Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATP8A2_chr13_25366974_26030851	25531388	A A	ATATATGT others(18): Show ATATATGTTATATATGATATATATGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG03130.hp1 others(5): Show HG02280.hp2 HG02630.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp1 HG03540.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0015 others(1): Show a0001c0001 a0001c0003 a0001c0015 a0001c0016	a0001c0001t0005 a0001c0001t0016 a0001c0001t0025 others(5): Show a0001c0001t0005 a0001c0001t0016 a0001c0001t0025 a0001c0001t0048 a0001c0001t0072 a0001c0003t0073 a0001c0015t0008 a0001c0016t0045	a0001c0001t0005g0102 a0001c0001t0016g0104 a0001c0001t0025g0009 others(5): Show a0001c0001t0005g0102 a0001c0001t0016g0104 a0001c0001t0025g0009 a0001c0001t0048g0122 a0001c0001t0072g0027 a0001c0003t0073g0001 a0001c0015t0008g0015 a0001c0016t0045g0105	8	122	0.0656	25	c.420 others(40): Show c.420+733_420+734insGTTATATATGATATATATGTTATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25744925	T T	TTTTTCTT others(18): Show TTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0099 a0001c0002t0039g0099	1	122	0.0082	25	c.238 others(46): Show c.2385-24116_2385-24092dupCTTTTCTTTTCTTTTCTTTTCTTT T	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	25/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25937362	C C	CTTTCTTT others(18): Show CTTTCTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01070.hp1 others(4): Show HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01261.hp1 HG01261.hp2 HG02015.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0012	a0001c0001t0011 a0001c0001t0017 a0001c0001t0042 others(4): Show a0001c0001t0011 a0001c0001t0017 a0001c0001t0042 a0001c0002t0029 a0001c0003t0014 a0001c0004t0004 a0001c0012t0002	a0001c0001t0011g0063 a0001c0001t0017g0051 a0001c0001t0042g0059 others(4): Show a0001c0001t0011g0063 a0001c0001t0017g0051 a0001c0001t0042g0059 a0001c0002t0029g0052 a0001c0003t0014g0111 a0001c0004t0004g0048 a0001c0012t0002g0110	7	122	0.0574	25	c.318 others(46): Show c.3184-24210_3184-24209insCTTTTTTTTTTTTTTTTTTTTTTT T	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25979043	G G	GGTCTCTG others(18): Show GGTCTCTGTCACTAGACTAGTGACTA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0013 a0001c0008t0013	a0001c0008t0013g0074 a0001c0008t0013g0074	1	122	0.0082	25	c.337 others(46): Show c.3377+10379_3377+10403dupACTAGTGACTAGTCTCTGTCACTA G	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	35/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57680277	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00558.hp1 others(9): Show HG00408.hp1 HG00438.hp1 HG00558.hp1 HG01074.hp1 HG01167.hp1 HG01257.hp2 HG02293.hp1 HG02602.hp1 NA18942.hp1 NA18942.hp2 NA18991.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0029	a0001c0001t0002g0221 a0001c0001t0002g0227 a0001c0001t0002g0245 others(9): Show a0001c0001t0002g0221 a0001c0001t0002g0227 a0001c0001t0002g0245 a0001c0001t0005g0127 a0001c0001t0009g0225 a0001c0001t0009g0230 a0001c0001t0009g0249 a0001c0001t0009g0286 a0001c0001t0010g0186 a0001c0001t0011g0145 a0001c0001t0012g0180 a0001c0001t0029g0092	12	314	0.0382	25	c.163 others(44): Show c.1630+3734_1630+3758dupTTTTTTTTTTTTTTTTTTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27			chr18	TogoVar
ATP8B3_chr19_1777075_1817276	1801282	G G	GCTGGGAT others(18): Show GCTGGGATTACAGGTGTGAGCCACCA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0175 a0001c0008t0003g0175	1	390	0.0026	25	c.115 others(42): Show c.1152+649_1152+673dupTGGTGGCTCACACCTGTAATCCCAG	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	12/28			chr19	TogoVar
