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
ADAMTS19_chr5_129455298_129743683	129578103	C C	CCTATATG others(103): Show CCTATATGCATGTATATGTACGTATACGTACATATACCTATATGCATGTA TATGTACGTATACGTACATATACCTATATGCATGTATATGTACGTATACG TACATATACCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03130.hp2 HG02258.hp1 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0005 a0002c0004t0005 a0001c0001t0005 a0002c0004t0005	a0001c0001t0005g0221 a0002c0004t0005g0097 a0001c0001t0005g0221 a0002c0004t0005g0097	2	226	0.0089	110	c.137 others(131): Show c.1373-18456_1373-18455insCTATATGCATGTATATGTACGTAT ACGTACATATACCTATATGCATGTATATGTACGTATACGTACATATACCT ATATGCATGTATATGTACGTATACGTACATATACCT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	7/22			chr5	TogoVar
ADAMTSL3_chr15_83649123_84044842	83903924	A A	AGGAAGGA others(103): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0241 a0002c0008t0001g0241	1	274	0.0037	110	c.170 others(129): Show c.1700+4193_1700+4194insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29			chr15	TogoVar
ADAMTSL3_chr15_83649123_84044842	83903948	A A	AGGAAGGG others(103): Show AGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGA AGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0026 a0026	a0026c0032 a0026c0032	a0026c0032t0001 a0026c0032t0001	a0026c0032t0001g0091 a0026c0032t0001g0091	1	274	0.0037	110	c.170 others(129): Show c.1700+4217_1700+4218insGGAAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGG	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29			chr15	TogoVar
ADCK5_chr8_144369047_144398242	144372965	C C	CGGAGGAG others(103): Show CGGAGGAGGGGTCACTGGTGGGAGGAGGAGGGGCCACTGGTGGGAGGAGG AGGGGCCACTGGTGGGAGGAGGAGGGGCCACTTGTGGGCGGAGGAGGGGC CACTGGTGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 NA19043.hp2 HG02896.hp2 HG02897.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0197 a0001c0003t0001g0008 a0001c0003t0001g0053 a0001c0001t0001g0197 a0001c0003t0001g0008 a0001c0003t0001g0053	3	346	0.0087	110	c.-11 others(121): Show c.-1131_-1130insGGAGGAGGGGTCACTGGTGGGAGGAGGAGGGGCC ACTGGTGGGAGGAGGAGGGGCCACTGGTGGGAGGAGGAGGGGCCACTTGT GGGCGGAGGAGGGGCCACTGGTGGGA	ADCK5	ENSG00000173137.12	transcript	ENST00000308860.11	protein_coding		1081		chr8	TogoVar
ADGRE2_chr19_14727392_14783560	14749524	A A	ATAATTAT others(103): Show ATAATTATTTATAGTTATGTAATATAATTATTTATAGTTATGTAATATAA TTATTTATAGTTATGTTATGTAATTATTTATAGTTATATAATTATTTATA GTTATGTTATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00639.hp2 others(83): Show HG00099.hp1 HG00544.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp1 HG01243.hp1 HG01361.hp2 HG01496.hp1 HG01943.hp1 HG01978.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18944.hp2 NA18945.hp1 NA18950.hp1 NA18960.hp1 NA18963.hp2 NA18971.hp1 NA18986.hp1 NA18990.hp2 NA19000.hp1 NA19007.hp1 NA19010.hp2 NA19060.hp2 NA19074.hp1 NA19083.hp1 NA19083.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0007 a0009 a0012 a0019 a0021 a0028 a0029	a0001c0001 a0001c0010 a0001c0011 others(12): Show a0001c0001 a0001c0010 a0001c0011 a0001c0012 a0002c0002 a0002c0013 a0002c0032 a0004c0004 a0007c0008 a0009c0018 a0012c0016 a0019c0038 a0021c0028 a0028c0022 a0029c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(28): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0047 a0001c0001t0051 a0001c0010t0001 a0001c0011t0009 a0001c0011t0044 a0001c0012t0009 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0002c0002t0009 a0002c0002t0014 a0002c0002t0019 a0002c0013t0006 a0002c0032t0003 a0004c0004t0007 a0004c0004t0016 a0004c0004t0020 a0004c0004t0036 a0004c0004t0042 a0004c0004t0049 a0007c0008t0037 a0009c0018t0001 a0009c0018t0041 a0012c0016t0001 a0019c0038t0001 a0021c0028t0001 a0028c0022t0001 a0029c0021t0006	a0001c0001t0001g0120 a0001c0001t0001g0142 a0001c0001t0001g0144 others(83): Show a0001c0001t0001g0120 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0073 a0001c0001t0003g0075 a0001c0001t0003g0081 a0001c0001t0003g0087 a0001c0001t0006g0009 a0001c0001t0006g0019 a0001c0001t0006g0029 a0001c0001t0047g0150 a0001c0001t0051g0191 a0001c0010t0001g0168 a0001c0011t0009g0115 a0001c0011t0009g0130 a0001c0011t0044g0114 a0001c0012t0009g0128 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0169 a0002c0002t0001g0174 