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
AKIRIN1_chr1_38986276_39011059	38994672	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG03831.hp2 HG03942.hp2 HG02027.hp2 HG03831.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0150 a0001c0001t0001g0202 a0001c0001t0001g0203	3	426	0.0070	22	c.220 others(39): Show c.220+3085_220+3106dupTTTTTTTTTTTTTTTTTTTTTT	AKIRIN1	ENSG00000174574.16	transcript	ENST00000432648.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AKIRIN2_chr6_87669860_87707233	87676596	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01934.hp1 HG02132.hp1 others(4): Show HG01074.hp2 HG01934.hp1 HG02132.hp1 HG02738.hp2 HG03710.hp1 NA19009.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0042 a0001c0001t0004 a0001c0001t0010 a0001c0001t0042	a0001c0001t0004g0025 a0001c0001t0004g0316 a0001c0001t0004g0329 others(3): Show a0001c0001t0004g0025 a0001c0001t0004g0316 a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0010g0092 a0001c0001t0042g0336	7	406	0.0172	22	c.530 others(37): Show c.530-687_530-666dupGTGTGTGTGTGTGTGTGTGTGT	AKIRIN2	ENSG00000135334.9	transcript	ENST00000257787.6	protein_coding	3/4			chr6	TogoVar
AKIRIN2_chr6_87669860_87707233	87676596	A A	AACACACG others(15): Show AACACACGCACGCGCGCACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02965.hp2 HG03579.hp2 HG02258.hp1 HG02965.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0050 a0001c0002t0007g0051 a0001c0002t0007g0052 a0001c0002t0007g0050 a0001c0002t0007g0051 a0001c0002t0007g0052	3	406	0.0074	22	c.530 others(37): Show c.530-666_530-665insGTGTGTGCGCGCGTGCGTGTGT	AKIRIN2	ENSG00000135334.9	transcript	ENST00000257787.6	protein_coding	3/4			chr6	TogoVar
AKIRIN2_chr6_87669860_87707233	87676596	A A	AACACACG others(15): Show AACACACGCACGCGCGCGCACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG03486.hp2 others(1): Show HG02630.hp1 HG02886.hp1 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0047 a0001c0002t0006g0048 a0001c0002t0006g0049 others(1): Show a0001c0002t0006g0047 a0001c0002t0006g0048 a0001c0002t0006g0049 a0001c0002t0006g0058	4	406	0.0099	22	c.530 others(37): Show c.530-666_530-665insGTGTGCGCGCGCGTGCGTGTGT	AKIRIN2	ENSG00000135334.9	transcript	ENST00000257787.6	protein_coding	3/4			chr6	TogoVar
AKNAD1_chr1_108810901_108862094	108839471	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAGAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	398	0.0025	22	c.138 others(41): Show c.1380-1766_1380-1765insTTTTTTTTTCTTTTTTTTTTTT	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	6/15			chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108839471	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAGAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(96): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00621.hp1 HG00642.hp1 HG00733.hp2 HG00738.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01516.hp2 HG01517.hp2 HG01952.hp2 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02129.hp1 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02602.hp1 HG02615.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03453.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18986.hp2 NA18989.hp1 NA18992.hp1 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19007.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19065.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp1 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0011 a0013 a0015 a0016 a0017 a0020 a0021 a0022 a0023 a0024 a0025 a0027 a0028 a0029 a0030	a0001c0001 a0001c0007 a0001c0011 others(33): Show a0001c0001 a0001c0007 a0001c0011 a0002c0002 a0002c0005 a0002c0015 a0002c0024 a0003c0009 a0003c0012 a0003c0013 a0003c0016 a0003c0056 a0003c0057 a0004c0065 a0005c0033 a0006c0037 a0007c0014 a0007c0021 a0007c0039 a0010c0048 a0010c0049 a0011c0026 a0013c0019 a0015c0034 a0016c0025 a0017c0032 a0020c0053 a0021c0067 a0022c0042 a0023c0045 a0024c0047 a0025c0066 a0027c0058 a0028c0059 a0029c0063 a0030c0064	a0001c0001t0001 a0001c0007t0001 a0001c0011t0001 others(36): Show a0001c0001t0001 a0001c0007t0001 a0001c0011t0001 a0001c0011t0002 a0002c0002t0001 a0002c0005t0001 a0002c0015t0001 a0002c0015t0002 a0002c0024t0006 a0003c0009t0001 a0003c0012t0003 a0003c0012t0004 