ATP8B4_chr15_49853238_50124233	50050732	T T	TAATATGT others(18): Show TAATATGTTTTATATAAAACATATTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02630.hp2 HG02896.hp1 others(4): Show HG01884.hp1 HG02630.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 NA19043.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0002 a0001c0001t0019 a0002c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0019 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0004c0004t0011	a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0019g0035 others(4): Show a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0019g0035 a0002c0002t0001g0252 a0002c0002t0002g0065 a0002c0002t0010g0093 a0004c0004t0011g0063	7	254	0.0276	25	c.88- others(40): Show c.88-3293_88-3269dupTAATATGTTTTATATAAAACATATT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51642726	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18968.hp1 HG03239.hp2 NA18968.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0041 a0001c0004t0002 a0001c0004t0041	a0001c0004t0002g0203 a0001c0004t0041g0182 a0001c0004t0002g0203 a0001c0004t0041g0182	2	312	0.0064	25	c.150 others(44): Show c.1507-3247_1507-3223dupTTTTTTTTTTTTTTTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51658888	C C	CGGGGGGG others(18): Show CGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0109 a0001c0004t0004g0109	1	312	0.0032	25	c.129 others(44): Show c.1294-1739_1294-1738insCCCCCCCCCCCCCCCCCCCCCCCCC	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	13/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51718814	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0050 a0001c0001t0064g0050	1	312	0.0032	25	c.328 others(42): Show c.328-5765_328-5741dupTTTTTTTTTTTTTTTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	3/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51741034	T T	TTTAATTA others(18): Show TTTAATTAATTAAAAATAAATTTTAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00438.hp2 others(82): Show HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01175.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01934.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02523.hp1 HG02818.hp1 HG02895.hp1 HG03239.hp1 HG03516.hp2 HG03669.hp2 HG03710.hp1 HG04228.hp2 NA18612.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19065.hp1 NA19070.hp1 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0034 a0001c0001t0038 a0001c0001t0058 a0001c0001t0061 a0001c0001t0072 a0001c0001t0073 a0001c0001t0076 a0001c0001t0078 a0001c0001t0081 a0001c0002t0005 a0001c0006t0003 a0001c0007t0001 a0001c0008t0004 a0001c0009t0003 a0001c0009t0007 a0001c0013t0002	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 others(82): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0168 a0001c0001t0001g0190 a0001c0001t0001g0211 a0001c0001t0001g0273 a0001c0001t0001g0282 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0191 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0305 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0057 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0079 a0001c0001t0003g0084 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0218 a0001c0001t0003g0220 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0302 a0001c0001t0004g0106 a0001c0001t0006g0011 a0001c0001t0006g0022 a0001c0001t0006g0059 a0001c0001t0006g0098 a0001c0001t0006g0104 a0001c0001t0006g0229 a0001c0001t0006g0276 a0001c0001t0007g0071 a0001c0001t0009g0020 a0001c0001t0010g0034 a0001c0001t0010g0192 a0001c0001t0010g0272 a0001c0001t0011g0021 a0001c0001t0011g0099 a0001c0001t0011g0101 a0001c0001t0018g0254 a0001c0001t0019g0248 a0001c0001t0022g0028 a0001c0001t0022g0103 a0001c0001t0023g0036 a0001c0001t0023g0042 a0001c0001t0023g0100 a0001c0001t0024g0018 a0001c0001t0025g0019 a0001c0001t0026g0043 a0001c0001t0030g0214 a0001c0001t0034g0159 a0001c0001t0038g0025 a0001c0001t0058g0076 a0001c0001t0061g0014 a0001c0001t0072g0217 a0001c0001t0073g0219 a0001c0001t0076g0213 a0001c0001t0078g0038 a0001c0001t0081g0058 a0001c0002t0005g0065 a0001c0002t0005g0189 a0001c0006t0003g0231 a0001c0006t0003g0232 a0001c0007t0001g0023 a0001c0008t0004g0137 a0001c0008t0004g0306 a0001c0009t0003g0283 a0001c0009t0007g0233 a0001c0013t0002g0105	85	312	0.2724	25	c.69- others(42): Show c.69-11081_69-11057dupTTAAAATTTATTTTTAATTAATTAA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02970.hp2 NA18945.hp2 others(1): Show HG02572.hp1 HG02970.hp2 NA18945.