 a0015c0020t0002	a0001c0001t0001g0205 a0015c0020t0002g0202 a0001c0001t0001g0205 a0015c0020t0002g0202	2	236	0.0085	15	c.409 others(34): Show c.409+51410_409+51411insAAGTGTGTGTGTGTG	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15493362	C C	CACACACA others(8): Show CACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0003 a0006c0012t0003	a0006c0012t0003g0223 a0006c0012t0003g0223	1	236	0.0042	15	c.409 others(34): Show c.409+51409_409+51410insTGTGTGTGTGTGTGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGO3_chr1_35926105_36077500	35953657	C C	CAGAGAAT others(8): Show CAGAGAATACAGGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(125): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18954.hp1 NA18955.hp1 NA18964.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18980.hp2 NA18982.hp1 NA18989.hp2 NA18990.hp2 NA19000.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19085.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(45): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0034 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0054 a0001c0001t0056 a0001c0001t0064 a0001c0001t0068 a0001c0001t0069 a0001c0001t0073 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0085 a0001c0004t0011 a0001c0004t0036 a0001c0005t0030 a0001c0006t0029	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 others(125): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0058 a0001c0001t0002g0180 a0001c0001t0002g0188 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0210 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0194 a0001c0001t0004g0220 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0244 a0001c0001t0004g0257 a0001c0001t0005g0014 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0006g0181 a0001c0001t0006g0183 a0001c0001t0006g0184 a0001c0001t0006g0198 a0001c0001t0006g0205 a0001c0001t0006g0218 a0001c0001t0006g0222 a0001c0001t0006g0224 a0001c0001t0007g0185 a0001c0001t0007g0187 a0001c0001t0007g0196 a0001c0001t0007g0203 a0001c0001t0007g0208 a0001c0001t0007g0209 a0001c0001t0007g0240 a0001c0001t0010g0025 a0001c0001t0010g0027 a0001c0001t0010g0030 a0001c0001t0011g0032 a0001c0001t0011g0044 a0001c0001t0011g0047 a0001c0001t0011g0048 a0001c0001t0012g0031 a0001c0001t0012g0053 a0001c0001t0012g0054 a0001c0001t0012g0059 a0001c0001t0012g0060 a0001c0001t0014g0039 a0001c0001t0014g0056 a0001c0001t0014g0057 a0001c0001t0014g0243 a0001c0001t0015g0034 a0001c0001t0015g0046 a0001c0001t0015g0050 a0001c0001t0015g0051 a0001c0001t0018g0037 a0001c0001t0018g0038 a0001c0001t0018g0055 a0001c0001t0019g0192 a0001c0001t0019g0193 a0001c0001t0019g0204 a0001c0001t0021g0182 a0001c0001t0021g0219 a0001c0001t0022g0179 a0001c0001t0022g0207 a0001c0001t0025g0015 a0001c0001t0025g0023 a0001c0001t0026g0045 a0001c0001t0026g0049 a0001c0001t0027g0028 a0001c0001t0027g0036 a0001c0001t0034g0043 a0001c0001t0037g0231 a0001c0001t0038g0212 a0001c0001t0039g0213 a0001c0001t0040g0189 a0001c0001t0041g0230 a0001c0001t0042g0227 a0001c0001t0043g0215 a0001c0001t0045g0221 a0001c0001t0046g0206 a0001c0001t0047g0186 a0001c0001t0048g0178 a0001c0001t0054g0256 a0001c0001t0056g0024 a0001c0001t0064g0062 a0001c0001t0068g0040 a0001c0001t0069g0033 a0001c0001t0073g0211 a0001c0001t0076g0245 a0001c0001t0077g0241 a0001c0001t0078g0255 a0001c0001t0079g0061 a0001c0001t0080g0035 a0001c0001t0081g0254 a0001c0001t0082g0214 a0001c0001t0084g0252 a0001c0001t0085g0251 a0001c0004t0011g0052 a0001c0004t0036g0026 a0001c0005t0030g0011 a0001c0006t0029g0013	128	258	0.4961	15	c.191 others(32): Show c.191+7795_191+7796insGAGAATACAGGTGTA	AGO3	ENSG00000126070.20	transcript	ENST00000373191.