a0003c0013t0001 a0003c0016t0001 a0003c0056t0010 a0003c0057t0006 a0004c0065t0001 a0005c0033t0002 a0006c0037t0001 a0007c0014t0001 a0007c0021t0005 a0007c0039t0003 a0010c0048t0001 a0010c0049t0002 a0011c0026t0004 a0013c0019t0002 a0015c0034t0007 a0016c0025t0004 a0017c0032t0003 a0020c0053t0001 a0021c0067t0001 a0022c0042t0003 a0023c0045t0002 a0024c0047t0001 a0025c0066t0002 a0027c0058t0004 a0028c0059t0004 a0029c0063t0009 a0030c0064t0001	a0001c0001t0001g0193 a0001c0001t0001g0262 a0001c0001t0001g0282 others(83): Show a0001c0001t0001g0193 a0001c0001t0001g0262 a0001c0001t0001g0282 a0001c0007t0001g0008 a0001c0007t0001g0030 a0001c0007t0001g0313 a0001c0007t0001g0314 a0001c0007t0001g0315 a0001c0007t0001g0318 a0001c0007t0001g0319 a0001c0007t0001g0321 a0001c0007t0001g0348 a0001c0007t0001g0349 a0001c0011t0001g0307 a0001c0011t0002g0003 a0001c0011t0002g0311 a0001c0011t0002g0312 a0002c0002t0001g0165 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0326 a0002c0002t0001g0336 a0002c0005t0001g0194 a0002c0005t0001g0274 a0002c0015t0001g0317 a0002c0015t0002g0031 a0002c0015t0002g0309 a0002c0015t0002g0310 a0002c0015t0002g0316 a0002c0024t0006g0054 a0003c0009t0001g0156 a0003c0009t0001g0169 a0003c0009t0001g0201 a0003c0009t0001g0261 a0003c0009t0001g0276 a0003c0009t0001g0283 a0003c0009t0001g0291 a0003c0009t0001g0292 a0003c0009t0001g0293 a0003c0009t0001g0294 a0003c0012t0003g0011 a0003c0012t0003g0012 a0003c0012t0003g0065 a0003c0012t0003g0072 a0003c0012t0004g0064 a0003c0013t0001g0278 a0003c0013t0001g0280 a0003c0016t0001g0303 a0003c0016t0001g0304 a0003c0016t0001g0306 a0003c0056t0010g0049 a0003c0057t0006g0048 a0004c0065t0001g0347 a0005c0033t0002g0029 a0006c0037t0001g0328 a0007c0014t0001g0009 a0007c0014t0001g0032 a0007c0014t0001g0329 a0007c0021t0005g0034 a0007c0021t0005g0035 a0007c0021t0005g0036 a0007c0039t0003g0045 a0007c0039t0003g0046 a0010c0048t0001g0158 a0010c0049t0002g0281 a0011c0026t0004g0089 a0013c0019t0002g0168 a0013c0019t0002g0170 a0013c0019t0002g0171 a0013c0019t0002g0190 a0015c0034t0007g0043 a0015c0034t0007g0044 a0016c0025t0004g0079 a0016c0025t0004g0080 a0016c0025t0004g0085 a0017c0032t0003g0059 a0020c0053t0001g0296 a0021c0067t0001g0350 a0022c0042t0003g0074 a0023c0045t0002g0287 a0024c0047t0001g0279 a0025c0066t0002g0305 a0027c0058t0004g0062 a0028c0059t0004g0060 a0029c0063t0009g0042 a0030c0064t0001g0299	99	398	0.2487	22	c.138 others(41): Show c.1380-1766_1380-1765insTTTTTTTTTTCTTTTTTTTTTT	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	6/15			chr1	TogoVar
AKNA_chr9_114329156_114392982	114380981	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0001 a0002c0031t0001	a0002c0031t0001g0223 a0002c0031t0001g0223	1	388	0.0026	22	c.274 others(35): Show c.274+78_274+79insTTTTTTTTTTTTTTTTTTTTTT	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	2/21			chr9	TogoVar
AKNA_chr9_114329156_114392982	114380981	C C	CAGAAAAA others(15): Show CAGAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03209.hp1 HG02630.hp1 HG03209.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0023 a0005c0005t0023	a0005c0005t0023g0102 a0005c0005t0023g0103 a0005c0005t0023g0102 a0005c0005t0023g0103	2	388	0.0052	22	c.274 others(35): Show c.274+78_274+79insTTTTTTTTTTTTTTTTTTTTCT	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	2/21			chr9	TogoVar
AKR1B10_chr7_134522567_134546412	134545611	C C	CCTTGGTA others(15): Show CCTTGGTATTCTCACTGCCTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	448	0.0022	22	c.45 others(33): Show c.4522_*4523insCTTGGTATTCTCACTGCCTGGG	AKR1B10	ENSG00000198074.10	transcript	ENST00000359579.5	protein_coding		4200		chr7	TogoVar
AKR1C3_chr10_5089414_5112686	5108343	T T	TATGTGTA others(15): Show TATGTGTACATATGTATGTGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00621.hp2 others(89): Show HG00408.hp2 HG00438.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01074.hp1 HG01081.hp2 HG01358.hp1 HG01358.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02015.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03195.hp1 HG03516.hp2 HG03579.hp2 HG03834.hp1 HG04115.hp1 NA18612.hp2 NA18939.hp2 NA18942.hp1 NA18946.hp2 NA18948.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp1 NA18961.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19011.hp1 NA19054.