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
AKAP11_chr13_42267152_42328261	42319906	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0138 a0001c0001t0074g0138	1	378	0.0027	-20	c.70 others(29): Show c.703_*722delGTGTGTGTGTGTGTGTGTGT	AKAP11	ENSG00000023516.9	transcript	ENST00000025301.4	protein_coding	13/13	703	INFO_REALIGN_3_PRIME	chr13	TogoVar
AKAP12_chr6_151234967_151363559	151304488	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp1 HG02572.hp1 others(6): Show HG01243.hp2 HG02559.hp1 HG02572.hp1 HG02717.hp1 HG02897.hp2 HG02976.hp2 HG03139.hp1 HG06807.hp2 NA19043.hp1	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0006 a0008	a0002c0001 a0002c0005 a0003c0004 others(3): Show a0002c0001 a0002c0005 a0003c0004 a0005c0006 a0006c0009 a0008c0044	a0002c0001t0002 a0002c0005t0002 a0003c0004t0003 others(3): Show a0002c0001t0002 a0002c0005t0002 a0003c0004t0003 a0005c0006t0001 a0006c0009t0006 a0008c0044t0034	a0002c0001t0002g0018 a0002c0005t0002g0166 a0003c0004t0003g0006 others(6): Show a0002c0001t0002g0018 a0002c0005t0002g0166 a0003c0004t0003g0006 a0003c0004t0003g0007 a0003c0004t0003g0008 a0005c0006t0001g0035 a0005c0006t0001g0245 a0006c0009t0006g0082 a0008c0044t0034g0009	9	316	0.0285	-20	c.163 others(37): Show c.163-1247_163-1228delAAAAAAAAAAAAAAAAAAAA	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP13_chr15_85375603_85754355	85512813	TTATGTAT others(13): Show TTATGTATGTATGTATGTATG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02602.hp1 HG02698.hp2 others(4): Show HG00639.hp1 HG02602.hp1 HG02698.hp2 HG03239.hp1 HG04184.hp1 NA18906.hp1 NA20752.hp1	a0005 a0008 a0040 a0005 a0008 a0040	a0005c0005 a0008c0009 a0040c0062 a0005c0005 a0008c0009 a0040c0062	a0005c0005t0070 a0008c0009t0009 a0040c0062t0013 a0005c0005t0070 a0008c0009t0009 a0040c0062t0013	a0005c0005t0070g0147 a0008c0009t0009g0026 a0008c0009t0009g0059 others(4): Show a0005c0005t0070g0147 a0008c0009t0009g0026 a0008c0009t0009g0059 a0008c0009t0009g0148 a0008c0009t0009g0150 a0008c0009t0009g0234 a0040c0062t0013g0074	7	314	0.0223	-20	c.34- others(35): Show c.34-8577_34-8558delATGTATGTATGTATGTATGT	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85631502	TCACACAC others(13): Show TCACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01981.hp1 HG01928.hp2 HG01981.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0046 a0001c0004t0023g0047 a0001c0004t0023g0046 a0001c0004t0023g0047	2	314	0.0064	-20	c.416 others(39): Show c.4162-7840_4162-7821delACACACACACACACACACAC	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85641445	CAAATAAA others(13): Show CAAATAAATAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp1 HG00642.hp1 others(36): Show HG00423.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01433.hp1 HG01884.hp1 HG01993.hp1 HG02004.hp1 HG02486.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02897.hp1 HG03041.hp1 HG03139.hp2 HG03688.hp2 HG03704.hp1 HG04184.hp1 NA18940.hp1 NA18983.hp1 NA19043.hp2 NA19077.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0012 a0014 a0015 a0021 a0024 a0038	a0001c0002 a0002c0001 a0003c0016 others(11): Show a0001c0002 a0002c0001 a0003c0016 a0004c0006 a0005c0005 a0005c0043 a0008c0009 a0009c0011 a0012c0015 a0014c0026 a0015c0049 a0021c0068 a0024c0065 a0038c0044	a0001c0002t0062 a0002c0001t0060 a0003c0016t0003 others(17): Show a0001c0002t0062 a0002c0001t0060 a0003c0016t0003 a0004c0006t0010 a0004c0006t0025 a0004c0006t0067 a0005c0005t0004 a0005c0005t0032 a0005c0005t0070 a0005c0005t0071 a0005c0005t0072 a0005c0043t0004 a0008c0009t0009 a0009c0011t0020 a0012c0015t0017 a0014c0026t0026 a0015c0049t0004 a0021c0068t0081 a0024c0065t0004 a0038c0044t0004	a0001c0002t0062g0311 a0002c0001t0060g0055 a0003c0016t0003g0011 others(36): Show a0001c0002t0062g0311 a0002c0001t0060g0055 a0003c0016t0003g0011 a0004c0006t0010g0246 a0004c0006t0025g0064 a0004c0006t0025g0065 a0004c0006t0067g0067 a0005c0005t0004g0012 a0005c0005t0004g0114 a0005c0005t0004g0115 a0005c0005t0004g0158 a0005c0005t0004g0286 a0005c0005t0004g0287 a0005c0005t0004g0288 a0005c0005t0004g0290 a0005c0005t0004g0293 a0005c0005t0004g0314 a0005c0005t0032g0291 a0005c0005t0070g0147 a0005c0005t0071g0263 a0005c0005t0072g0262 a0005c0043t0004g0300 a0008c0009t0009g0026 a0008c0009t0009g0059 a0008c0009t0009g0075 a0008c0009t0009g0150 a0008c0009t0009g0197 a0008c0009t0009g0231 a0008c0009t0009g0234 a0009c0011t0020g0145 a0009c0011t0020g0146 a0009c0011t0020g0149 a0012c0015t0017g0127 a0014c0026t0026g0108 a0014c0026t0026g0228 a0015c0049t0004g0052 a0021c0068t0081g0205 a0024c0065t0004g0178 a0038c0044t0004g0301	39	314	0.1242	-20	c.423 others(39): Show c.4237+2039_4237+2058delATAAATAAATAAATAAATAA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	9/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP17A_chrX_1586604_1607520	1587663	CTCCCTTC others(13): Show CTCCCTTCCCCTCCTCTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0115 a0001c0001t0014g0115	1	151	0.0066	-20	c.-41 others(31): Show c.