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGO3_chr1_35926105_36077500	35995209	A A	AAAAATAT others(8): Show AAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0038 a0001c0001t0018g0038	1	258	0.0039	15	c.659 others(32): Show c.659-9131_659-9130insAAATATATATATATA	AGO3	ENSG00000126070.20	transcript	ENST00000373191.9	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGO3_chr1_35926105_36077500	36003694	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	258	0.0039	15	c.659 others(30): Show c.659-645_659-631dupAAAAAAAAAAAAAAA	AGO3	ENSG00000126070.20	transcript	ENST00000373191.9	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGO3_chr1_35926105_36077500	36003709	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0114	1	258	0.0039	15	c.659 others(30): Show c.659-631_659-630insAAAAATATATATATA	AGO3	ENSG00000126070.20	transcript	ENST00000373191.9	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGPAT2_chr9_136668143_136692457	136672492	C C	CCCCTGGC others(8): Show CCCCTGGCTACCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	374	0.0027	15	c.12 others(26): Show c.1245_*1259dupTGGGGGTAGCCAGGG	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding		650		chr9	TogoVar
AGPAT4_chr6_161124967_161279061	161124979	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0193 a0001c0001t0018g0193	1	264	0.0038	15	c.11 others(28): Show c.11560_*11561insAAAAAAAAAAAAAAA	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding		4987		chr6	TogoVar
AGPAT4_chr6_161124967_161279061	161183638	T T	TGAGGGGA others(8): Show TGAGGGGAGGAGAGGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp2 HG02735.hp1 others(7): Show HG02145.hp1 HG02559.hp2 HG02735.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03130.hp2 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0019 others(1): Show a0001c0001t0005 a0001c0001t0014 a0001c0001t0019 a0001c0001t0026	a0001c0001t0005g0099 a0001c0001t0014g0138 a0001c0001t0014g0139 others(7): Show a0001c0001t0005g0099 a0001c0001t0014g0138 a0001c0001t0014g0139 a0001c0001t0014g0192 a0001c0001t0014g0214 a0001c0001t0014g0215 a0001c0001t0014g0217 a0001c0001t0019g0201 a0001c0001t0026g0113 a0001c0001t0026g0220	10	264	0.0379	15	c.179 others(34): Show c.179-17236_179-17222dupCCCTCTCCTCCCCTC	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	2/8			chr6	TogoVar
AGPAT4_chr6_161124967_161279061	161205761	T T	TAATAATA others(8): Show TAATAATAATAATAAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0197 a0001c0001t0047g0197	1	264	0.0038	15	c.178 others(34): Show c.178+26274_178+26275insGTTATTATTATTATT	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	2/8			chr6	TogoVar
AGPAT4_chr6_161124967_161279061	161219901	A A	AGGCAGGC others(8): Show AGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0139 a0001c0001t0014g0139	1	264	0.0038	15	c.178 others(34): Show c.178+12120_178+12134dupGCCTGCCTGCCTGCC	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	2/8			chr6	TogoVar
AGPAT4_chr6_161124967_161279061	161228661	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0078 a0001c0003t0078	a0001c0003t0078g0236 a0001c0003t0078g0236	1	264	0.0038	15	c.178 others(32): Show c.178+3360_178+3374dupTTTTTTTTTTTTTTT	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	2/8			chr6	TogoVar
AGPAT5_chr8_6703642_6766503	6762059	C C	CAGTGAGC others(8): Show CAGTGAGCCAAGGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG02698.hp2 HG03927.hp1 others(1): Show HG01361.hp2 HG02698.hp2 HG03927.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0144 a0001c0001t0003g0197 a0001c0001t0003g0198 others(1): Show a0001c0001t0003g0144 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199	4	404	0.0099	15	c.46 others(26): Show c.4671_*4672insAGTGAGCCAAGGTGG	AGPAT5	ENSG00000155189.12	transcript	ENST00000285518.11	protein_coding		557		chr8	TogoVar
AGPAT5_chr8_6703642_6766503	6762132	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0034 a0001c0001t0007g0034	1	404	0.0025	15	c.47 others(26): Show c.4744_*4745insAAAAAAAAAAAAAAA	AGPAT5	ENSG00000155189.12	transcript	ENST00000285518.11	protein_coding		630		chr8	TogoVar