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp2 NA19072.hp1 NA19074.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA20752.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0006 a0009	a0001c0001 a0003c0004 a0005c0007 others(2): Show a0001c0001 a0003c0004 a0005c0007 a0006c0009 a0009c0012	a0001c0001t0001 a0003c0004t0001 a0005c0007t0002 others(2): Show a0001c0001t0001 a0003c0004t0001 a0005c0007t0002 a0006c0009t0001 a0009c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0003c0004t0001g0004 a0003c0004t0001g0021 a0003c0004t0001g0101 a0003c0004t0001g0113 a0005c0007t0002g0015 a0006c0009t0001g0001 a0009c0012t0001g0004	92	438	0.2101	22	c.84 others(31): Show c.840_*841insATGTGTACATATGTATGTGTGC	AKR1C3	ENSG00000196139.14	transcript	ENST00000380554.5	protein_coding		658		chr10	TogoVar
AKR1C3_chr10_5089414_5112686	5108343	T T	TATGTGTA others(15): Show TATGTGTACATGTGTATGTGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	438	0.0023	22	c.84 others(31): Show c.840_*841insATGTGTACATGTGTATGTGTGC	AKR1C3	ENSG00000196139.14	transcript	ENST00000380554.5	protein_coding		658		chr10	TogoVar
AKR1C3_chr10_5089414_5112686	5108343	T T	TATGTGTA others(15): Show TATGTGTATATATGTATGTGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	438	0.0023	22	c.84 others(31): Show c.840_*841insATGTGTATATATGTATGTGTGC	AKR1C3	ENSG00000196139.14	transcript	ENST00000380554.5	protein_coding		658		chr10	TogoVar
AKT3_chr1_243494724_243855243	243525803	G G	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	301	0.0033	22	c.125 others(43): Show c.1252-13378_1252-13377insTTCTTTCTTTCTTTCTTTCTTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243686630	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA21309.hp1 HG01175.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0234 a0001c0001t0001g0143 a0001c0001t0001g0234	2	301	0.0066	22	c.172 others(39): Show c.172+8939_172+8960dupATATATATATATATATATATAT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243686651	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02258.hp2 HG02738.hp1 others(1): Show HG01361.hp1 HG02258.hp2 HG02738.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0260 a0001c0001t0001g0262 others(1): Show a0001c0001t0001g0226 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0264	4	301	0.0133	22	c.172 others(39): Show c.172+8939_172+8940insAATATATATATATATATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243699465	C C	CCATATAT others(15): Show CCATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	301	0.0033	22	c.47- others(37): Show c.47-3750_47-3749insTATATATATATATATATATATG	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243699465	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0201 a0001c0001t0034g0201	1	301	0.0033	22	c.47- others(37): Show c.47-3771_47-3750dupTATATATATATATATATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243699511	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0286 a0001c0001t0020g0286	1	301	0.0033	22	c.47- others(37): Show c.47-3796_47-3795insCATATATATATATATATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
ALAD_chr9_113381312_113406284	113381760	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02602.hp1 HG02922.hp1 others(2): Show HG02258.hp1 HG02602.hp1 HG02922.hp1 HG03579.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0014 a0001c0001t0016 a0001c0002t0002	a0001c0001t0001g0009 a0001c0001t0007g0294 a0001c0001t0014g0293 others(2): Show a0001c0001t0001g0009 a0001c0001t0007g0294 a0001c0001t0014g0293 a0001c0001t0016g0112 a0001c0002t0002g0003	5	446	0.0112	22	c.65 others(33): Show c.6539_*6540insAAAAAAAAAAAAAAAAAAAAAA	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding		4551		chr9	TogoVar