-4125_-4106delTCCCTTCCCCTCCTCTCCCT	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		3940		chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1588300	TTCCCTCC others(13): Show TTCCCTCCCCCTCCCCTCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0028 a0002c0002t0002g0028	1	151	0.0066	-20	c.-34 others(31): Show c.-3488_-3469delTCCCTCCCCCTCCCCTCCTC	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		3303		chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1588711	CTCCCCTC others(13): Show CTCCCCTCCCCTCCTTTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG01515.hp1 HG03704.hp2 others(5): Show HG00408.hp1 HG01515.hp1 HG03704.hp2 HG04184.hp2 NA18994.hp1 NA18999.hp2 NA19064.hp2 NA19067.hp1	a0001 a0008 a0011 others(1): Show a0001 a0008 a0011 a0017	a0001c0005 a0008c0009 a0011c0010 others(1): Show a0001c0005 a0008c0009 a0011c0010 a0017c0008	a0001c0005t0001 a0001c0005t0006 a0001c0005t0013 others(3): Show a0001c0005t0001 a0001c0005t0006 a0001c0005t0013 a0008c0009t0001 a0011c0010t0001 a0017c0008t0001	a0001c0005t0001g0039 a0001c0005t0001g0056 a0001c0005t0001g0060 others(5): Show a0001c0005t0001g0039 a0001c0005t0001g0056 a0001c0005t0001g0060 a0001c0005t0006g0062 a0001c0005t0013g0058 a0008c0009t0001g0059 a0011c0010t0001g0057 a0017c0008t0001g0050	8	151	0.0530	-20	c.-30 others(31): Show c.-3077_-3058delTCCCCTCCCCTCCTTTCCCT	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		2892		chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1589100	CTCCCCTC others(13): Show CTCCCCTCCCCTCCTTTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 NA20129.hp1 HG01891.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0004 a0001c0001t0001 a0002c0003t0004	a0001c0001t0001g0041 a0002c0003t0004g0046 a0001c0001t0001g0041 a0002c0003t0004g0046	2	151	0.0133	-20	c.-26 others(31): Show c.-2688_-2669delTCCCCTCCCCTCCTTTCCCT	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		2503		chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1589159	CTTCCCCT others(13): Show CTTCCCCTCCCTTCCCCTCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0021 a0002c0003t0021	a0002c0003t0021g0017 a0002c0003t0021g0017	1	151	0.0066	-20	c.-26 others(31): Show c.-2629_-2610delTTCCCCTCCCTTCCCCTCCA	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		2444		chrX	TogoVar
AKAP3_chr12_4610518_4654051	4624315	ACGTGTGT others(13): Show ACGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0281 a0001c0002t0002g0281	1	418	0.0024	-20	c.240 others(39): Show c.2406+2161_2406+2180delCACACACACACACACACACG	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/5			chr12	TogoVar
AKAP6_chr14_32324298_32842684	32828521	TCTCTCTC others(13): Show TCTCTCTCTCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02886.hp2 NA20129.hp1 HG02572.hp2 HG02886.hp2 NA20129.hp1	a0001 a0025 a0001 a0025	a0001c0001 a0025c0028 a0001c0001 a0025c0028	a0001c0001t0020 a0025c0028t0033 a0001c0001t0020 a0025c0028t0033	a0001c0001t0020g0076 a0001c0001t0020g0130 a0025c0028t0033g0148 a0001c0001t0020g0076 a0001c0001t0020g0130 a0025c0028t0033g0148	3	154	0.0195	-20	c.43 others(37): Show c.43-1325_*43-1306delTCTCTCTCACACACACACAC	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32841552	CATACACA others(13): Show CATACACACATATAAATGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01981.hp1 HG02055.hp1 others(23): Show HG00099.hp2 HG01981.hp1 HG02055.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02630.hp2 HG02735.hp2 HG02809.hp2 HG02895.hp2 HG02922.hp1 HG02970.hp1 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03831.hp2 HG06807.hp2 NA18522.hp1 NA18983.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19240.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0007 a0009 a0013 a0019 a0020 a0022 a0024 a0027	a0001c0001 a0001c0004 a0001c0006 others(15): Show a0001c0001 a0001c0004 a0001c0006 a0001c0010 a0002c0002 a0003c0003 a0003c0005 a0004c0007 a0004c0013 a0004c0024 a0007c0053 a0009c0012 a0013c0054 a0019c0039 a0020c0038 a0022c0036 a0024c0042 a0027c0030	a0001c0001t0001 a0001c0004t0005 a0001c0004t0007 others(21): Show a0001c0001t0001 a0001c0004t0005 a0001c0004t0007 a0001c0004t0050 a0001c0006t0015 a0001c0010t0005 a0002c0002t0024 a0003c0003t0045 a0003c0005t0002 a0003c0005t0011 a0004c0007t0022 a0004c0013t0011 a0004c0013t0014 a0004c0024t0031 a0007c0053t0019 a0009c0012t0037 a0009c0012t0039 a0009c0012t0040 a0013c0054t0006 a0019c0039t0023 a0020c0038t0006 a0022c0036t0044 a0024c0042t0015 a0027c0030t0001	a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0049 others(23): Show a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0004t0005g0121 a0001c0004t0007g0020 a0001c0004t0050g0146 a0001c0006t0015g0135 a0001c0010t0005g0070 a0002c0002t0024g0077 a0003c0003t0045g0107 a0003c0005t0002g0053 a0003c0005t0011g0017 a0004c0007t0022g0022 a0004c0013t0011g0007 a0004c0013t0014g0055 a0004c0024t0031g0113 a0007c0053t0019g0071 a0009c0012t0037g0123 a0009c0012t0039g0136 a0009c0012t0040g0104 a0013c0054t0006g0106 a0019c0039t0023g0142 a0020c0038t0006g0048 a0022c0036t0044g0140 a0024c0042t0015g0151 a0027c0030t0001g0154	26	154	0.1688	-20	c.11 others(33): Show c.11748_*11767delATACACACATATAAATGTGT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding		3869		chr14	TogoVar