a0002c0002t0003g0088 a0002c0002t0003g0109 a0002c0002t0003g0111 a0002c0002t0006g0005 a0002c0002t0006g0037 a0002c0002t0006g0055 a0002c0002t0009g0121 a0002c0002t0014g0057 a0002c0002t0014g0058 a0002c0002t0019g0040 a0002c0002t0019g0041 a0002c0013t0006g0051 a0002c0032t0003g0099 a0004c0004t0007g0006 a0004c0004t0007g0047 a0004c0004t0007g0054 a0004c0004t0016g0122 a0004c0004t0016g0123 a0004c0004t0016g0124 a0004c0004t0020g0042 a0004c0004t0036g0062 a0004c0004t0042g0104 a0004c0004t0049g0113 a0007c0008t0037g0110 a0009c0018t0001g0213 a0009c0018t0041g0102 a0012c0016t0001g0151 a0012c0016t0001g0154 a0019c0038t0001g0175 a0021c0028t0001g0149 a0028c0022t0001g0119 a0029c0021t0006g0010	86	218	0.3945	110	c.202 others(129): Show c.2024+1911_2024+1912insCATAACATAACTATAAATAATTATAT AACTATAAATAATTACATAACATAACTATAAATAATTATATTACATAACT ATAAATAATTATATTACATAACTATAAATAATTA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	16/20			chr19	TogoVar
ADGRE3_chr19_14614117_14679844	14620422	A A	ATATATGA others(103): Show ATATATGAATATATATGTATATTCATGTATATATGAATATATATGTATAT TCATGTATATATGAATATATATGTATATTCATGTATATATGAATATATAT GTATATTCATG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	372	0.0027	110	c.192 others(127): Show c.1921-952_1921-951insCATGAATATACATATATATTCATATATA CATGAATATACATATATATTCATATATACATGAATATACATATATATTCA TATATACATGAATATACATATATATTCATATA	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	15/15			chr19	TogoVar
ADGRE3_chr19_14614117_14679844	14636145	T T	TCTTCCTT others(103): Show TCTTCCTTCCTTCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCCCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0213 a0004c0004t0001g0213	1	372	0.0027	110	c.148 others(129): Show c.1484+1959_1484+1960insGAAGGAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGAAAGGA AAGGAAAGGAAAGGAAAGGAAGGAAGGAAGGAAG	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	11/15			chr19	TogoVar
ADGRG6_chr6_142297007_142451261	142318118	T T	TTTATATT others(103): Show TTTATATTTATATATTATATATTTATATAATATATATTTATATAATATAT ATTTATATAATATATATTTATATATTATATATTTATATATTATATATTTA TATATTATATA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0131 a0001c0002t0003g0131	1	260	0.0039	110	c.103 others(127): Show c.103+8475_103+8476insTATATTTATATATTATATATTTATATAA TATATATTTATATAATATATATTTATATAATATATATTTATATATTATAT ATTTATATATTATATATTTATATATTATATAT	ADGRG6	ENSG00000112414.15	transcript	ENST00000367609.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
AFF2_chrX_148495617_149005663	148704380	T T	TTATATAT others(103): Show TTATATATATATGTGTGTATATATATATTTATATATATGTGTGTATATAT ATATTTATATATATATGTGTGTATATATATATTTATATATATGTGTGTAT ATATATATTTA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0033 a0001c0001t0074g0033	1	169	0.0059	110	c.104 others(131): Show c.1041+41621_1041+41622insATGTGTGTATATATATATTTATAT ATATGTGTGTATATATATATTTATATATATATGTGTGTATATATATATTT ATATATATGTGTGTATATATATATTTATATATATAT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	3/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148704388	A A	ATATGTGT others(103): Show ATATGTGTGTATATATATATTTATATATATGTGTGTATATATATATTTAT ATATATATGTGTGTATATATATATTTATATATATGTGTGTATATATATAT TTATATATATG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	169	0.0059	110	c.104 others(131): Show c.1041+41621_1041+41622insATGTGTGTATATATATATTTATAT ATATGTGTGTATATATATATTTATATATATATGTGTGTATATATATATTT ATATATATGTGTGTATATATATATTTATATATATGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	3/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGBL1_chr15_86074871_86921156	86635254	C C	CCCCCTCC others(103): Show CCCCCTCCCCTCCCCCTCCTCCTTCCCCTCCCCCTCCCCCTCCCCGTCCC CCTCCCCCTCCTTCCCCTCCCCCTCCCCCTCCCCCTCCTTCCCCTCCCCC TCCCCCTCCTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18522.hp2 HG01243.