AGR3_chr7_16854412_16886983	16880537	C C	CTCCTCTC others(8): Show CTCCTCTCCCCTCCTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	458	0.0022	15	c.-28 others(32): Show c.-28+1406_-28+1407insAAGGAGGGGAGAGGA	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding	1/7			chr7	TogoVar
AGTPBP1_chr9_85541539_85746954	85572004	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	302	0.0033	15	c.350 others(34): Show c.3503+3296_3503+3310dupAAAAAAAAAAAAAAA	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	25/25			chr9	TogoVar
AGTR1_chr3_148692903_148748003	148745773	A A	ATATTTTA others(8): Show ATATTTTATTTTATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	350	0.0029	15	c.36 others(26): Show c.3658_*3659insTATTTTATTTTATTT	AGTR1	ENSG00000144891.19	transcript	ENST00000349243.8	protein_coding		2771		chr3	TogoVar
AGTRAP_chr1_11731136_11755769	11747628	A A	ATCCCAAT others(8): Show ATCCCAATCTTCCCCC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	420	0.0024	15	c.168 others(29): Show c.168+86_168+100dupCCAATCTTCCCCCTC	AGTRAP	ENSG00000177674.16	transcript	ENST00000314340.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246834474	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01106.hp1 HG02572.hp2 others(4): Show HG00642.hp2 HG01106.hp1 HG02572.hp2 HG03579.hp1 HG04184.hp2 NA18947.hp1 NA18990.hp1	a0003 a0005 a0014 a0003 a0005 a0014	a0003c0003 a0005c0006 a0014c0022 a0003c0003 a0005c0006 a0014c0022	a0003c0003t0001 a0005c0006t0001 a0014c0022t0001 a0003c0003t0001 a0005c0006t0001 a0014c0022t0001	a0003c0003t0001g0185 a0003c0003t0001g0192 a0003c0003t0001g0226 others(4): Show a0003c0003t0001g0185 a0003c0003t0001g0192 a0003c0003t0001g0226 a0003c0003t0001g0239 a0003c0003t0001g0321 a0005c0006t0001g0289 a0014c0022t0001g0056	7	376	0.0186	15	c.63 others(26): Show c.6331_*6332insAAAAAAAAAAAAAAA	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding		4623		chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246909110	T T	TCTATCTA others(8): Show TCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0009 a0009	a0009c0034 a0009c0034	a0009c0034t0002 a0009c0034t0002	a0009c0034t0002g0164 a0009c0034t0002g0164	1	376	0.0027	15	c.557 others(32): Show c.557-1353_557-1352insTAGATAGATAGATAG	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	4/35			chr1	TogoVar
AHCYL2_chr7_129220030_129435211	129299369	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	292	0.0034	15	c.363 others(34): Show c.363+73958_363+73972dupTTTTTTTTTTTTTTT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129403860	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	292	0.0034	15	c.102 others(32): Show c.1025+392_1025+406dupAAAAAAAAAAAAAAA	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129403902	C C	GTATGAGG others(8): Show GTATGAGGTAACCACA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02273.hp2 HG04115.hp1 HG01123.hp2 HG02273.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0033 a0001c0001t0011g0290 a0001c0001t0011g0291 a0001c0001t0011g0033 a0001c0001t0011g0290 a0001c0001t0011g0291	3	292	0.0103	15	c.102 others(28): Show c.1025+417delCinsGTATGAGGTAACCACA	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	7/16			chr7	TogoVar
AHI1_chr6_135278532_135502740	135294323	C C	CACAAAAC others(8): Show CACAAAACAAAACAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0007 a0001c0013t0007	a0001c0013t0007g0168 a0001c0013t0007g0168	1	220	0.0046	15	c.348 others(34): Show c.3486-3799_3486-3798insTTTGTTTTGTTTTGT	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	27/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135482894	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00609.hp1 others(35): Show HG00140.hp1 HG00438.hp1 HG00609.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01243.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp2 HG02004.hp1 HG02132.hp2 HG02148.hp2 HG02257.hp1 HG02273.