AKAP7_chr6_131130467_131288532	131241609	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02922.hp1 HG03139.hp2 others(1): Show HG02451.hp2 HG02922.hp1 HG03139.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0022 a0001c0001t0021 a0001c0001t0022	a0001c0001t0021g0220 a0001c0001t0021g0223 a0001c0001t0022g0085 others(1): Show a0001c0001t0021g0220 a0001c0001t0021g0223 a0001c0001t0022g0085 a0001c0001t0022g0095	4	304	0.0132	-20	c.850 others(39): Show c.850+21803_850+21822delGTGTGTGTGTGTGTGTGTAT	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131247269	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01109.hp2 HG01175.hp2 others(15): Show HG00323.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp2 HG01516.hp1 HG01981.hp2 HG02055.hp1 HG02602.hp1 HG02622.hp2 HG03130.hp1 HG03490.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp1 HG03927.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003	a0002c0002t0001g0027 a0002c0002t0001g0067 a0002c0002t0001g0106 others(15): Show a0002c0002t0001g0027 a0002c0002t0001g0067 a0002c0002t0001g0106 a0002c0002t0001g0109 a0002c0002t0001g0114 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0157 a0002c0002t0001g0159 a0002c0002t0001g0229 a0002c0002t0002g0273 a0002c0002t0002g0288 a0002c0002t0002g0302 a0002c0002t0003g0048 a0002c0002t0003g0050 a0002c0002t0003g0069 a0002c0002t0003g0070 a0002c0002t0003g0119	18	304	0.0592	-20	c.850 others(39): Show c.850+27487_850+27506delATATATATATATATATATAT	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP8_chr19_15348385_15384787	15364057	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	286	0.0035	-20	c.116 others(39): Show c.1161-1826_1161-1807delATTTATTTATTTATTTATTT	AKAP8	ENSG00000105127.10	transcript	ENST00000269701.7	protein_coding	9/13			chr19	TogoVar
AKAP8_chr19_15348385_15384787	15379247	CGCGGTCC others(13): Show CGCGGTCCGCCCGCGGCCCCA	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0060 a0001c0001t0004g0060	1	286	0.0035	-20	c.19+ others(33): Show c.19+446_19+465delTGGGGCCGCGGGCGGACCGC	AKAP8	ENSG00000105127.10	transcript	ENST00000269701.7	protein_coding	1/13			chr19	TogoVar
AKAP9_chr7_91935862_92115673	91963482	TCACACAC others(13): Show TCACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0025 a0025	a0025c0026 a0025c0026	a0025c0026t0001 a0025c0026t0001	a0025c0026t0001g0075 a0025c0026t0001g0075	1	306	0.0033	-20	c.49- others(37): Show c.49-10202_49-10183delCACACACACACACACACACA	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	1/49		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKAP9_chr7_91935862_92115673	91982166	CGTATGTA others(13): Show CGTATGTATGTATGTATGTAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02572.hp1 HG02630.hp2 others(1): Show HG02257.hp1 HG02572.hp1 HG02630.hp2 HG02809.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0287 a0007c0007t0002g0302 a0007c0007t0002g0303 others(1): Show a0007c0007t0002g0287 a0007c0007t0002g0302 a0007c0007t0002g0303 a0007c0007t0002g0304	4	306	0.0131	-20	c.351 others(37): Show c.351+1855_351+1874delTATGTATGTATGTATGTATG	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	3/49		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92070401	GTTGTTTT others(13): Show GTTGTTTTGTTTTGTTTTGTT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp2 HG02809.hp1 HG02572.hp1 HG02630.hp2 HG02809.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0302 a0007c0007t0002g0303 a0007c0007t0002g0304 a0007c0007t0002g0302 a0007c0007t0002g0303 a0007c0007t0002g0304	3	306	0.0098	-20	c.650 others(37): Show c.6507+223_6507+242delGTTTTGTTTTGTTTTGTTTT	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	27/49		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKIRIN1_chr1_38986276_39011059	38987489	CTTATTTA others(13): Show CTTATTTATTTATTTATTTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00597.hp1 others(42): Show HG00099.hp1 HG00099.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01515.hp1 HG01517.hp1 HG01981.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02135.hp1 HG02683.hp2 HG02738.hp2 HG03017.hp2 HG03540.hp2 HG03710.hp1 HG04115.hp2 NA18944.hp2 NA18945.hp1 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18971.hp1 NA18975.hp1 NA18993.hp1 NA18995.hp2 NA19056.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 others(1): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0001c0001t0026	a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0003g0016 others(14): Show a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0003g0016 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0009g0001 a0001c0001t0009g0008 a0001c0001t0009g0042 a0001c0001t0009g0067 a0001c0001t0009g0077 a0001c0001t0015g0068 a0001c0001t0015g0069 a0001c0001t0026g0076	45	426	0.1056	-20	c.-38 others(31): Show c.-3891_-3872delTTATTTATTTATTTATTTAT	AKIRIN1	ENSG00000174574.16	transcript	ENST00000432648.8	protein_coding		3786		chr1	TogoVar