ALCAM_chr3_105361909_105581900	105368223	A A	AAGAGAGA others(15): Show AAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG00621.hp1 others(13): Show HG00280.hp2 HG00609.hp2 HG00621.hp1 HG00738.hp1 HG01106.hp1 HG01361.hp1 HG02155.hp1 HG02257.hp1 HG02300.hp1 HG02602.hp1 HG02738.hp2 NA18747.hp1 NA18963.hp1 NA18966.hp2 NA18977.hp2 NA18985.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0002c0004 a0004c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0002t0003 a0001c0003t0001 a0001c0011t0010 a0002c0004t0002 a0004c0007t0001	a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0001g0346 others(13): Show a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0004g0257 a0001c0001t0005g0350 a0001c0001t0007g0256 a0001c0002t0003g0252 a0001c0002t0003g0253 a0001c0002t0003g0369 a0001c0003t0001g0050 a0001c0011t0010g0345 a0002c0004t0002g0255 a0004c0007t0001g0258	16	378	0.0423	22	c.73+ others(35): Show c.73+762_73+783dupGAGAGAGAGAGAGAGAGAGAGA	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105563667	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01981.hp1 HG04228.hp2 HG01099.hp2 HG01981.hp1 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0017 a0001c0002t0003g0094 a0001c0002t0003g0095 a0001c0002t0003g0017 a0001c0002t0003g0094 a0001c0002t0003g0095	3	378	0.0079	22	c.166 others(41): Show c.1665-8175_1665-8154dupTTTTTTTTTTTTTTTTTTTTTT	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALDH1A2_chr15_57948429_58070711	57958214	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02258.hp2 HG02895.hp1 others(5): Show HG00673.hp2 HG02258.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03098.hp1 HG03225.hp1 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0003 a0002c0003t0003 a0002c0002t0003 a0002c0003t0003	a0002c0002t0003g0014 a0002c0002t0003g0021 a0002c0003t0003g0011 others(5): Show a0002c0002t0003g0014 a0002c0002t0003g0021 a0002c0003t0003g0011 a0002c0003t0003g0015 a0002c0003t0003g0016 a0002c0003t0003g0017 a0002c0003t0003g0018 a0002c0003t0003g0044	8	326	0.0245	22	c.148 others(41): Show c.1484+2555_1484+2556insTGTGTGTGTGTGTGTGTGTGTG	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	12/12			chr15	TogoVar
ALDH1A2_chr15_57948429_58070711	57958214	G G	GCACACAC others(15): Show GCACACACACACGCACGCACACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG03209.hp2 HG02055.hp2 HG02572.hp1 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0297 a0002c0002t0003g0314 a0002c0002t0003g0315 a0002c0002t0003g0297 a0002c0002t0003g0314 a0002c0002t0003g0315	3	326	0.0092	22	c.148 others(41): Show c.1484+2555_1484+2556insTGTGTGCGTGCGTGTGTGTGTG	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	12/12			chr15	TogoVar
ALDH1A2_chr15_57948429_58070711	58004693	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0136 a0002c0002t0002g0136	1	326	0.0031	22	c.493 others(39): Show c.493+5955_493+5956insCACACACACACACACACACACA	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	4/12			chr15	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0223 a0001c0002t0002g0223	1	386	0.0026	22	c.194 others(37): Show c.194-839_194-838insAATATATATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02135.hp1 HG02040.hp2 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0147 a0001c0002t0002g0166 a0001c0002t0002g0147 a0001c0002t0002g0166	2	386	0.0052	22	c.194 others(37): Show c.194-839_194-838insAAAATATATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18986.hp2 NA18747.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0148 a0001c0002t0002g0159 a0001c0002t0002g0148 a0001c0002t0002g0159	2	386	0.0052	22	c.194 others(37): Show c.194-839_194-838insAAAAAATATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0370 a0001c0002t0021g0370	1	386	0.0026	22	c.194 others(37): Show c.194-839_194-838insAAAAAAAATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(15): Show ATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	386	0.0026	22	c.194 others(37): Show c.194-839_194-838insAAAAAAAAAAAAAATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH3B2_chr11_67657155_67679623	67672081	A A	ATGTATGT others(15): Show ATGTATGTATGTATGTATGTATG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0010 a0008c0012t0010	a0008c0012t0010g0198 a0008c0012t0010g0198	1	390	0.0026	22	c.-24 others(41): Show c.-245+2354_-245+2355insCATACATACATACATACATACA	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9			chr11	TogoVar