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0006 a0001c0001t0001 a0001c0011t0006	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0011t0006g0106 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0011t0006g0106 a0001c0011t0006g0107	4	298	0.0134	25	c.119 others(42): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTTTTTTTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRNL1_chr10_115088365_115953999	115225475	T T	TTAATATA others(18): Show TTAATATAATATAATATAATATAATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0013 a0002c0004t0002g0013	1	128	0.0078	25	c.153 others(44): Show c.1532+9602_1532+9626dupAATATAATATAATATAATATAATAT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115351742	G G	GTGTTTTG others(18): Show GTGTTTTGTTTTGTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18522.hp2 HG03834.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0028 a0001c0003t0041 a0001c0002t0028 a0001c0003t0041	a0001c0002t0028g0076 a0001c0003t0041g0047 a0001c0002t0028g0076 a0001c0003t0041g0047	2	128	0.0156	25	c.317 others(46): Show c.3175+17329_3175+17353dupTGTTTTGTTTTGTTTTGTTTTGTT T	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115632864	T T	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01123.hp1 HG01361.hp2 others(8): Show HG01081.hp2 HG01123.hp1 HG01361.hp2 HG01952.hp1 HG03471.hp1 HG03540.hp1 NA18957.hp2 NA18959.hp1 NA18994.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0026 a0001c0016t0003	a0001c0001t0001g0036 a0001c0001t0001g0065 a0001c0001t0001g0091 others(8): Show a0001c0001t0001g0036 a0001c0001t0001g0065 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0002g0017 a0001c0001t0003g0093 a0001c0001t0006g0109 a0001c0001t0009g0122 a0001c0001t0026g0010 a0001c0016t0003g0097	11	128	0.0859	25	c.379 others(46): Show c.3795+83348_3795+83372dupATTTTATTTTATTTTATTTTATTT T	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115738154	T T	TTTTTTTT others(18): Show TTTTTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA19011.hp2 HG01361.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0091 a0001c0001t0001g0055 a0001c0001t0001g0091	2	128	0.0156	25	c.390 others(46): Show c.3903+10801_3903+10802insTTTTTTTTTTTTTTTTTTTTTTCT T	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115802046	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	128	0.0078	25	c.390 others(46): Show c.3904-45831_3904-45830insCACACACACACACACACACACACA C	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28			chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115952832	C C	CTCAGCTT others(18): Show CTCAGCTTGACCAAGCTGCATACACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0043 a0001c0002t0005g0043	1	128	0.0078	25	c.80 others(36): Show c.8053_*8054insTCAGCTTGACCAAGCTGCATACACG	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding		3834		chr10	TogoVar
ATRN_chr20_3466018_3656118	3512107	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0162 a0002c0004t0004g0162	1	220	0.0046	25	c.411 others(44): Show c.411-23145_411-23144insATATATATATATATTTTTTTTTTTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77585583	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0213 a0001c0001t0005g0213	1	218	0.0046	25	c.621 others(44): Show c.6217+4226_6217+4250dupTTTTTTTTTTTTTTTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77651217	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	218	0.0046	25	c.455 others(42): Show c.4557+872_4557+896dupTTTTTTTTTTTTTTTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	15/34			chrX	TogoVar
ATRX_chrX_77499880_77791216	77671163	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0179 a0001c0001t0006g0179	1	218	0.0046	25	c.380 others(44): Show c.3809+5062_3809+5063insATATATATATATATATATATATATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	10/34			chrX	TogoVar
ATR_chr3_142444235_142583733	142544452	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02735.hp2 HG01258.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0132 a0001c0001t0001g0134	2	322	0.0062	25	c.335 others(44): Show c.3358-1720_3358-1696dupTTTTTTTTTTTTTTTTTTTTTTTTT	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	16/46			chr3	TogoVar