AKR1B15_chr7_134544110_134584869	134562832	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG01243.hp2 others(31): Show HG00280.hp1 HG00639.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01496.hp2 HG01891.hp1 HG02145.hp2 HG02451.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03927.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0059 others(16): Show a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0172 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0003g0023 a0001c0001t0003g0034 a0001c0002t0001g0020 a0001c0002t0001g0056 a0001c0002t0001g0191 a0001c0002t0001g0196 a0001c0002t0001g0219	34	404	0.0842	-20	c.-22 others(37): Show c.-22-1727_-22-1708delTTTCTTTCTTTCTTTCTTTC	AKR1B15	ENSG00000227471.9	transcript	ENST00000457545.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKR1C3_chr10_5089414_5112686	5110431	AAAGTAAA others(13): Show AAAGTAAAGAGTTAGACTCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG00738.hp1 others(33): Show HG00323.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01261.hp2 HG01515.hp1 HG01928.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02970.hp2 HG03130.hp1 HG03490.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp1 NA19030.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0008 a0002c0003 a0002c0008	a0002c0003t0002 a0002c0003t0003 a0002c0008t0002 a0002c0003t0002 a0002c0003t0003 a0002c0008t0002	a0002c0003t0002g0006 a0002c0003t0002g0014 a0002c0003t0002g0040 others(7): Show a0002c0003t0002g0006 a0002c0003t0002g0014 a0002c0003t0002g0040 a0002c0003t0002g0125 a0002c0003t0003g0030 a0002c0003t0003g0124 a0002c0008t0002g0017 a0002c0008t0002g0128 a0002c0008t0002g0129 a0002c0008t0002g0130	36	438	0.0822	-20	c.29 others(31): Show c.2929_*2948delAAGTAAAGAGTTAGACTCTT	AKR1C3	ENSG00000196139.14	transcript	ENST00000380554.5	protein_coding		2746		chr10	TogoVar
AKR1D1_chr7_138071459_138123305	138100088	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp2 HG02809.hp1 others(3): Show HG02258.hp1 HG02615.hp2 HG02809.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0035 a0001c0001t0063 a0001c0001t0020 a0001c0001t0035 a0001c0001t0063	a0001c0001t0020g0316 a0001c0001t0020g0317 a0001c0001t0020g0318 others(3): Show a0001c0001t0020g0316 a0001c0001t0020g0317 a0001c0001t0020g0318 a0001c0001t0035g0213 a0001c0001t0035g0348 a0001c0001t0063g0260	6	426	0.0141	-20	c.456 others(37): Show c.456+2156_456+2175delAAAAAAAAAAAAAAAAAAAA	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKR1D1_chr7_138071459_138123305	138101175	CCCTCCCT others(13): Show CCCTCCCTCCCTCCCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(207): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19002.hp1 NA19004.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0001c0002 a0003c0007 others(2): Show a0001c0001 a0001c0002 a0003c0007 a0005c0009 a0006c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(29): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0058 a0001c0001t0059 a0001c0001t0067 a0001c0002t0006 a0001c0002t0028 a0003c0007t0001 a0005c0009t0001 a0006c0005t0056	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(177): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0075 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0196 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0261 a0001c0001t0001g0270 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0309 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0352 a0001c0001t0001g0359 a0001c0001t0003g0073 a0001c0001t0003g0122 a0001c0001t0003g0339 a0001c0001t0005g0002 a0001c0001t0005g0008 a0001c0001t0005g0134 a0001c0001t0005g0225 a0001c0001t0005g0230 a0001c0001t0005g0235 a0001c0001t0005g0243 a0001c0001t0005g0259 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0005g0273 a0001c0001t0005g0274 a0001c0001t0005g0275 a0001c0001t0006g0027 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0251 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0271 a0001c0001t0006g0288 a0001c0001t0007g0001 a0001c0001t0007g0003 a0001c0001t0007g0058 a0001c0001t0007g0110 a0001c0001t0007g0228 a0001c0001t0007g0247 a0001c0001t0007g0306 a0001c0001t0007g0307 a0001c0001t0008g0011 a0001c0001t0009g0014 a0001c0001t0009g0015 a0001c0001t0009g0040 a0001c0001t0009g0042 a0001c0001t0009g0043 a0001c0001t0009g0044 a0001c0001t0010g0036 a0001c0001t0010g0038 a0001c0001t0010g0160 a0001c0001t0010g0218 a0001c0001t0010g0246 a0001c0001t0010g0252 a0001c0001t0010g0300 a0001c0001t0010g0301 a0001c0001t0012g0262 a0001c0001t0012g0268 a0001c0001t0014g0329 a0001c0001t0014g0336 a0001c0001t0018g0028 a0001c0001t0018g0222 a0001c0001t0018g0289 a0001c0001t0019g0066 a0001c0001t0019g0076 a0001c0001t0019g0082 a0001c0001t0024g0172 a0001c0001t0029g0253 a0001c0001t0029g0312 a0001c0001t0032g0013 a0001c0001t0033g0007 a0001c0001t0033g0012 a0001c0001t0034g0007 a0001c0001t0034g0282 a0001c0001t0043g0041 