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0047 a0002c0005t0006 a0001c0001t0047 a0002c0005t0006	a0001c0001t0047g0014 a0002c0005t0006g0103 a0001c0001t0047g0014 a0002c0005t0006g0103	2	132	0.0152	110	c.299 others(131): Show c.2995-39010_2995-39009insTCCCCCTCCTCCTTCCCCTCCCCC TCCCCCTCCCCGTCCCCCTCCCCCTCCTTCCCCTCCCCCTCCCCCTCCCC CTCCTTCCCCTCCCCCTCCCCCTCCTTCCCCTCCCC	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL4_chr1_48527854_50028954	49947995	T T	TAAATATA others(103): Show TAAATATATATATTTATAAATATATATTTATATATATAAATATATATATT TATAAATATATATTTATATATATAAATATATATATTTATAAATATATATT TATATATATAA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	104	0.0096	110	c.34+ others(127): Show c.34+75767_34+75768insTTATATATATAAATATATATTTATAAAT ATATATATTTATATATATAAATATATATTTATAAATATATATATTTATAT ATATAAATATATATTTATAAATATATATATTT	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGMO_chr7_15195317_15567015	15529828	T T	TAGATATT others(103): Show TAGATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTC CATATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACGTA TTTCCATATAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02055.hp1 others(4): Show HG01167.hp1 HG01169.hp2 HG02055.hp1 HG02257.hp2 HG02896.hp1 HG03516.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0004 a0001c0005 a0002c0004	a0001c0005t0001 a0001c0005t0002 a0002c0004t0001 others(3): Show a0001c0005t0001 a0001c0005t0002 a0002c0004t0001 a0002c0004t0003 a0002c0004t0004 a0002c0004t0007	a0001c0005t0001g0006 a0001c0005t0001g0007 a0001c0005t0002g0013 others(4): Show a0001c0005t0001g0006 a0001c0005t0001g0007 a0001c0005t0002g0013 a0002c0004t0001g0010 a0002c0004t0003g0012 a0002c0004t0004g0011 a0002c0004t0007g0008	7	236	0.0297	110	c.409 others(129): Show c.409+14943_409+14944insCTATATGGAAATACGTATATAGAATA TCTATATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAG AATATCTATATGGAAATACGTATATAGAATATCT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AHRR_chr5_316714_443285	318187	A A	ACCCTGCA others(103): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00735.hp1 HG00735.hp2 others(14): Show HG00438.hp1 HG00735.hp1 HG00735.hp2 HG02040.hp2 HG02258.hp1 HG02572.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp2 NA18522.hp1 NA19012.hp1 NA19091.hp1 NA19240.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0012 a0016	a0001c0001 a0002c0002 a0003c0004 others(2): Show a0001c0001 a0002c0002 a0003c0004 a0012c0018 a0016c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0017 a0001c0001t0024 a0001c0001t0046 a0001c0001t0057 a0002c0002t0001 a0003c0004t0004 a0012c0018t0017 a0016c0012t0020	a0001c0001t0001g0253 a0001c0001t0001g0263 a0001c0001t0002g0114 others(14): Show a0001c0001t0001g0253 a0001c0001t0001g0263 a0001c0001t0002g0114 a0001c0001t0003g0162 a0001c0001t0003g0259 a0001c0001t0006g0262 a0001c0001t0007g0032 a0001c0001t0013g0254 a0001c0001t0017g0264 a0001c0001t0024g0031 a0001c0001t0046g0252 a0001c0001t0057g0251 a0002c0002t0001g0105 a0002c0002t0001g0107 a0003c0004t0004g0183 a0012c0018t0017g0265 a0016c0012t0020g0239	17	268	0.0634	110	c.-36 others(121): Show c.-3643_-3642insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3526		chr5	TogoVar
AHRR_chr5_316714_443285	318187	A A	ACCCTGCA others(103): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCAC CTCCCCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0013 a0001c0001t0029g0013	1	268	0.0037	110	c.-36 others(121): Show c.-3643_-3642insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCC GCCCTCACCCTGCACCTCCCCCCCTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3526		chr5	TogoVar
AK3_chr9_4704556_4746202	4735314	T T	TATATATA others(103): Show TATATATATACATATATAAATATATATATACATATATAAATATATATACA TATATAAATATATATACATATATAAATATATATACATATATAAATATATA TACATATATAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0020 a0001c0001t0011g0020	1	462	0.0022	110	c.151 others(127): Show c.151+5622_151+5623insTTATATATGTATATATATTTATATATGT ATATATATTTATATATGTATATATATTTATATATGTATATATATTTATAT ATGTATATATATATTTATATATGTATATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735334	T T	TATATATA others(103): Show TATATATACATATATAAATATATATACATATATAAATATATATACATATA TAAATATATATATACATATATAAATATATATACATATATAAATATATATA TACATATATAA	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0315 a0001c0001t0002g0315	1	462	0.0022	110	c.151 others(127): Show c.151+5602_151+5603insTTATATATGTATATATATATTTATATAT GTATATATATTTATATATGTATATATATATTTATATATGTATATATATTT ATATATGTATATATATTTATATATGTATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK3_chr9_4704556_4746202	4735334	T T	TATATATA others(103): Show TATATATACATATATAAATATATATACATATATAAATATATATATACATA TATAAATATATATACATATATAAATATATATATACATATATAAATATATA TACATATATAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18747.hp1 HG02015.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0150 a0001c0001t0003g0314 a0001c0001t0002g0150 a0001c0001t0003g0314	2	462	0.0043	110	c.151 others(127): Show c.151+5602_151+5603insTTATATATGTATATATATTTATATATGT ATATATATATTTATATATGTATATATATTTATATATGTATATATATATTT ATATATGTATATATATTTATATATGTATATAT	AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4			chr9	TogoVar