ATXN10_chr22_45666834_45850307	45795354	G G	GATTCTAT others(18): Show GATTCTATTCTATTCTATTCTATTCT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	316	0.0032	25	c.117 others(46): Show c.1174-11559_1174-11535dupATTCTATTCTATTCTATTCTATTC T	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45795415	A A	ATTCTATT others(18): Show ATTCTATTCTATTCTATTCTATTGTT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18975.hp2 NA19003.hp1 NA18964.hp1 NA18975.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0091 a0001c0001t0002g0089 a0001c0001t0002g0113 a0001c0001t0001g0091 a0001c0001t0002g0089 a0001c0001t0002g0113	3	316	0.0095	25	c.117 others(46): Show c.1174-11535_1174-11534insATTCTATTCTATTGTTTTCTATTC T	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN10_chr22_45666834_45850307	45819192	A A	AAATAGAA others(18): Show AAATAGAATAGAATAGAATAGAATAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	316	0.0032	25	c.123 others(46): Show c.1237+12206_1237+12230dupAATAGAATAGAATAGAATAGAATA G	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16440648	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp2 HG01243.hp2 others(9): Show HG01081.hp2 HG01109.hp2 HG01243.hp2 HG02451.hp1 HG02523.hp2 HG02698.hp1 HG02970.hp1 HG03139.hp2 HG03516.hp1 NA18906.hp1 NA18942.hp1 NA19060.hp2	a0001 a0003 a0006 others(4): Show a0001 a0003 a0006 a0007 a0008 a0022 a0024	a0001c0001 a0001c0027 a0001c0028 others(6): Show a0001c0001 a0001c0027 a0001c0028 a0003c0003 a0006c0008 a0007c0009 a0008c0024 a0022c0019 a0024c0018	a0001c0001t0001 a0001c0001t0005 a0001c0027t0001 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0027t0001 a0001c0028t0015 a0003c0003t0001 a0003c0003t0021 a0006c0008t0010 a0007c0009t0002 a0008c0024t0001 a0022c0019t0001 a0024c0018t0012	a0001c0001t0001g0178 a0001c0001t0005g0085 a0001c0027t0001g0024 others(9): Show a0001c0001t0001g0178 a0001c0001t0005g0085 a0001c0027t0001g0024 a0001c0028t0015g0125 a0003c0003t0001g0109 a0003c0003t0021g0003 a0006c0008t0010g0038 a0007c0009t0002g0056 a0007c0009t0002g0164 a0008c0024t0001g0143 a0022c0019t0001g0127 a0024c0018t0012g0148	12	182	0.0659	25	c.-16 others(46): Show c.-161+45323_-161+45324insCTTTCTTTTTTTTTTTTTTTTTTT T	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16562451	A A	AAAAGGAA others(18): Show AAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03209.hp1 HG03516.hp1 others(1): Show HG03041.hp1 HG03209.hp1 HG03516.hp1 HG03516.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0028 a0002c0002 a0005c0006 a0001c0028 a0002c0002 a0005c0006	a0001c0028t0015 a0002c0002t0003 a0005c0006t0003 a0001c0028t0015 a0002c0002t0003 a0005c0006t0003	a0001c0028t0015g0017 a0001c0028t0015g0125 a0002c0002t0003g0133 others(1): Show a0001c0028t0015g0017 a0001c0028t0015g0125 a0002c0002t0003g0133 a0005c0006t0003g0166	4	182	0.0220	25	c.-36 others(46): Show c.-361+23328_-361+23329insCCTTTCCTTTCCTTTCCTTTCCTT T	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16562453	A A	AAGGAAAG others(18): Show AAGGAAAGGAAACGAAAGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01884.hp1 HG02451.hp1 others(5): Show HG01074.hp2 HG01884.hp1 HG02451.hp1 HG02965.hp1 NA18906.hp2 NA18942.hp1 NA18972.hp1 NA19030.hp1	a0001 a0003 a0008 others(4): Show a0001 a0003 a0008 a0010 a0013 a0021 a0022	a0001c0001 a0003c0003 a0008c0024 others(4): Show a0001c0001 a0003c0003 a0008c0024 a0010c0010 a0013c0013 a0021c0021 a0022c0019	a0001c0001t0020 a0003c0003t0009 a0008c0024t0001 others(4): Show a0001c0001t0020 a0003c0003t0009 a0008c0024t0001 a0010c0010t0006 a0013c0013t0005 a0021c0021t0004 a0022c0019t0001	a0001c0001t0020g0002 a0003c0003t0009g0055 a0008c0024t0001g0143 others(5): Show a0001c0001t0020g0002 a0003c0003t0009g0055 a0008c0024t0001g0143 a0010c0010t0006g0112 a0013c0013t0005g0100 a0021c0021t0004g0069 a0022c0019t0001g0025 a0022c0019t0001g0127	8	182	0.0440	25	c.-36 others(46): Show c.-361+23326_-361+23327insCTCCTCTCCTTTCGTTTCCTTTCC T	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	4/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16606867	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0023 a0012c0011t0023	a0012c0011t0023g0023 a0012c0011t0023g0023	1	182	0.0055	25	c.-48 others(46): Show c.-488-20961_-488-20960insCACACACACACACACACACACACA C	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7			chr6	TogoVar