a0001c0001t0044g0039 a0001c0001t0045g0045 a0001c0001t0046g0308 a0001c0001t0050g0029 a0001c0001t0051g0002 a0001c0001t0053g0111 a0001c0001t0058g0223 a0001c0001t0059g0036 a0001c0001t0067g0244 a0001c0002t0006g0255 a0001c0002t0028g0217 a0001c0002t0028g0248 a0003c0007t0001g0126 a0005c0009t0001g0156 a0006c0005t0056g0008	210	426	0.4930	-20	c.456 others(37): Show c.456+3236_456+3255delCCCTCCCTCCCTCCCTTCCT	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKR1D1_chr7_138071459_138123305	138101179	CCCTCCCT others(13): Show CCCTCCCTCCCTCCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0272 a0001c0001t0047g0272	1	426	0.0024	-20	c.456 others(37): Show c.456+3240_456+3259delCCCTCCCTCCCTTCCTTCCT	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKR1D1_chr7_138071459_138123305	138101183	CCCTCCCT others(13): Show CCCTCCCTCCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02809.hp2 HG03209.hp1 others(2): Show HG00673.hp1 HG02809.hp2 HG03209.hp1 HG03516.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0030 a0001c0001t0001 a0001c0001t0017 a0001c0001t0030	a0001c0001t0001g0277 a0001c0001t0017g0342 a0001c0001t0017g0343 others(2): Show a0001c0001t0001g0277 a0001c0001t0017g0342 a0001c0001t0017g0343 a0001c0001t0017g0344 a0001c0001t0030g0105	5	426	0.0117	-20	c.456 others(37): Show c.456+3244_456+3263delCCCTCCCTTCCTTCCTTCCT	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKR1D1_chr7_138071459_138123305	138117576	CTTATATG others(13): Show CTTATATGAATTTTGAGAATT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0272 a0001c0001t0047g0272	1	426	0.0024	-20	c.93 others(29): Show c.933_*952delTTTTATATGAATTTTGAGAA	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	9/9	933	INFO_REALIGN_3_PRIME	chr7	TogoVar
AKT2_chr19_40225317_40290345	40276345	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0302 a0001c0001t0003g0302	1	360	0.0028	-20	c.-85 others(37): Show c.-85+8816_-85+8835delAAAAAAAAAAAAAAAAAAAA	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding	1/13			chr19	TogoVar
AKT3_chr1_243494724_243855243	243527918	CACACACA others(13): Show CACACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01496.hp2 HG02559.hp1 others(2): Show HG00733.hp1 HG01496.hp2 HG02559.hp1 HG02723.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0047	a0001c0001t0003g0056 a0001c0001t0003g0205 a0001c0001t0004g0019 others(2): Show a0001c0001t0003g0056 a0001c0001t0003g0205 a0001c0001t0004g0019 a0001c0001t0007g0280 a0001c0001t0047g0139	5	301	0.0166	-20	c.125 others(41): Show c.1252-15512_1252-15493delCTGTGTGTGTGTGTGTGTGT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243527920	CACACACA others(13): Show CACACACACACACACACAGAG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0278 a0001c0001t0046g0278	1	301	0.0033	-20	c.125 others(41): Show c.1252-15514_1252-15495delCTCTGTGTGTGTGTGTGTGT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243664185	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	301	0.0033	-20	c.284 others(35): Show c.284+567_284+586delAAAAAAAAAAAAAAAAAAAA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	4/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243693243	GATATATA others(13): Show GATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18906.hp1 HG00544.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0021 a0001c0001t0013 a0001c0001t0021	a0001c0001t0013g0007 a0001c0001t0021g0283 a0001c0001t0013g0007 a0001c0001t0021g0283	2	301	0.0066	-20	c.172 others(37): Show c.172+2328_172+2347delATATATATATATATATATAT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243699465	CTATATAT others(13): Show CTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01496.hp1 HG01975.hp2 others(13): Show HG01109.hp2 HG01496.hp1 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02071.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp2 HG03490.hp1 HG04115.hp2 HG04228.hp1 NA18983.hp1 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0039 a0001c0001t0001 a0001c0001t0011 a0001c0001t0039	a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0149 others(13): Show a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0011g0235 a0001c0001t0039g0270	16	301	0.0532	-20	c.47- others(35): Show c.47-3769_47-3750delTATATATATATATATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243853217	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19065.hp1 NA19000.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0013 a0001c0001t0008 a0001c0001t0013	a0001c0001t0008g0171 a0001c0001t0013g0011 a0001c0001t0008g0171 a0001c0001t0013g0011	2	301	0.0066	-20	c.-33 others(31): Show c.-3310_-3291delAAAAAAAAAAAAAAAAAAAA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding		2975		chr1	TogoVar