AK8_chr9_132720578_132883284	132822220	T T	TATGTGTA others(103): Show TATGTGTATGTATATACAAATATATACATATGTGTATGTATATACAAATA TATACATATGTGTATGTATATACAAATATATACATATGTGTATGTATATA CAAATATATAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0021 a0002c0002t0002g0021	1	266	0.0038	110	c.889 others(125): Show c.889+984_889+985insGTATATATTTGTATATACATACACATATGT ATATATTTGTATATACATACACATATGTATATATTTGTATATACATACAC ATATGTATATATTTGTATATACATACACAT	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	9/12			chr9	TogoVar
AMFR_chr16_56356452_56430545	56398096	A A	ATGTATCA others(103): Show ATGTATCATTTATAATATATAACTGTATCATTTATAATATATAAATGTAT CATTTATAATATATAACTGTATCATTTATAATATATAACTGTATCATTTA TAATATATAAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03516.hp1 HG03486.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0324 a0001c0002t0012g0329 a0001c0002t0012g0324 a0001c0002t0012g0329	2	356	0.0056	110	c.108 others(129): Show c.1085+3636_1085+3637insGTTATATATTATAAATGATACAGTTA TATATTATAAATGATACAGTTATATATTATAAATGATACATTTATATATT ATAAATGATACAGTTATATATTATAAATGATACA	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56398118	A A	ATGTATCA others(103): Show ATGTATCATTTATAATATATAAATGTATCATTTATAATATATAACTGTAT CATTTATAATATATAACTGTATCATTTATAATATATAACTGTATCATTTA TAATATATAAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0327 a0001c0002t0012g0327	1	356	0.0028	110	c.108 others(129): Show c.1085+3614_1085+3615insGTTATATATTATAAATGATACAGTTA TATATTATAAATGATACAGTTATATATTATAAATGATACAGTTATATATT ATAAATGATACATTTATATATTATAAATGATACA	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56398120	G G	GTATCATT others(103): Show GTATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCA TTTATAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATA ATATATAACTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	356	0.0028	110	c.108 others(129): Show c.1085+3612_1085+3613insGAGTTATATATTATAAATGATACATT TATATATTATAAATGATACATTTATATATTATAAATGATACATTTATATA TTATAAATGATACATTTATATATTATAAATGATA	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13			chr16	TogoVar
ANAPC1_chr2_111762640_111889193	111764839	C C	CATATATA others(103): Show CATATATATATACACATATATATATACACGTATATATATACGTATATATA TATACGTGTATATATATGTGTATATATATATACGTATATATATACGTATA TATATACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0229 a0001c0002t0002g0229	1	370	0.0027	110	c.44 others(121): Show c.4451_*4452insATATGTATATATATACGTATATATATACGTATAT ATATATACACATATATATACACGTATATATATATACGTATATATATACGT GTATATATATATGTGTATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2800		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764880	A A	ACGTGTAT others(103): Show ACGTGTATATATATATACATATATATACACGTATATATATGTATATATAT ATACGTGTATATATATATACATATATATACACGTATATATATATGTATAT ATATATACGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02922.hp2 NA20300.hp2 HG01243.hp1 HG02922.hp2 NA20300.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0007 a0001c0010t0007	a0001c0010t0007g0311 a0001c0010t0007g0312 a0001c0010t0007g0313 a0001c0010t0007g0311 a0001c0010t0007g0312 a0001c0010t0007g0313	3	370	0.0081	110	c.44 others(121): Show c.4410_*4411insCACGTATATATATATACATATATATATACGTGTA TATATATGTATATATATATACACGTATATATATATACATATATATACGTG TATATATATGTATATATATATACACG	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2759		chr2	TogoVar
ANGEL1_chr14_76781009_76817882	76793391	A A	AGGAGGGG others(103): Show AGGAGGGGAGGGTAGGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAG AGGAGGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGAGGAG GGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01167.hp1 HG01516.hp2 others(5): Show HG01106.hp2 HG01167.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG02055.hp2 HG02602.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0036 a0001c0001t0002g0187 others(2): Show a0001c0001t0002g0015 a0001c0001t0002g0036 a0001c0001t0002g0187 a0001c0001t0002g0196 a0001c0001t0002g0222	8	396	0.0202	110	c.161 others(129): Show c.1619-2026_1619-2025insCCTCCCCTCCCCTCCTCTCCCCTCCC CTCCCCTCCCCTCCTCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCC CTCCTCTCCCCTCCCCTCCCCTACCCTCCCCTCC	ANGEL1	ENSG00000013523.11	transcript	ENST00000251089.8	protein_coding	7/9			chr14	TogoVar