ATXN2_chr12_111447214_111604315	111576137	T T	TAACATAA others(18): Show TAACATAACATAACATAACATCACAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18948.hp2 NA18952.hp1 others(2): Show HG02074.hp1 NA18948.hp2 NA18952.hp1 NA18994.hp2 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0024 a0002c0002t0001g0030 others(2): Show a0002c0002t0001g0014 a0002c0002t0001g0024 a0002c0002t0001g0030 a0002c0002t0001g0061 a0002c0002t0001g0068	5	298	0.0168	25	c.252 others(44): Show c.252-20219_252-20218insGTGTGATGTTATGTTATGTTATGTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111588991	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	298	0.0034	25	c.251 others(42): Show c.251+9768_251+9792dupTTTTTTTTTTTTTTTTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN2_chr12_111447214_111604315	111592782	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0281	1	298	0.0034	25	c.251 others(42): Show c.251+6001_251+6002insTTTTTTTTTTTTTTTTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN7L1_chr7_105599772_105881599	105731748	A A	AAAAAGAA others(18): Show AAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02165.hp1 HG02523.hp2 others(4): Show HG01109.hp2 HG02165.hp1 HG02523.hp2 HG02735.hp1 NA18950.hp2 NA18957.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0028 a0001c0001t0048	a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0002g0016 others(4): Show a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0002g0016 a0001c0001t0019g0230 a0001c0001t0028g0037 a0001c0001t0028g0114 a0001c0001t0048g0132	7	252	0.0278	25	c.355 others(44): Show c.355+56831_355+56855dupCTTTTCTTTTCTTTTCTTTTCTTTT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105740784	T T	TTTTTTTT others(18): Show TTTTTTTTTTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01943.hp1 HG02027.hp1 others(11): Show HG01261.hp2 HG01943.hp1 HG02027.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02738.hp1 HG02818.hp1 HG03831.hp1 NA18906.hp2 NA18971.hp2 NA19091.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0019 a0001c0001t0023 a0001c0001t0048 a0001c0001t0058	a0001c0001t0001g0181 a0001c0001t0003g0030 a0001c0001t0003g0070 others(11): Show a0001c0001t0001g0181 a0001c0001t0003g0030 a0001c0001t0003g0070 a0001c0001t0004g0135 a0001c0001t0004g0203 a0001c0001t0006g0022 a0001c0001t0011g0143 a0001c0001t0012g0064 a0001c0001t0012g0115 a0001c0001t0016g0136 a0001c0001t0019g0063 a0001c0001t0023g0183 a0001c0001t0048g0132 a0001c0001t0058g0018	14	252	0.0556	25	c.355 others(44): Show c.355+47819_355+47820insTCAAAAAAAAAAAAAAAAAAAAAAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
ATXN7L3_chr17_44186805_44204884	44195544	G G	GGGTGGAA others(18): Show GGGTGGAAGTGAGAATCAGTCCCTCT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	380	0.0026	25	c.553 others(38): Show c.553-82_553-58dupAGAGGGACTGATTCTCACTTCCACC	ATXN7L3	ENSG00000087152.16	transcript	ENST00000587097.6	protein_coding	8/12			chr17	TogoVar
AUTS2_chr7_69593475_70798506	70011314	T T	TCTCTCCT others(18): Show TCTCTCCTCTCCTCTCCTCTCCTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA21309.hp1 HG02055.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0016 a0001c0001t0011 a0001c0001t0016	a0001c0001t0011g0041 a0001c0001t0016g0002 a0001c0001t0011g0041 a0001c0001t0016g0002	2	76	0.0263	25	c.523 others(46): Show c.523-106791_523-106767dupTCTCCTCTCCTCTCCTCTCCTCTC C	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70073025	C C	CCCTCCCC others(18): Show CCCTCCCCTCCCTTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01175.hp2 others(16): Show HG00099.hp2 HG01081.hp2 HG01175.hp2 HG01952.hp2 HG02055.hp2 HG02258.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG04199.