ALAS1_chr3_52193160_52219327	52193983	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00741.hp2 others(13): Show HG00621.hp1 HG00621.hp2 HG00741.hp2 HG01069.hp2 HG01243.hp1 HG02523.hp2 HG02622.hp2 HG03130.hp2 HG03239.hp2 HG03516.hp1 HG03579.hp1 NA18970.hp2 NA18972.hp1 NA19007.hp1 NA19058.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 a0001c0001t0001 a0001c0002t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0026 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0026 a0001c0001t0001g0045 a0001c0002t0001g0002 a0001c0002t0001g0032 a0001c0002t0001g0080 a0002c0004t0001g0071	16	354	0.0452	-20	c.-44 others(31): Show c.-4481_-4462delAAAGAAAGAAAGAAAGAAAG	ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding		4176		chr3	TogoVar
ALAS1_chr3_52193160_52219327	52194039	GAAAGAAA others(13): Show GAAAGAAAGAAAGAAAGAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG02630.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	354	0.0057	-20	c.-44 others(31): Show c.-4425_-4406delAAAGAAAGAAAGAAAGAAAA	ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding		4120		chr3	TogoVar
ALAS2_chrX_55004055_55035977	55015959	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	284	0.0035	-20	c.100 others(37): Show c.1004-237_1004-218delCACACACACACACACACACA	ALAS2	ENSG00000158578.21	transcript	ENST00000650242.1	protein_coding	7/10			chrX	TogoVar
ALCAM_chr3_105361909_105581900	105537136	ACCAGTCC others(13): Show ACCAGTCCACTCCTTTCTTAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(34): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00741.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG02055.hp2 HG02258.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03831.hp2 NA18906.hp1 NA18939.hp1 NA18954.hp1 NA18959.hp1 NA18990.hp2 NA19000.hp1 NA19065.hp1 NA19089.hp1 NA19090.hp2 NA20752.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0013 a0001c0001 a0001c0002 a0007c0013	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0009 a0001c0002t0019 a0007c0013t0001	a0001c0001t0001g0278 a0001c0002t0001g0018 a0001c0002t0001g0051 others(34): Show a0001c0001t0001g0278 a0001c0002t0001g0018 a0001c0002t0001g0051 a0001c0002t0001g0066 a0001c0002t0001g0071 a0001c0002t0001g0082 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0130 a0001c0002t0001g0151 a0001c0002t0001g0186 a0001c0002t0001g0189 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0218 a0001c0002t0001g0231 a0001c0002t0001g0233 a0001c0002t0001g0239 a0001c0002t0001g0262 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0296 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0308 a0001c0002t0003g0026 a0001c0002t0003g0093 a0001c0002t0003g0313 a0001c0002t0003g0318 a0001c0002t0007g0164 a0001c0002t0009g0176 a0001c0002t0009g0178 a0001c0002t0009g0188 a0001c0002t0019g0261 a0007c0013t0001g0303	37	378	0.0979	-20	c.730 others(37): Show c.730+2294_730+2313delAGTCCACTCCTTTCTTACCC	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALDH16A1_chr19_49448225_49476050	49453203	GTAGCCCC others(13): Show GTAGCCCCACCCCATTCCCAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(123): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01433.hp2 HG01496.hp1 HG01517.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02559.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18941.hp2 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18957.hp2 NA18959.hp1 NA18964.hp2 NA18969.hp1 NA18971.hp2 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18990.hp1 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19067.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0007 a0011 a0012 a0014 a0015 a0016	a0001c0001 a0001c0005 a0001c0009 others(9): Show a0001c0001 a0001c0005 a0001c0009 a0002c0002 a0002c0006 a0003c0004 a0007c0018 a0011c0024 a0012c0025 a0014c0030 a0015c0020 a0016c0019	a0001c0001t0001 a0001c0001t0004 a0001c0005t0002 others(17): Show a0001c0001t0001 a0001c0001t0004 a0001c0005t0002 a0001c0009t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0010 a0002c0006t0001 a0002c0006t0002 a0002c0006t0005 a0003c0004t0002 a0007c0018t0002 a0011c0024t0004 a0012c0025t0001 a0014c0030t0002 a0015c0020t0003 a0016c0019t0002	a0001c0001t0001g0036 a0001c0001t0001g0132 a0001c0001t0001g0196 others(107): Show a0001c0001t0001g0036 a0001c0001t0001g0132 a0001c0001t0001g0196 a0001c0001t0004g0014 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0131 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0219 a0001c0005t0002g0040 a0001c0005t0002g0145 a0001c0005t0002g0146 a0001c0005t0002g0151 a0001c0005t0002g0152 a0001c0005t0002g0211 a0001c0009t0002g0034 a0001c0009t0002g0165 a0001c0009t0002g0195 a0002c0002t0001g0035 a0002c0002t0001g0147 a0002c0002t0001g0150 a0002c0002t0001g0157 a0002c0002t0001g0171 a0002c0002t0001g0181 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0210 a0002c0002t0001g0213 a0002c0002t0001g0217 a0002c0002t0002g0016 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0040 a0002c0002t0002g0133 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0148 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0172 a0002c0002t0002g0174 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0180 a0002c0002t0002g0182 a0002c0002t0002g0186 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0197 a0002c0002t0002g0209 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0218 a0002c0002t0002g0229 a0002c0002t0003g0015 a0002c0002t0003g0192 a0002c0002t0006g0031 a0002c0002t0006g0149 a0002c0002t0007g0166 a0002c0002t0007g0173 a0002c0002t0010g0179 a0002c0002t0010g0203 a0002c0006t0001g0153 a0002c0006t0001g0212 a0002c0006t0002g0028 a0002c0006t0002g0155 a0002c0006t0002g0156 a0002c0006t0005g0202 a0003c0004t0002g0224 a0007c0018t0002g0154 a0011c0024t0004g0039 a0012c0025t0001g0142 a0014c0030t0002g0185 a0015c0020t0003g0015 a0016c0019t0002g0175	126	342	0.3684	-20	c.-12 others(29): Show c.-128_-109delTAGCCCCACCCCATTCCCAT	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding		21		chr19	TogoVar