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02698.hp2 HG02809.hp2 HG03041.hp1 HG03453.hp1 HG03654.hp2 HG03669.hp2 HG03831.hp2 NA18522.hp1 NA18944.hp1 NA18952.hp2 NA18960.hp2 NA19007.hp2 NA19010.hp2 NA19084.hp1 NA20805.hp2	a0001 a0007 a0009 others(1): Show a0001 a0007 a0009 a0010	a0001c0001 a0001c0006 a0007c0012 others(2): Show a0001c0001 a0001c0006 a0007c0012 a0009c0017 a0010c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0006t0002 a0007c0012t0001 a0009c0017t0003 a0010c0020t0004	a0001c0001t0001g0007 a0001c0001t0001g0116 a0001c0001t0001g0127 others(35): Show a0001c0001t0001g0007 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0002g0128 a0001c0001t0003g0029 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0006t0002g0150 a0001c0006t0002g0151 a0007c0012t0001g0158 a0009c0017t0003g0030 a0010c0020t0004g0115	38	220	0.1727	15	c.135 others(32): Show c.135+7714_135+7728dupAAAAAAAAAAAAAAA	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	5/28			chr6	TogoVar
AHRR_chr5_316714_443285	343728	A A	AGGGGTCC others(8): Show AGGGGTCCCGGGCCAG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	268	0.0037	15	c.-10 others(30): Show c.-10-156_-10-142dupGGGCCAGGGGGTCCC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	397618	T T	TCCACGTA others(8): Show TCCACGTAGCTCCTGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG00741.hp2 others(15): Show HG00140.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01109.hp1 HG01175.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG02004.hp2 HG02683.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0029 a0001c0001t0056 a0002c0002t0006 others(5): Show a0001c0001t0029 a0001c0001t0056 a0002c0002t0006 a0002c0002t0010 a0002c0002t0019 a0003c0004t0004 a0003c0004t0012 a0003c0004t0028	a0001c0001t0029g0012 a0001c0001t0056g0177 a0002c0002t0006g0008 others(13): Show a0001c0001t0029g0012 a0001c0001t0056g0177 a0002c0002t0006g0008 a0002c0002t0010g0015 a0002c0002t0019g0007 a0003c0004t0004g0002 a0003c0004t0004g0003 a0003c0004t0004g0004 a0003c0004t0004g0005 a0003c0004t0004g0009 a0003c0004t0004g0011 a0003c0004t0004g0014 a0003c0004t0004g0185 a0003c0004t0012g0001 a0003c0004t0028g0006 a0003c0004t0028g0217	18	268	0.0672	15	c.352 others(34): Show c.352-15723_352-15722insCGTAGCTCCTGACCA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	441497	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG04204.hp1 HG01517.hp2 HG04204.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0010c0020 a0002c0002 a0010c0020	a0002c0002t0001 a0010c0020t0001 a0002c0002t0001 a0010c0020t0001	a0002c0002t0001g0010 a0010c0020t0001g0170 a0002c0002t0001g0010 a0010c0020t0001g0170	2	268	0.0075	15	c.66 others(26): Show c.6663_*6664insTTTTTTTTTTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3213		chr5	TogoVar
AHRR_chr5_316714_443285	443223	C C	CGGAGGGG others(8): Show CGGAGGGGGCGGCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	268	0.0037	15	c.83 others(26): Show c.8389_*8390insGGAGGGGGCGGCGGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		4939		chr5	TogoVar
AHR_chr7_17293652_17351147	17298578	T T	TCGGGGCG others(8): Show TCGGGGCGGGGCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	370	0.0027	15	c.-68 others(24): Show c.-687_-686insCGGGGCGGGGCGGGG	AHR	ENSG00000106546.14	transcript	ENST00000242057.9	protein_coding		73		chr7	TogoVar
AHR_chr7_17293652_17351147	17298580	T T	TGGGCGGG others(8): Show TGGGCGGGGCGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(113): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02300.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02809.hp1 HG02965.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03831.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18947.hp1 NA18950.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA18997.hp1 NA18999.hp2 NA19001.hp1 NA19009.hp2 NA19012.hp2 NA19055.