Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
OR51B4_chr11_5296014_5306946	5297378	C C	CCTCCCGC others(26): Show CCTCCCGCACCCCCCGCACACTCAACGCTAAGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	468	0.0021	33	c.36 others(44): Show c.3635_*3636insAACTTAGCGTTGAGTGTGCGGGGGGTGCGGGAG	OR51B4	ENSG00000183251.4	transcript	ENST00000380224.2	protein_coding		3635		chr11	TogoVar
OR51E1_chr11_4638982_4660488	4658294	T T	TGAACCCA others(26): Show TGAACCCAGCACTGAGAATGCAATGGAGAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	450	0.0022	33	c.48 others(44): Show c.4811_*4812insGAACCCAGCACTGAGAATGCAATGGAGAAAAAA	OR51E1	ENSG00000180785.10	transcript	ENST00000396952.6	protein_coding		2807		chr11	TogoVar
OR52N1_chr11_5781471_5796265	5794395	T T	TCTCCTCT others(26): Show TCTCCTCTCTCTCTCTCTCCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0007 a0002c0002t0004g0007	1	416	0.0024	33	c.-33 others(44): Show c.-3330_-3329insGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGGAG	OR52N1	ENSG00000181001.3	transcript	ENST00000641645.1	protein_coding		3131		chr11	TogoVar
OR6A2_chr11_6786736_6804689	6803777	A A	AGAGAAAT others(26): Show AGAGAAATATACAGAGAAGAGTTCATAAGATTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	458	0.0022	33	c.-44 others(44): Show c.-4411_-4410insCAAATCTTATGAACTCTTCTCTGTATATTTCTC	OR6A2	ENSG00000184933.6	transcript	ENST00000641196.1	protein_coding		4089		chr11	TogoVar
OR6J1_chr14_22625929_22649352	22636401	C C	CTCTCTCC others(26): Show CTCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	182	0.0055	33	c.-27 others(50): Show c.-27-1564_-27-1563insAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGA	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR7A10_chr19_14835466_14853922	14844664	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02071.hp1 HG01975.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0156 a0001c0002t0003g0176 a0001c0002t0003g0156 a0001c0002t0003g0176	2	39	0.0513	33	c.-12 others(50): Show c.-12-2776_-12-2775insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	OR7A10	ENSG00000127515.3	transcript	ENST00000641129.1	protein_coding	1/1			chr19	TogoVar
ORC5_chr7_104121341_104213013	104210859	A A	AACAGTGC others(26): Show AACAGTGCAGCTGTACCGGAGCAGATCGTCGACT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	364	0.0027	33	c.-29 others(44): Show c.-2956_-2955insAGTCGACGATCTGCTCCGGTACAGCTGCACTGT	ORC5	ENSG00000164815.11	transcript	ENST00000297431.9	protein_coding		2847		chr7	TogoVar
OSBPL10_chr3_31655825_31986262	31948420	C C	CCTCCCAA others(26): Show CCTCCCAAGTAACTGGGTTTATTGTTCCCTATTG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0027 a0002c0005t0002g0027	1	184	0.0054	33	c.281 others(52): Show c.281+32446_281+32478dupCAATAGGGAACAATAAACCCAGTTAC TTGGGAG	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	1/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31965547	T T	TATATAAT others(26): Show TATATAATATATTATATAAATTATATATTATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG01256.hp1 others(8): Show HG00099.hp1 HG00639.hp2 HG01256.hp1 HG01258.hp1 HG01516.hp2 HG02258.hp1 HG02622.hp1 HG03225.hp1 HG03579.hp1 NA19043.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0025 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0006t0002 a0001c0025t0002 a0002c0003t0001	a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0150 others(8): Show a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0006t0001g0149 a0001c0006t0002g0124 a0001c0025t0002g0147 a0002c0003t0001g0127	11	107	0.1028	33	c.281 others(52): Show c.281+15351_281+15352insTATATAATATATAATTTATATAATAT ATTATAT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	1/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31965654	T T	TATATAAT others(26): Show TATATAATATATTATATAAATTATATATTATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp2 HG02717.hp1 others(5): Show HG01891.hp2 HG02615.hp2 HG02717.hp1 HG02922.hp1 HG03041.hp1 HG03579.hp2 HG06807.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0028 a0001c0001 a0001c0028	a0001c0001t0001 a0001c0001t0002 a0001c0028t0001 a0001c0001t0001 a0001c0001t0002 a0001c0028t0001	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 others(5): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0091 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0028t0001g0093	8	169	0.0473	33	c.281 others(52): Show c.281+15244_281+15245insTATATAATATATAATTTATATAATAT ATTATAT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	1/11			chr3	TogoVar