ANXA6_chr5_151095706_151162779	151140577	A A	AATATATA others(103): Show AATATATATATAAATATATATATAAATATATATATATATATATATATATT TATATATATATATATATTTATATATATATATATATATATATATATTTATA TATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	408	0.0025	110	c.19- others(123): Show c.19-335_19-334insATATATATATATATAAATATATATATATATAT ATATATATATAAATATATATATATATATAAATATATATATATATATATAT ATATTTATATATATATTTATATATATAT	ANXA6	ENSG00000197043.15	transcript	ENST00000354546.10	protein_coding	2/25			chr5	TogoVar
AOC2_chr17_42839580_42855707	42848544	T T	TATATATA others(103): Show TATATATATACGTATATATATATATATATATACACGTATATATATATATA TATATACACGTATATATATATATATATATATACGTATATATATATATATA TATATATATAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	290	0.0035	110	c.158 others(127): Show c.1589-541_1589-540insTATATATACGTATATATATATATATATA TACACGTATATATATATATATATATACACGTATATATATATATATATATA TACGTATATATATATATATATATATATATACA	AOC2	ENSG00000131480.9	transcript	ENST00000253799.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
AOC3_chr17_42846199_42863124	42848544	T T	TATATATA others(103): Show TATATATATACGTATATATATATATATATATACACGTATATATATATATA TATATACACGTATATATATATATATATATATACGTATATATATATATATA TATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	284	0.0035	110	c.-28 others(121): Show c.-2800_-2799insATATATATACGTATATATATATATATATATACAC GTATATATATATATATATATACACGTATATATATATATATATATATACGT ATATATATATATATATATATATATAC	AOC3	ENSG00000131471.7	transcript	ENST00000308423.7	protein_coding		2654		chr17	TogoVar
ARCN1_chr11_118567409_118608033	118581929	G G	GACACACA others(103): Show GACACACACACACACACCCCTCTTCTAAGACTTTATGCCAAAGTCTTGCT TAAAATGAAGACTTAGGTAAGACTTACTGATCCAGAGACAGACAGACACA CACACACACAC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18977.hp1 NA18971.hp2 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0089 a0001c0002t0002g0104 a0001c0002t0002g0089 a0001c0002t0002g0104	2	368	0.0054	110	c.267 others(125): Show c.267+423_267+424insCACACACACACACCCCTCTTCTAAGACTTT ATGCCAAAGTCTTGCTTAAAATGAAGACTTAGGTAAGACTTACTGATCCA GAGACAGACAGACACACACACACACACACA	ARCN1	ENSG00000095139.15	transcript	ENST00000264028.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARFIP1_chr4_152774954_152917357	152804338	A A	ATATATAA others(103): Show ATATATAATATAACATGTATTATATATTATATATAATATAACATGTATTA TATATTATATATAATATAACATGTATTATATATTATATATAATATAACAT GTATTATATAT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	342	0.0029	110	c.-10 others(129): Show c.-10+24118_-10+24119insATATAACATGTATTATATATTATATA TAATATAACATGTATTATATATTATATATAATATAACATGTATTATATAT TATATATAATATAACATGTATTATATATTATATA	ARFIP1	ENSG00000164144.16	transcript	ENST00000353617.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGDIG_chr16_275591_288010	285937	C C	CCCCAACA others(103): Show CCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCC CAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAAC CCCCCGGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	442	0.0023	110	c.31 others(121): Show c.3123_*3124insCCCAACACCAACCCCGCGGTTCTCCCAACCCCAA CCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGT TCTCCCAACCCCAACCCCCCGGTTCT	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2928		chr16	TogoVar
ARHGEF18_chr19_7343937_7477478	7367761	A A	ATATATAT others(103): Show ATATATATATATATACACATATATATATTTTATATATATATACACATATA TATATTTTATATATATATACACATATATATATTTTATATATATATACACA TATATATATTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA19004.hp1 HG00673.hp1 NA19004.hp1	a0002 a0002	a0002c0004 a0002c0006 a0002c0004 a0002c0006	a0002c0004t0002 a0002c0006t0003 a0002c0004t0002 a0002c0006t0003	a0002c0004t0002g0231 a0002c0006t0003g0240 a0002c0004t0002g0231 a0002c0006t0003g0240	2	298	0.0067	110	c.15+ others(125): Show c.15+4868_15+4869insTACACATATATATATTTTATATATATATAC ACATATATATATTTTATATATATATACACATATATATATTTTATATATAT ATACACATATATATATTTTATATATATATA	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF1_chr19_41878184_41912452	41894123	A A	AGAGAGAG