ALDH1L2_chr12_105014790_105089458	105036514	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01243.hp1 HG01256.hp2 others(18): Show HG00280.hp2 HG01243.hp1 HG01256.hp2 HG01517.hp2 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02486.hp1 HG02717.hp1 HG02886.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG06807.hp2 NA18522.hp1 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 others(1): Show a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0010t0007	a0001c0002t0007g0001 a0001c0002t0007g0053 a0001c0002t0007g0054 others(17): Show a0001c0002t0007g0001 a0001c0002t0007g0053 a0001c0002t0007g0054 a0001c0002t0007g0055 a0001c0002t0007g0065 a0001c0002t0007g0066 a0001c0002t0007g0067 a0001c0002t0009g0015 a0001c0002t0009g0019 a0001c0002t0009g0048 a0001c0002t0009g0056 a0001c0002t0009g0058 a0001c0002t0009g0060 a0001c0002t0009g0061 a0001c0002t0009g0252 a0001c0002t0010g0181 a0001c0002t0010g0196 a0001c0002t0010g0279 a0001c0010t0007g0047 a0001c0010t0007g0049	21	386	0.0544	-20	c.214 others(39): Show c.2145+1569_2145+1588delTATATATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105046177	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18940.hp1 HG00544.hp2 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0248 a0001c0001t0005g0249	2	386	0.0052	-20	c.186 others(37): Show c.1863+513_1863+532delTATAGAGAGAGAGAGAGAGA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105046179	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTATATA	C C	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18951.hp2 NA18962.hp1 others(2): Show NA18942.hp2 NA18951.hp2 NA18962.hp1 NA18972.hp2 NA18977.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0014 a0001c0001 a0007c0014	a0001c0001t0005 a0007c0014t0005 a0001c0001t0005 a0007c0014t0005	a0001c0001t0005g0108 a0001c0001t0005g0168 a0001c0001t0005g0317 others(2): Show a0001c0001t0005g0108 a0001c0001t0005g0168 a0001c0001t0005g0317 a0001c0001t0005g0331 a0007c0014t0005g0245	5	386	0.0130	-20	c.186 others(37): Show c.1863+511_1863+530delTATATAGAGAGAGAGAGAGA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105046181	CTCTCTCT others(13): Show CTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02040.hp1 NA19005.hp1 others(2): Show HG02027.hp2 HG02040.hp1 NA19005.hp1 NA19006.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0153 a0001c0001t0005g0244 a0001c0001t0005g0318 others(2): Show a0001c0001t0005g0153 a0001c0001t0005g0244 a0001c0001t0005g0318 a0001c0001t0005g0321 a0001c0001t0005g0326	5	386	0.0130	-20	c.186 others(37): Show c.1863+509_1863+528delTATATATAGAGAGAGAGAGA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105046183	CTCTCTCT others(13): Show CTCTCTCTCTCTATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0247 a0001c0001t0005g0247	1	386	0.0026	-20	c.186 others(37): Show c.1863+507_1863+526delTATATATATAGAGAGAGAGA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105073408	AAAGGGGG others(13): Show AAAGGGGGTCCTGACCCTGGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00423.hp2 others(188): Show HG00140.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18953.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0008 a0010	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0013 a0001c0016 a0002c0004 a0003c0005 a0005c0012 a0006c0009 a0008c0017 a0010c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(36): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0002t0002 a0001c0002t0009 a0001c0002t0010 a0001c0002t0016 a0001c0002t0021 a0001c0002t0033 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0003t0006 a0001c0006t0003 a0001c0006t0005 a0001c0007t0001 a0001c0013t0002 a0001c0016t0001 a0002c0004t0002 a0003c0005t0003 a0003c0005t0022 a0005c0012t0006 a0005c0012t0014 a0006c0009t0001 a0008c0017t0001 a0010c0018t0028	a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0102 others(188): Show a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0131 a0001c0001t0001g0145 a0001c0001t0001g0161 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0097 a0001c0001t0003g0101 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0110 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0141 a0001c0001t0003g0167 a0001c0001t0003g0182 a0001c0001t0003g0194 a0001c0001t0003g0203 a0001c0001t0003g0306 a0001c0001t0003g0310 