ALDH4A1_chr1_18866430_18907555	18876661	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG01074.hp1 others(29): Show HG00140.hp1 HG00408.hp2 HG01074.hp1 HG01255.hp1 HG01256.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01981.hp1 HG02071.hp1 HG02148.hp2 HG02273.hp1 HG02738.hp2 HG02886.hp2 HG02897.hp1 HG03017.hp1 HG03688.hp1 HG03834.hp2 HG04199.hp1 NA18612.hp2 NA18942.hp2 NA18950.hp2 NA18952.hp2 NA18959.hp2 NA18966.hp2 NA18970.hp2 NA18972.hp1 NA18974.hp1 NA19058.hp1 NA19079.hp2 NA20752.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0036 a0004c0019 a0006c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0027 a0001c0002t0001 a0001c0005t0001 a0001c0007t0001 a0001c0036t0001 a0004c0019t0014 a0006c0012t0008	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0034 others(23): Show a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0078 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0301 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0085 a0001c0001t0005g0285 a0001c0001t0027g0313 a0001c0002t0001g0160 a0001c0002t0001g0291 a0001c0005t0001g0083 a0001c0005t0001g0181 a0001c0005t0001g0229 a0001c0007t0001g0112 a0001c0036t0001g0210 a0004c0019t0014g0333 a0006c0012t0008g0153	32	406	0.0788	22	c.118 others(39): Show c.1186-195_1186-194insCACACACACACACACACACACA	ALDH4A1	ENSG00000159423.17	transcript	ENST00000375341.8	protein_coding	11/14			chr1	TogoVar
ALDH5A1_chr6_24489969_24542207	24508361	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19067.hp2 NA19078.hp2 HG02559.hp1 NA19067.hp2 NA19078.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0005 a0003c0003t0001 a0002c0002t0005 a0003c0003t0001	a0002c0002t0005g0060 a0003c0003t0001g0041 a0003c0003t0001g0042 a0002c0002t0005g0060 a0003c0003t0001g0041 a0003c0003t0001g0042	3	368	0.0082	22	c.726 others(39): Show c.726+3382_726+3403dupAAAAAAAAAAAAAAAAAAAAAA	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24522478	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00642.hp1 HG00735.hp1 others(6): Show HG00544.hp2 HG00642.hp1 HG00735.hp1 HG00741.hp2 HG01099.hp1 HG01517.hp2 HG02559.hp2 HG03831.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0001 a0001c0001t0029	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 others(6): Show a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0220 a0001c0001t0029g0216	9	368	0.0245	22	c.101 others(39): Show c.1015-284_1015-263dupGTGTGTGTGTGTGTGTGTGTGT	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
ALG10B_chr12_38311774_38334721	38333759	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 NA18906.hp2 HG02109.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0010	2	452	0.0044	22	c.12 others(35): Show c.12546_*12547insTGTGTGTGTGTGTGTGTGTGTG	ALG10B	ENSG00000175548.9	transcript	ENST00000308742.9	protein_coding		4039		chr12	TogoVar
ALG12_chr22_49895229_49923438	49902409	C C	CGTGTGCA others(15): Show CGTGTGCACTGTGTATGCATGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(110): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp2 HG00741.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01975.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18947.hp1 NA18952.hp2 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp2 NA18974.hp2 NA18980.hp2 NA18989.hp2 NA18990.hp2 NA18994.hp2 NA19001.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19065.hp1 NA19067.hp1 NA19081.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0007 a0008	a0001c0002 a0001c0004 a0001c0005 others(7): Show a0001c0002 a0001c0004 a0001c0005 a0001c0010 a0001c0015 a0002c0003 a0005c0014 a0006c0016 a0007c0017 a0008c0018	a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 others(34): Show a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0012 a0001c0002t0016 a0001c0002t0033 a0001c0002t0035 a0001c0002t0036 a0001c0002t0068 a0001c0002t0069 a0001c0002t0070 a0001c0002t0071 a0001c0002t0072 a0001c0002t0074 a0001c0004t0009 a0001c0004t0019 a0001c0004t0022 a0001c0004t0032 a0001c0005t0013 a0001c0005t0020 a0001c0005t0021 a0001c0005t0034 a0001c0010t0066 a0001c0015t0012 a0002c0003t0004 a0002c0003t0014 a0002c0003t0028 a0002c0003t0038 a0002c0003t0039 a0002c0003t0040 a0002c0003t0042 a0002c0003t0063 a0005c0014t0013 a0006c0016t0041 a0007c0017t0007 a0008c0018t0067	a0001c0002t0003g0009 a0001c0002t0003g0021 a0001c0002t0003g0022 others(76): Show a0001c0002t0003g0009 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0026 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0071 a0001c0002t0003g0072 a0001c0002t0003g0081 a0001c0002t0003g0091 a0001c0002t0003g0092 a0001c0002t0003g0093 a0001c0002t0007g0008 a0001c0002t0007g0077 a0001c0002t0007g0079 