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0010	a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 others(11): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0003t0008 a0001c0003t0027 a0001c0005t0030 a0002c0002t0024 a0002c0002t0026 a0002c0002t0031 a0002c0010t0033	a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 others(16): Show a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0005g0020 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0009g0023 a0001c0001t0028g0021 a0001c0001t0029g0022 a0001c0001t0032g0016 a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0003t0008g0039 a0001c0003t0027g0009 a0001c0005t0030g0013 a0002c0002t0024g0059 a0002c0002t0026g0011 a0002c0002t0031g0007 a0002c0010t0033g0014	19	76	0.2500	25	c.523 others(44): Show c.523-45071_523-45047dupCTTCCCCTCCCCTCTCCTCCCCTCC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70579244	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03516.hp2 HG03041.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0026 a0001c0001t0018g0003 a0001c0001t0001g0026 a0001c0001t0018g0003	2	76	0.0263	25	c.691 others(46): Show c.691-119307_691-119306insAAAAAAAAAAAAAAAAAAAAAAAA A	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70617729	G G	GAGTTGGA others(18): Show GAGTTGGAAAAGTTAAATGATTCACT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0007 a0002c0002t0031g0007	1	76	0.0132	25	c.691 others(44): Show c.691-80839_691-80815dupAGTTGGAAAAGTTAAATGATTCACT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33899460	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03710.hp2 HG03688.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0254 a0001c0001t0001g0049 a0001c0001t0001g0254	2	266	0.0075	25	c.446 others(44): Show c.446-23490_446-23466dupAAAAAAAAAAAAAAAAAAAAAAAAA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVL9_chr7_32490489_32593726	32548144	C C	CTCTTTTT others(18): Show CTCTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0119 a0001c0008t0119	a0001c0008t0119g0311 a0001c0008t0119g0311	1	330	0.0030	25	c.301 others(40): Show c.301-702_301-701insCTTTTTTTTTTTTTTTTTTTTTTTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AXIN1_chr16_282440_357723	286148	C C	CCTCCCTG others(18): Show CCTCCCTGTCAGGCCCTGCAGAGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	378	0.0027	25	c.19 others(36): Show c.1949_*1973dupATCCTCTGCAGGGCCTGACAGGGAG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1291		chr16	TogoVar
AXL_chr19_41214223_41266766	41239468	C C	CCCTCACT others(18): Show CCCTCACTCCCTTACCTGTGCCACGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0265 a0001c0001t0004g0265	1	314	0.0032	25	c.128 others(42): Show c.1285+164_1285+188dupCTTACCTGTGCCACGGCCTCACTCC	AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
B3GALT1_chr2_167288001_167879045	167468845	T T	TGCACAAC others(18): Show TGCACAACAGAATGAGACTCCATCTC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	118	0.0085	25	c.-51 others(46): Show c.-510-21331_-510-21307dupGCACAACAGAATGAGACTCCATCT C	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0130 a0002c0002t0002g0130	1	268	0.0037	25	c.-38 others(36): Show c.-3878_-3877insTATATATATATTTTTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(18): Show ATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0132 a0002c0002t0002g0132	1	268	0.0037	25	c.-38 others(36): Show c.-3878_-3877insTATATATATTTTTTTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316407	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0209 a0003c0004t0004g0209	1	268	0.0037	25	c.106 others(44): Show c.1065-1159_1065-1158insATATATATATATATATATATATATA	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14			chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316434	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	268	0.0037	25	c.106 others(44): Show c.1065-1132_1065-1131insATATATATATATATATATATATATA	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14			chr13	TogoVar
B3GNT5_chr3_183248253_183278385	183269230	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03209.hp1 HG03579.hp2 HG03139.hp1 HG03209.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0056 a0001c0001t0004g0165 a0001c0001t0004g0169 a0001c0001t0001g0056 a0001c0001t0004g0165 a0001c0001t0004g0169	3	390	0.0077	25	c.-30 others(42): Show c.-301-250_-301-249insTTTTTTTTTTTTTTTTTTTTTTTTT	B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar

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