a0001c0001t0003g0347 a0001c0001t0003g0381 a0001c0001t0004g0109 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0177 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0379 a0001c0001t0004g0383 a0001c0001t0005g0108 a0001c0001t0005g0153 a0001c0001t0005g0168 a0001c0001t0005g0225 a0001c0001t0006g0150 a0001c0001t0006g0160 a0001c0001t0006g0169 a0001c0001t0006g0175 a0001c0001t0006g0217 a0001c0001t0006g0334 a0001c0001t0006g0335 a0001c0001t0006g0342 a0001c0001t0006g0343 a0001c0001t0006g0344 a0001c0001t0006g0345 a0001c0001t0006g0353 a0001c0001t0006g0354 a0001c0001t0006g0372 a0001c0001t0006g0375 a0001c0001t0008g0227 a0001c0001t0011g0111 a0001c0001t0011g0137 a0001c0001t0011g0165 a0001c0001t0012g0339 a0001c0001t0014g0082 a0001c0001t0014g0143 a0001c0001t0018g0216 a0001c0001t0019g0089 a0001c0001t0020g0100 a0001c0001t0020g0144 a0001c0001t0023g0120 a0001c0001t0024g0371 a0001c0001t0029g0152 a0001c0001t0030g0103 a0001c0002t0002g0085 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0098 a0001c0002t0002g0113 a0001c0002t0002g0118 a0001c0002t0002g0126 a0001c0002t0002g0130 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0151 a0001c0002t0002g0155 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0162 a0001c0002t0002g0164 a0001c0002t0002g0166 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0176 a0001c0002t0002g0178 a0001c0002t0002g0180 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0220 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0305 a0001c0002t0002g0336 a0001c0002t0002g0346 a0001c0002t0002g0373 a0001c0002t0009g0095 a0001c0002t0010g0084 a0001c0002t0010g0181 a0001c0002t0010g0196 a0001c0002t0010g0352 a0001c0002t0016g0125 a0001c0002t0021g0370 a0001c0002t0021g0374 a0001c0002t0033g0191 a0001c0002t0035g0198 a0001c0002t0036g0154 a0001c0002t0037g0190 a0001c0003t0006g0376 a0001c0003t0006g0377 a0001c0003t0006g0378 a0001c0003t0006g0380 a0001c0003t0006g0382 a0001c0003t0006g0384 a0001c0006t0003g0099 a0001c0006t0003g0146 a0001c0006t0005g0134 a0001c0006t0005g0135 a0001c0007t0001g0088 a0001c0007t0001g0129 a0001c0007t0001g0142 a0001c0013t0002g0094 a0001c0013t0002g0140 a0001c0016t0001g0124 a0002c0004t0002g0163 a0002c0004t0002g0206 a0002c0004t0002g0230 a0002c0004t0002g0315 a0003c0005t0003g0096 a0003c0005t0003g0136 a0003c0005t0003g0307 a0003c0005t0022g0308 a0005c0012t0006g0171 a0005c0012t0014g0170 a0006c0009t0001g0231 a0006c0009t0001g0232 a0008c0017t0001g0149 a0010c0018t0028g0075	191	386	0.4948	-20	c.193 others(35): Show c.193+433_193+452delCCCAGGGTCAGGACCCCCTT	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH3B1_chr11_68005327_68034276	68016595	GCCTGCCC others(13): Show GCCTGCCCCTGCCTCAGGACA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0108 a0001c0002t0023g0108	1	374	0.0027	-20	c.162 others(37): Show c.162+1159_162+1178delTGCCCCTGCCTCAGGACACC	ALDH3B1	ENSG00000006534.17	transcript	ENST00000342456.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ALDH5A1_chr6_24489969_24542207	24501935	GTGTGTAT others(13): Show GTGTGTATATATATATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG04184.hp2 NA18959.hp1 others(1): Show HG03239.hp1 HG04184.hp2 NA18959.hp1 NA18982.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0056 others(1): Show a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057	4	368	0.0109	-20	c.355 others(35): Show c.355-582_355-563delATATATATATGTGTATGTGT	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24526953	AATATATA others(13): Show AATATATATATATGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	368	0.0027	-20	c.117 others(39): Show c.1174-1043_1174-1024delATATATATATATGTGTGTGT	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	7/9			chr6	TogoVar
ALDH7A1_chr5_126536841_126600219	126578979	AGCCTCTT others(13): Show AGCCTCTTCCTGGCAGGGCCT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01106.hp1 HG01123.hp1 others(27): Show HG01069.hp2 HG01106.hp1 HG01123.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03669.hp2 HG03710.hp1 NA18522.hp2 NA18944.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0051 a0002c0002t0001 a0002c0002t0004	a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0287 others(27): Show a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0372 a0001c0001t0002g0281 a0001c0001t0002g0369 a0001c0001t0003g0375 a0001c0001t0004g0040 a0001c0001t0004g0131 a0001c0001t0004g0264 a0001c0001t0004g0279 a0001c0001t0004g0373 a0001c0001t0005g0370 a0001c0001t0006g0004 a0001c0001t0006g0007 a0001c0001t0006g0109 a0001c0001t0006g0283 a0001c0001t0006g0286 a0001c0001t0006g0371 a0001c0001t0007g0110 a0001c0001t0009g0366 a0001c0001t0012g0368 a0001c0001t0013g0285 a0001c0001t0014g0282 a0001c0001t0019g0280 a0001c0001t0021g0111 a0001c0001t0022g0367 a0001c0001t0051g0277 a0002c0002t0001g0359 a0002c0002t0004g0374	30	380	0.0790	-20	c.518 others(37): Show c.518-1788_518-1769delAGGCCCTGCCAGGAAGAGGC	ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	5/17			chr5	TogoVar

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