a0001c0002t0007g0084 a0001c0002t0008g0013 a0001c0002t0008g0065 a0001c0002t0008g0073 a0001c0002t0008g0078 a0001c0002t0008g0085 a0001c0002t0010g0047 a0001c0002t0010g0048 a0001c0002t0010g0189 a0001c0002t0010g0190 a0001c0002t0012g0050 a0001c0002t0012g0191 a0001c0002t0012g0192 a0001c0002t0016g0023 a0001c0002t0016g0083 a0001c0002t0033g0075 a0001c0002t0035g0069 a0001c0002t0036g0082 a0001c0002t0068g0188 a0001c0002t0069g0187 a0001c0002t0070g0186 a0001c0002t0071g0100 a0001c0002t0072g0174 a0001c0002t0074g0194 a0001c0004t0009g0016 a0001c0004t0009g0094 a0001c0004t0009g0095 a0001c0004t0009g0096 a0001c0004t0019g0028 a0001c0004t0022g0027 a0001c0004t0032g0097 a0001c0005t0013g0086 a0001c0005t0013g0087 a0001c0005t0013g0088 a0001c0005t0020g0024 a0001c0005t0021g0025 a0001c0005t0034g0089 a0001c0010t0066g0184 a0001c0015t0012g0193 a0002c0003t0004g0007 a0002c0003t0004g0012 a0002c0003t0004g0054 a0002c0003t0004g0056 a0002c0003t0004g0058 a0002c0003t0004g0059 a0002c0003t0004g0061 a0002c0003t0004g0062 a0002c0003t0014g0020 a0002c0003t0014g0053 a0002c0003t0014g0060 a0002c0003t0028g0158 a0002c0003t0028g0182 a0002c0003t0038g0057 a0002c0003t0039g0055 a0002c0003t0040g0051 a0002c0003t0042g0098 a0002c0003t0063g0183 a0005c0014t0013g0090 a0006c0016t0041g0099 a0007c0017t0007g0080 a0008c0018t0067g0185	113	348	0.3247	22	c.14 others(33): Show c.1428_*1429insACCATGCATACACAGTGCACAC	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	10/10	1428		chr22	TogoVar
ALG1L2_chr3_130076831_130103390	130080282	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	261	0.0038	22	c.-17 others(33): Show c.-1735_-1734insTTTTTTTTTTTTTTTTTTTTTT	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding		1548		chr3	TogoVar
ALG2_chr9_99211425_99226942	99212602	T T	TGGGCCCA others(15): Show TGGGCCCATGAAGATCCAGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	376	0.0027	22	c.53 others(33): Show c.5331_*5332insGCCCCTGGATCTTCATGGGCCC	ALG2	ENSG00000119523.10	transcript	ENST00000476832.2	protein_coding		3822		chr9	TogoVar
ALG8_chr11_78095946_78144626	78130361	A A	AAAAAAAA others(15): Show AAAAAAAAGAAAAGAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01081.hp2 NA18982.hp1 HG01070.hp1 HG01081.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0003t0001g0111 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0003t0001g0111	3	402	0.0075	22	c.96- others(37): Show c.96-2926_96-2925insCTTTCTTTTCTTTTCTTTTTTT	ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding	1/12			chr11	TogoVar
ALG8_chr11_78095946_78144626	78143317	A A	AACACACA others(15): Show AACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19066.hp2 NA19005.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0311 a0001c0001t0001g0281 a0001c0001t0001g0311	2	402	0.0050	22	c.-37 others(33): Show c.-3730_-3729insGTGTGTGTGTGTGTGTGTGTGT	ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding		3692		chr11	TogoVar
ALG9_chr11_111777195_111876581	111850706	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG01070.hp2 others(24): Show HG00099.hp1 HG00741.hp2 HG01070.hp2 HG01256.hp1 HG01258.hp1 HG01515.hp2 HG01975.hp2 HG01993.hp2 HG02083.hp1 HG02155.hp1 HG02258.hp2 HG02572.hp2 HG02602.hp1 HG02735.hp2 HG02738.hp2 HG02895.hp1 HG03017.hp2 HG03516.hp1 HG03710.hp2 HG03834.hp2 NA18954.hp1 NA18955.hp1 NA18979.hp1 NA18992.hp2 NA19077.hp1 NA19084.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0005c0007t0009	a0001c0001t0001g0294 a0001c0001t0002g0002 a0001c0001t0002g0008 others(21): Show a0001c0001t0001g0294 a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0130 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0189 a0001c0001t0002g0193 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0001t0010g0290 a0001c0001t0013g0165 a0005c0007t0009g0284	27	314	0.0860	22	c.895 others(39): Show c.895+2673_895+2674insTTTTTTTTTTTTTTTTTTTTTT	ALG9	ENSG00000086848.15	transcript	ENST00000616540.5	protein_coding	8/14			chr11	TogoVar
ALKBH4_chr7_102451238_102469863	102467169	G G	GGTGTGTG others(15): Show GGTGTGTGTGTATGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	404	0.0025	22	c.-23 others(33): Show c.-2334_-2333insACACACACACATACACACACAC	ALKBH4	ENSG00000160993.4	transcript	ENST00000292566.4	protein_coding		2307		chr7	TogoVar