others(103): Show AGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGTGTGTG TGTGTGGGGCGGGGGGGGGGGGGGGCGGGCCTCTGCCTCTAGGGGGAGAG AGAGAGAGTGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	234	0.0043	110	c.645 others(123): Show c.645-83_645-82insAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTG TGCGCGCGCGTGTGTGTGTGTGGGGCGGGGGGGGGGGGGGGCGGGCCTCT GCCTCTAGGGGGAGAGAGAGAGAGTGTG	ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF7_chr13_111110310_111310732	111221433	A A	ATATATAG others(103): Show ATATATAGATATCTATATAGATATATATGTCTATATATATCTATATAGAT ATATATGTCTATATATATCTATATATAGATATATATAGACATATATATCT ATATAGATATC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02622.hp1 NA19011.hp2 HG00558.hp2 HG02622.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0032 a0001c0001t0006g0090 a0001c0001t0006g0218 a0001c0001t0006g0032 a0001c0001t0006g0090 a0001c0001t0006g0218	3	274	0.0110	110	c.670 others(127): Show c.670+3553_670+3554insTATATAGATATCTATATAGATATATATG TCTATATATATCTATATAGATATATATGTCTATATATATCTATATATAGA TATATATAGACATATATATCTATATAGATATC	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21			chr13	TogoVar
ARID3A_chr19_921035_980939	979829	T T	TCTCCCCA others(103): Show TCTCCCCAGCCAGGGAGGGACTCAGCCCCCCACCTCCTCCCCAGGCCCCC ACCTCCCTCCCCAGCCAGGGAGGGACTCAGCCCCCCACCTCCTCCCCAGG CCCCCACCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0102 a0002c0002t0102	a0002c0002t0102g0242 a0002c0002t0102g0242	1	364	0.0028	110	c.77 others(121): Show c.7764_*7765insCTCCCCAGCCAGGGAGGGACTCAGCCCCCCACCT CCTCCCCAGGCCCCCACCTCCCTCCCCAGCCAGGGAGGGACTCAGCCCCC CACCTCCTCCCCAGGCCCCCACCTCC	ARID3A	ENSG00000116017.11	transcript	ENST00000263620.8	protein_coding		3891		chr19	TogoVar
ARID3A_chr19_921035_980939	979841	G G	GGGAGGGA others(103): Show GGGAGGGACTCAGCCCCCCACCTCCTCCCCAGGCCCCCACCTCCCTCCCC AGCCAGGGAGGGACTCAGCCCCCCACCTCCTCCCCAGGCCCCCACCTCCC TCCCCAGCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG02083.hp2 HG03017.hp2 others(4): Show HG01978.hp1 HG02083.hp2 HG03017.hp2 NA18944.hp2 NA18946.hp1 NA18970.hp2 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0093 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0007t0093 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0002t0030 a0002c0002t0085	a0001c0007t0093g0208 a0002c0002t0001g0126 a0002c0002t0001g0225 others(4): Show a0001c0007t0093g0208 a0002c0002t0001g0126 a0002c0002t0001g0225 a0002c0002t0002g0114 a0002c0002t0010g0186 a0002c0002t0030g0321 a0002c0002t0085g0223	7	364	0.0192	110	c.77 others(121): Show c.7776_*7777insGGAGGGACTCAGCCCCCCACCTCCTCCCCAGGCC CCCACCTCCCTCCCCAGCCAGGGAGGGACTCAGCCCCCCACCTCCTCCCC AGGCCCCCACCTCCCTCCCCAGCCAA	ARID3A	ENSG00000116017.11	transcript	ENST00000263620.8	protein_coding		3903		chr19	TogoVar
ARL13B_chr3_93975155_94060678	94043554	C C	CCCCCTCC others(103): Show CCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCC CCTCCCCCTCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTC CCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	264	0.0038	110	c.102 others(127): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCTCCCCCTCCCTCCCCTCCCCCTCCCCCTCCC CCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ASCC3_chr6_100503194_100886329	100608062	A A	ATATATAT others(103): Show ATATATATACATATATATGTATATATCGATATACACATATATATGTATAT ATATCTATATATACATATATATGTATATATATGTATATATACATATATAT GTATATATATG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01515.hp1 HG01517.hp1 HG00741.hp2 HG01515.hp1 HG01517.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0157 a0002c0003t0002g0158 a0002c0003t0002g0159 a0002c0003t0002g0157 a0002c0003t0002g0158 a0002c0003t0002g0159	3	314	0.0096	110	c.478 others(127): Show c.4786-975_4786-974insCATATATATACATATATATGTATATATA CATATATATACATATATATGTATATATAGATATATATACATATATATGTG TATATCGATATATACATATATATGTATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608119	T T	TATATATA others(103): Show TATATATACATATATATGTATATATATCTATATACACATATATATGTATA TATAGATATATATACATATACATGTATATATATCTATATATACATATATA TGTATATATAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG03471.hp1 others(2): Show HG01884.hp1 HG02258.hp2 HG03471.hp1 HG03516.hp2 NA19240.