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0003 a0001c0014 others(3): Show a0001c0001 a0001c0003 a0001c0014 a0002c0002 a0005c0005 a0006c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0019 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0003t0034 a0001c0014t0003 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0026 a0005c0005t0003 a0006c0011t0001	a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0040 others(76): Show a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0132 a0001c0001t0001g0153 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0245 a0001c0001t0003g0001 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0052 a0001c0001t0003g0073 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0206 a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0234 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0003g0244 a0001c0001t0004g0238 a0001c0001t0005g0001 a0001c0001t0005g0127 a0001c0001t0005g0199 a0001c0001t0005g0203 a0001c0001t0005g0211 a0001c0001t0005g0212 a0001c0001t0005g0213 a0001c0001t0005g0223 a0001c0001t0008g0013 a0001c0001t0008g0111 a0001c0001t0008g0112 a0001c0001t0009g0011 a0001c0001t0009g0051 a0001c0001t0014g0180 a0001c0001t0019g0044 a0001c0001t0024g0227 a0001c0001t0025g0021 a0001c0001t0027g0220 a0001c0001t0028g0001 a0001c0001t0029g0215 a0001c0001t0030g0225 a0001c0001t0031g0072 a0001c0001t0032g0022 a0001c0001t0033g0114 a0001c0003t0034g0243 a0001c0014t0003g0205 a0002c0002t0002g0078 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0004g0096 a0002c0002t0006g0005 a0002c0002t0006g0048 a0002c0002t0006g0128 a0002c0002t0006g0231 a0002c0002t0006g0232 a0002c0002t0006g0233 a0002c0002t0006g0235 a0002c0002t0007g0015 a0002c0002t0026g0005 a0005c0005t0003g0046 a0006c0011t0001g0179	116	370	0.3135	15	c.-68 others(24): Show c.-685_-684insGGGCGGGGCGGGGCG	AHR	ENSG00000106546.14	transcript	ENST00000242057.9	protein_coding		71		chr7	TogoVar
AHSA1_chr14_77453093_77474472	77468721	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	308	0.0033	15	c.844 others(30): Show c.844+223_844+237dupTTTTTTTTTTTTTTT	AHSA1	ENSG00000100591.8	transcript	ENST00000216479.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
AIF1_chr6_31610234_31622015	31620209	C C	CCCTCCGG others(8): Show CCCTCCGGCAGCTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	437	0.0023	15	c.33 others(26): Show c.3309_*3310insCCTCCGGCAGCTAAT	AIF1	ENSG00000204472.13	transcript	ENST00000376059.8	protein_coding		3195		chr6	TogoVar
AIFM1_chrX_130124362_130170841	130150977	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	262	0.0038	15	c.250 others(32): Show c.250-1424_250-1410dupTTTTTTTTTTTTTTT	AIFM1	ENSG00000156709.15	transcript	ENST00000287295.8	protein_coding	2/15			chrX	TogoVar
AIG1_chr6_143055889_143346058	143143524	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0047 a0001c0002t0002g0047	1	204	0.0049	15	c.297 others(32): Show c.297+6534_297+6535insTATATATATATATAT	AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	2/5			chr6	TogoVar
AIG1_chr6_143055889_143346058	143143526	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	204	0.0049	15	c.297 others(32): Show c.297+6536_297+6537insTATATATATATATAT	AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	2/5			chr6	TogoVar
AIG1_chr6_143055889_143346058	143143528	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0014	1	204	0.0049	15	c.297 others(32): Show c.297+6539_297+6540insAAAAAAATATATATA	AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
AIG1_chr6_143055889_143346058	143143528	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18954.hp2 NA18984.hp1 NA18612.hp1 NA18954.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0095 a0001c0002t0002g0006 a0001c0002t0002g0034 a0001c0001t0002g0095 a0001c0002t0002g0006 a0001c0002t0002g0034	3	204	0.0147	15	c.297 others(32): Show c.297+6539_297+6540insAAAAATATATATATA	AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