ALK_chr2_29187774_29926586	29293844	T T	TATATTTC others(15): Show TATATTTCATGTAACAGCCAGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(55): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00738.hp1 HG00738.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp2 NA18906.hp1 NA18969.hp1 NA18969.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008	a0001c0004 a0001c0006 a0001c0009 others(40): Show a0001c0004 a0001c0006 a0001c0009 a0001c0016 a0001c0020 a0001c0022 a0001c0023 a0001c0025 a0001c0027 a0001c0033 a0001c0035 a0001c0037 a0001c0053 a0001c0058 a0002c0001 a0002c0007 a0002c0008 a0002c0011 a0002c0014 a0002c0018 a0002c0028 a0002c0030 a0002c0036 a0002c0052 a0002c0055 a0002c0056 a0003c0003 a0003c0005 a0003c0010 a0003c0012 a0003c0015 a0003c0026 a0003c0031 a0003c0034 a0003c0041 a0003c0054 a0004c0002 a0004c0042 a0004c0045 a0005c0013 a0005c0021 a0006c0029 a0008c0057	a0001c0004t0001 a0001c0006t0001 a0001c0006t0007 others(41): Show a0001c0004t0001 a0001c0006t0001 a0001c0006t0007 a0001c0009t0005 a0001c0016t0007 a0001c0020t0005 a0001c0022t0001 a0001c0023t0010 a0001c0025t0011 a0001c0027t0001 a0001c0033t0001 a0001c0035t0001 a0001c0037t0005 a0001c0053t0001 a0001c0058t0001 a0002c0001t0001 a0002c0007t0001 a0002c0008t0001 a0002c0011t0001 a0002c0014t0001 a0002c0018t0001 a0002c0028t0001 a0002c0030t0001 a0002c0036t0015 a0002c0052t0001 a0002c0055t0001 a0002c0056t0001 a0003c0003t0002 a0003c0005t0002 a0003c0010t0006 a0003c0012t0002 a0003c0015t0002 a0003c0026t0002 a0003c0031t0002 a0003c0034t0002 a0003c0041t0002 a0003c0054t0002 a0004c0002t0003 a0004c0042t0003 a0004c0045t0002 a0005c0013t0004 a0005c0021t0004 a0006c0029t0001 a0008c0057t0002	a0001c0004t0001g0037 a0001c0006t0001g0026 a0001c0006t0001g0036 others(55): Show a0001c0004t0001g0037 a0001c0006t0001g0026 a0001c0006t0001g0036 a0001c0006t0007g0056 a0001c0009t0005g0018 a0001c0009t0005g0054 a0001c0016t0007g0004 a0001c0020t0005g0005 a0001c0022t0001g0007 a0001c0023t0010g0076 a0001c0025t0011g0074 a0001c0027t0001g0013 a0001c0033t0001g0029 a0001c0035t0001g0068 a0001c0037t0005g0028 a0001c0053t0001g0070 a0001c0058t0001g0024 a0002c0001t0001g0027 a0002c0001t0001g0033 a0002c0001t0001g0061 a0002c0001t0001g0062 a0002c0001t0001g0063 a0002c0007t0001g0064 a0002c0007t0001g0066 a0002c0008t0001g0049 a0002c0011t0001g0042 a0002c0011t0001g0051 a0002c0014t0001g0009 a0002c0018t0001g0008 a0002c0028t0001g0014 a0002c0030t0001g0060 a0002c0036t0015g0080 a0002c0052t0001g0017 a0002c0055t0001g0031 a0002c0056t0001g0040 a0003c0003t0002g0038 a0003c0003t0002g0059 a0003c0003t0002g0065 a0003c0005t0002g0045 a0003c0010t0006g0001 a0003c0010t0006g0002 a0003c0012t0002g0034 a0003c0012t0002g0067 a0003c0015t0002g0010 a0003c0026t0002g0015 a0003c0031t0002g0030 a0003c0034t0002g0071 a0003c0041t0002g0046 a0003c0054t0002g0069 a0004c0002t0003g0025 a0004c0002t0003g0057 a0004c0002t0003g0058 a0004c0042t0003g0073 a0004c0045t0002g0043 a0005c0013t0004g0050 a0005c0021t0004g0006 a0006c0029t0001g0016 a0008c0057t0002g0023	58	80	0.7250	22	c.181 others(41): Show c.1817+3043_1817+3044insCCCTGGCTGTTACATGAAATAT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	9/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29789015	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0027 a0002c0001t0001g0027	1	80	0.0125	22	c.668 others(41): Show c.668-71340_668-71319dupCACACACACACACACACACACA	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALOX15B_chr17_8034059_8054134	8040905	G G	GATAACAG others(15): Show GATAACAGAGGACTTGGAGATAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp1 others(111): Show HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 NA18747.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18982.hp1 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19060.hp1 NA19065.hp2 NA19068.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19078.