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0008 a0005c0007t0001 a0005c0007t0008	a0005c0007t0001g0291 a0005c0007t0001g0292 a0005c0007t0001g0293 others(2): Show a0005c0007t0001g0291 a0005c0007t0001g0292 a0005c0007t0001g0293 a0005c0007t0008g0309 a0005c0007t0008g0310	5	314	0.0159	110	c.478 others(129): Show c.4786-1032_4786-1031insCTATATATACATATATATGTATATAT AGATATATATACATGTATATGTATATATATCTATATATACATATATATGT GTATATAGATATATATACATATATATGTATATAT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ATAD2B_chr2_23743664_23932123	23808068	A A	AATATATA others(103): Show AATATATAAGTAATTATATATATAATTATATATATAAGTAATTATATATA TAATTATATATAATTAATTATATATATAATTATATATATAAGTAATTATA TATATAATTAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18906.hp1 HG03041.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0167 a0001c0001t0001g0172	2	246	0.0081	110	c.245 others(129): Show c.2454+2247_2454+2248insATAATTATATATATAATTACTTATAT ATATAATTATATATATAATTAATTATATATAATTATATATATAATTACTT ATATATATAATTATATATATAATTACTTATATAT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	18/27			chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23808146	A A	ATAATTAT others(103): Show ATAATTATATATATAAGTAATTATATATATAATTATATATATATAAGTAA TTATATATATAATTATATATATAAGTAATTATATATATAATTATTATATA TAAGTGATTAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp1 HG01123.hp2 others(1): Show HG00738.hp2 HG01070.hp1 HG01123.hp2 HG03654.hp2	a0001 a0001	a0001c0006 a0001c0016 a0001c0006 a0001c0016	a0001c0006t0001 a0001c0016t0001 a0001c0006t0001 a0001c0016t0001	a0001c0006t0001g0168 a0001c0006t0001g0180 a0001c0006t0001g0181 others(1): Show a0001c0006t0001g0168 a0001c0006t0001g0180 a0001c0006t0001g0181 a0001c0016t0001g0178	4	246	0.0163	110	c.245 others(129): Show c.2454+2169_2454+2170insGTAATCACTTATATATAATAATTATA TATATAATTACTTATATATATAATTATATATATAATTACTTATATATATA TAATTATATATATAATTACTTATATATATAATTA	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	18/27			chr2	TogoVar
ATAD2_chr8_123314850_123401447	123315995	T T	TCCGGGAG others(103): Show TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01168.hp2 HG01192.hp1 others(29): Show HG01099.hp1 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03540.hp1 HG06807.hp2 NA18522.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0005 a0001c0016 a0002c0003 others(5): Show a0001c0005 a0001c0016 a0002c0003 a0002c0004 a0002c0008 a0003c0002 a0003c0011 a0005c0010	a0001c0005t0001 a0001c0016t0001 a0002c0003t0001 others(11): Show a0001c0005t0001 a0001c0016t0001 a0002c0003t0001 a0002c0004t0001 a0002c0004t0003 a0002c0008t0004 a0002c0008t0013 a0003c0002t0001 a0003c0002t0003 a0003c0002t0006 a0003c0002t0007 a0003c0002t0010 a0003c0011t0001 a0005c0010t0001	a0001c0005t0001g0252 a0001c0005t0001g0262 a0001c0016t0001g0132 others(29): Show a0001c0005t0001g0252 a0001c0005t0001g0262 a0001c0016t0001g0132 a0002c0003t0001g0251 a0002c0003t0001g0253 a0002c0003t0001g0254 a0002c0003t0001g0255 a0002c0003t0001g0256 a0002c0003t0001g0257 a0002c0003t0001g0258 a0002c0003t0001g0259 a0002c0003t0001g0260 a0002c0004t0001g0127 a0002c0004t0001g0131 a0002c0004t0003g0004 a0002c0004t0003g0005 a0002c0004t0003g0008 a0002c0004t0003g0009 a0002c0004t0003g0011 a0002c0004t0003g0012 a0002c0008t0004g0014 a0002c0008t0004g0015 a0002c0008t0013g0160 a0003c0002t0001g0128 a0003c0002t0003g0007 a0003c0002t0006g0016 a0003c0002t0007g0010 a0003c0002t0010g0125 a0003c0011t0001g0134 a0003c0011t0001g0136 a0005c0010t0001g0133 a0005c0010t0001g0135	32	278	0.1151	110	c.51 others(121): Show c.5138_*5139insGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGG	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding		3854		chr8	TogoVar
ATP10A_chr15_25673712_25868327	25758488	C C	CCACCTGC others(103): Show CCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA ACTCATTCGAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0018 a0018	a0018c0021 a0018c0021	a0018c0021t0001 a0018c0021t0001	a0018c0021t0001g0198 a0018c0021t0001g0198	1	300	0.0033	110	c.655 others(129): Show c.655-22348_655-22347insATCGAATGAGTTAGGGTGGAGCAGGT GGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGAATGAGTTAGGGTGGAG CAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758488	C C	CCACCTGC others(103): Show CCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTA ACTCATTCGAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0017 a0017	a0017c0020 a0017c0020	a0017c0020t0001 