AIG1_chr6_143055889_143346058	143143528	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18970.hp2 NA18612.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0140 a0001c0001t0003g0118 a0001c0001t0001g0140 a0001c0001t0003g0118	2	204	0.0098	15	c.297 others(32): Show c.297+6539_297+6540insATATATATATATATA	AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18963.hp2 NA18957.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0121 a0001c0001t0001g0122	2	442	0.0045	15	c.135 others(30): Show c.135+477_135+478insAAAAAAATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	442	0.0023	15	c.135 others(30): Show c.135+477_135+478insAAAAATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAATAT others(8): Show AAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	442	0.0023	15	c.135 others(30): Show c.135+477_135+478insAAATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18999.hp2 HG03688.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0229 a0001c0001t0001g0230	2	442	0.0045	15	c.135 others(30): Show c.135+477_135+478insATATATATATATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02165.hp1 NA18992.hp1 others(1): Show HG02129.hp1 HG02165.hp1 NA18992.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0002g0340 others(1): Show a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0002g0340 a0001c0002t0001g0248	4	442	0.0091	15	c.135 others(30): Show c.135+476_135+477insTATATATATATATAT	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3			chr7	TogoVar
AIPL1_chr17_6418738_6440121	6421853	A A	AAAAAGAA others(8): Show AAAAAGAAAAGAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01993.hp1 HG02083.hp1 others(10): Show HG00099.hp2 HG01993.hp1 HG02083.hp1 HG02273.hp2 HG02683.hp2 HG03490.hp1 HG03492.hp2 NA18939.hp2 NA18947.hp2 NA18974.hp1 NA19006.hp1 NA19059.hp1 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0002t0046 a0002c0003t0001	a0001c0001t0002g0035 a0001c0001t0002g0259 a0001c0001t0002g0261 others(9): Show a0001c0001t0002g0035 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0008g0256 a0001c0002t0001g0007 a0001c0002t0001g0032 a0001c0002t0001g0145 a0001c0002t0046g0184 a0002c0003t0001g0001 a0002c0003t0001g0023 a0002c0003t0001g0112	13	454	0.0286	15	c.35 others(26): Show c.3592_*3606dupCTTTTCTTTTCTTTT	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding		1884		chr17	TogoVar
AIPL1_chr17_6418738_6440121	6423531	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0129 a0002c0003t0001g0129	1	454	0.0022	15	c.19 others(26): Show c.1928_*1929insTTGTTTTTTTTTTTT	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding		206		chr17	TogoVar
AIPL1_chr17_6418738_6440121	6431210	C C	CCTGAATC others(8): Show CCTGAATCACTTGGAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0147 a0001c0002t0003g0147	1	454	0.0022	15	c.277 others(32): Show c.277-2705_277-2704insCTCCAAGTGATTCAG	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding	2/5			chr17	TogoVar
AIPL1_chr17_6418738_6440121	6436026	A A	ATCCCCTC others(8): Show ATCCCCTCCCCTCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0057 a0001c0002t0057	a0001c0002t0057g0183 a0001c0002t0057g0183	1	454	0.0022	15	c.-92 others(24): Show c.-923_-922insGGGGAGGGGAGGGGA	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding		906		chr17	TogoVar
AIRE_chr21_44280876_44303648	44303441	A A	AAAAAAGA others(8): Show AAAAAAGACTTGATCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0003 a0002c0015t0003	a0002c0015t0003g0211 a0002c0015t0003g0211	1	426	0.0024	15	c.57 others(26): Show c.5714_*5715insAAAAAGACTTGATCG	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding		4794		chr21	TogoVar
AJAP1_chr1_4649609_4797534	4651882	C C	CAATAATA others(8): Show CAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0070 a0002c0011t0070	a0002c0011t0070g0308 a0002c0011t0070g0308	1	334	0.0030	15	c.-35 others(26): Show c.-3544_-3543insAATAATAATAATAAT	AJAP1	ENSG00000196581.11	transcript	ENST00000378191.5	protein_coding		2726		chr1	TogoVar

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