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp1 NA20129.hp1 NA20752.hp1	a0001 a0021 a0024 a0001 a0021 a0024	a0001c0001 a0001c0008 a0001c0021 others(5): Show a0001c0001 a0001c0008 a0001c0021 a0001c0023 a0001c0033 a0001c0036 a0021c0040 a0024c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0008t0001 a0001c0008t0010 a0001c0021t0001 a0001c0023t0001 a0001c0023t0002 a0001c0033t0001 a0001c0036t0001 a0021c0040t0009 a0024c0041t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(64): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0081 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0202 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0247 a0001c0001t0001g0259 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0066 a0001c0001t0002g0087 a0001c0001t0002g0146 a0001c0001t0002g0158 a0001c0001t0002g0188 a0001c0001t0016g0163 a0001c0008t0001g0239 a0001c0008t0001g0241 a0001c0008t0010g0240 a0001c0008t0010g0242 a0001c0021t0001g0001 a0001c0021t0001g0006 a0001c0021t0001g0055 a0001c0023t0001g0201 a0001c0023t0002g0038 a0001c0033t0001g0182 a0001c0036t0001g0038 a0021c0040t0009g0127 a0024c0041t0001g0039	114	470	0.2426	22	c.449 others(37): Show c.449+922_449+923insATAACAGAGGACTTGGAGATAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	3/13			chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8044105	G G	GAGAGGAA others(15): Show GAGAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0085 a0001c0010t0004g0085	1	470	0.0021	22	c.677 others(37): Show c.677-722_677-721insAGGAAGGAAGGAAGGAAGGAAG	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8049283	T T	TAAAAAAA others(15): Show TAAAAAAAAGAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG02145.hp2 HG03453.hp2 others(3): Show HG01361.hp1 HG02145.hp2 HG03453.hp2 HG03669.hp2 NA18956.hp1 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0008 a0004c0006 a0001c0008 a0004c0006	a0001c0008t0001 a0001c0008t0010 a0004c0006t0017 a0001c0008t0001 a0001c0008t0010 a0004c0006t0017	a0001c0008t0001g0145 a0001c0008t0001g0239 a0001c0008t0001g0241 others(3): Show a0001c0008t0001g0145 a0001c0008t0001g0239 a0001c0008t0001g0241 a0001c0008t0010g0240 a0001c0008t0010g0242 a0004c0006t0017g0073	6	470	0.0128	22	c.71 others(31): Show c.718_*719insAAAAAAAAGAAAAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		150		chr17	TogoVar
ALOX15B_chr17_8034059_8054134	8050306	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01516.hp2 HG01517.hp2 others(9): Show HG00621.hp1 HG01516.hp2 HG01517.hp2 HG02027.hp2 HG02135.hp1 HG02615.hp1 NA18612.hp1 NA18944.hp1 NA19010.hp1 NA19011.hp2 NA19064.hp1 NA19067.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0002c0003 a0001c0005 a0002c0002 a0002c0003	a0001c0005t0004 a0002c0002t0002 a0002c0003t0002 a0001c0005t0004 a0002c0002t0002 a0002c0003t0002	a0001c0005t0004g0002 a0001c0005t0004g0007 a0001c0005t0004g0014 others(8): Show a0001c0005t0004g0002 a0001c0005t0004g0007 a0001c0005t0004g0014 a0002c0002t0002g0016 a0002c0002t0002g0048 a0002c0002t0002g0053 a0002c0002t0002g0088 a0002c0002t0002g0095 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0003t0002g0080	12	470	0.0255	22	c.17 others(33): Show c.1741_*1742insAAAAAAAAAAAAAAAAAAAAAA	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding		1173		chr17	TogoVar
ALOX15_chr17_4625919_4646678	4644158	A A	ATTTCTGG others(15): Show ATTTCTGGACCAAAAGCATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	472	0.0021	22	c.-25 others(33): Show c.-2508_-2507insATTTATGCTTTTGGTCCAGAAA	ALOX15	ENSG00000161905.13	transcript	ENST00000293761.8	protein_coding		2481		chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107965	G G	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAAGAGAGA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	422	0.0024	22	c.168 others(39): Show c.1684+502_1684+503insTCTCTCTTTTCTTTCTTTCTTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALPK2_chr18_58476247_58634091	58578733	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02080.hp1 HG03710.hp1 others(2): Show HG00735.hp2 HG02080.hp1 HG03710.hp1 NA19043.hp1 NA20805.hp1	a0001 a0004 a0017 a0001 a0004 a0017	a0001c0001 a0004c0004 a0017c0017 a0001c0001 a0004c0004 a0017c0017	a0001c0001t0001 a0004c0004t0001 a0004c0004t0003 others(1): Show a0001c0001t0001 a0004c0004t0001 a0004c0004t0003 a0017c0017t0023	a0001c0001t0001g0245 a0004c0004t0001g0154 a0004c0004t0003g0184 others(2): Show a0001c0001t0001g0245 a0004c0004t0001g0154 a0004c0004t0003g0184 a0004c0004t0003g0227 a0017c0017t0023g0139	5	320	0.0156	22	c.196 others(37): Show c.1962+59_1962+80dupGTGTGTGTGTGTGTGTGTGTGT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar

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