a0017c0020t0001	a0017c0020t0001g0188 a0017c0020t0001g0188	1	300	0.0033	110	c.655 others(129): Show c.655-22348_655-22347insATCGAATGAGTTAGGGTGGAGCAGGT GATCGGAATGAGTTAGGGTGGAGCAGGTGATCGAATGAGTTAGGGTGGAG CAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP11A_chr13_112685038_112892168	112804147	G G	GCCCTCCT others(103): Show GCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTC TCTGCCCTCCTTCCCCTCCTTTTCCTCCTTTCTTCCCTTCCTTCCCTCAT TCCCCTCATTC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	254	0.0039	110	c.163 others(125): Show c.163-799_163-798insCTCCTTTTCCTCCTTCACCTCCCTCCCCCC ATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTTCTTCCCTTCCT TCCCTCATTCCCCTCATTCCCCTCCTTCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79357958	T T	TCTGGGTC others(103): Show TCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTC CGTGTGAGGAACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTG TGAGGGGTGCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02886.hp2 HG02897.hp2 others(4): Show HG02145.hp1 HG02886.hp2 HG02897.hp2 HG03130.hp1 HG03139.hp2 NA18522.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0005 a0001c0001 a0001c0010 a0002c0005	a0001c0001t0001 a0001c0010t0001 a0002c0005t0001 a0001c0001t0001 a0001c0010t0001 a0002c0005t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0091 others(4): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0091 a0001c0001t0001g0116 a0001c0010t0001g0296 a0002c0005t0001g0179 a0002c0005t0001g0242	7	298	0.0235	110	c.290 others(129): Show c.2904-1379_2904-1378insTGTGTGAGGGGTGCCCTGGGTCTGGA GGTGTCCGTGTGAGGAACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTG TCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79358035	C C	CCCTGGGT others(103): Show CCCTGGGTCTGGAGGTGTCCGTGTGAGGAACCCTGTGTGAGGGGTGCCCT GGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGT GTGAGGGGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0001 a0001c0038t0001	a0001c0038t0001g0265 a0001c0038t0001g0265	1	298	0.0034	110	c.290 others(129): Show c.2904-1292_2904-1291insAACCCTGTGTGAGGGGTGCCCTGGGT CTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGA GGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79358160	T T	TCTGGGTC others(103): Show TCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTC CGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTG TGAGGGGTGCC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0171 a0005c0016t0001g0171	1	298	0.0034	110	c.290 others(129): Show c.2904-1164_2904-1163insTCCTGGGTCTGGAGGTGTCCGTGTGA GGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGG TGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79358191	C C	CCCTGGGT others(103): Show CCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGT CTGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGT GTGAGGGGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02155.hp2 others(6): Show HG02055.hp1 HG02145.hp2 HG02155.hp2 HG02615.hp2 HG02630.hp1 HG03486.hp2 HG03579.hp2 NA18960.hp2 NA18980.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0002c0005t0004 a0001c0001t0001 a0002c0005t0001 a0002c0005t0004	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 a0002c0005t0001g0190 a0002c0005t0001g0193 a0002c0005t0001g0194 a0002c0005t0001g0197 a0002c0005t0001g0243 a0002c0005t0004g0184	9	298	0.0302	110	c.290 others(129): Show c.2904-1145_2904-1144insTGTGTGAGGGGTGCCCTGGGTCTGGA GGTGTCTGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTG TCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79358378	C C	CCTGTGTG others(103): Show CCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCC TGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGG TCTGGAGGTGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03195.hp1 NA19043.hp1 HG02717.hp2 HG03195.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0006 a0001c0001t0001 a0001c0014t0006	a0001c0001t0001g0091 a0001c0014t0006g0017 a0001c0014t0006g0093 a0001c0001t0001g0091 a0001c0014t0006g0017 a0001c0014t0006g0093	3	298	0.0101	110	c.290 others(127): Show c.2904-961_2904-960insTCTGGGTCTGGAGGTGTCTGTGTGAGGG GTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGATGC TCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar

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