OSBPL1A_chr18_24157052_24402824	24315786	A A	AATATAAT others(26): Show AATATAATATATACTATATATTATATAATAAAAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0171 a0001c0002t0004g0171	1	114	0.0088	33	c.870 others(50): Show c.870+1362_870+1363insATTTTATTATATAATATATAGTATATAT TATAT	OSBPL1A	ENSG00000141447.19	transcript	ENST00000319481.8	protein_coding	11/27			chr18	TogoVar
OSBPL1A_chr18_24157052_24402824	24315786	A A	AATATAAT others(26): Show AATATAATATATAGTATATATTATATAATAAAAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02071.hp1 NA20905.hp1 HG00673.hp2 HG02071.hp1 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0014 a0001c0001 a0006c0014	a0001c0001t0002 a0006c0014t0002 a0001c0001t0002 a0006c0014t0002	a0001c0001t0002g0025 a0001c0001t0002g0113 a0006c0014t0002g0110 a0001c0001t0002g0025 a0001c0001t0002g0113 a0006c0014t0002g0110	3	116	0.0259	33	c.870 others(50): Show c.870+1330_870+1362dupATTTTATTATATAATATATACTATATAT TATAT	OSBPL1A	ENSG00000141447.19	transcript	ENST00000319481.8	protein_coding	11/27			chr18	TogoVar
OSBPL3_chr7_24791540_24985178	24917403	T T	TATATATA others(26): Show TATATATATATATATATATATATATATTTGTAAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG04199.hp2 NA18981.hp2 HG00597.hp2 HG04199.hp2 NA18981.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0009 a0001c0001 a0001c0002 a0006c0009	a0001c0001t0001 a0001c0002t0001 a0006c0009t0001 a0001c0001t0001 a0001c0002t0001 a0006c0009t0001	a0001c0001t0001g0143 a0001c0002t0001g0148 a0006c0009t0001g0130 a0001c0001t0001g0143 a0001c0002t0001g0148 a0006c0009t0001g0130	3	319	0.0094	33	c.-14 others(54): Show c.-149-24783_-149-24782insGTTACAAATATATATATATATATA TATATATAT	OSBPL3	ENSG00000070882.13	transcript	ENST00000313367.7	protein_coding	1/22			chr7	TogoVar
OSBPL3_chr7_24791540_24985178	24917405	T T	TATATATA others(26): Show TATATATATATATATATATATATATATTTGTAAC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0074	1	323	0.0031	33	c.-14 others(54): Show c.-149-24785_-149-24784insGTTACAAATATATATATATATATA TATATATAT	OSBPL3	ENSG00000070882.13	transcript	ENST00000313367.7	protein_coding	1/22			chr7	TogoVar
OSCAR_chr19_54089668_54105803	54089940	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG03225.hp1 NA18973.hp2 others(2): Show HG01071.hp1 HG03225.hp1 NA18973.hp2 NA19002.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0028 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0066 a0001c0001t0001g0086	5	16	0.3125	33	c.52 others(44): Show c.5280_*5281insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	OSCAR	ENSG00000170909.14	transcript	ENST00000358375.9	protein_coding		4727		chr19	TogoVar
OSER1_chr20_44190939_44215771	44215754	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0040 a0002c0002t0040	a0002c0002t0040g0194 a0002c0002t0040g0194	1	348	0.0029	33	c.-51 others(44): Show c.-5101_-5100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	OSER1	ENSG00000132823.11	transcript	ENST00000255174.3	protein_coding		4984		chr20	TogoVar
OSGEPL1_chr2_189741660_189767792	189744990	T T	TCTACTAC others(26): Show TCTACTACTACTACTACTACTACTACTACTACTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01261.hp2 others(9): Show HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01943.hp1 HG01981.hp1 HG02273.hp2 HG02622.hp2 HG02976.hp2 HG03041.hp2 NA18951.hp2 NA18983.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0086 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0086 a0001c0001t0001g0091 a0002c0003t0001g0010	12	105	0.1143	33	c.21 others(44): Show c.2174_*2206dupTAGTAGTAGTAGTAGTAGTAGTAGTAGTAGTAG	OSGEPL1	ENSG00000128694.12	transcript	ENST00000264151.10	protein_coding		1669		chr2	TogoVar
OSGEPL1_chr2_189741660_189767792	189745027	C C	CTACTACT others(26): Show CTACTACTACTACTAATAATAATAATAATAATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0113 a0001c0002t0002g0113	1	43	0.0233	33	c.21 others(44): Show c.2169_*2170insTTATTATTATTATTATTATTAGTAGTAGTAGTA	OSGEPL1	ENSG00000128694.12	transcript	ENST00000264151.10	protein_coding		1632		chr2	TogoVar
OSGEPL1_chr2_189741660_189767792	189745027	C C	CTACTACT others(26): Show CTACTACTACTACTACTACTAATAATAATAATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	43	0.0233	33	c.21 others(44): Show c.2169_*2170insTTATTATTATTATTAGTAGTAGTAGTAGTAGTA	OSGEPL1	ENSG00000128694.12	transcript	ENST00000264151.10	protein_coding		1632		chr2	TogoVar
OSGEPL1_chr2_189741660_189767792	189745027	C C	CTACTACT others(26): Show CTACTACTACTACTACTACTACTAATAATAATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG03834.hp1 HG02486.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	2	44	0.0455	33	c.21 others(44): Show c.2169_*2170insTTATTATTATTAGTAGTAGTAGTAGTAGTAGTA	OSGEPL1	ENSG00000128694.12	transcript	ENST00000264151.10	protein_coding		1632		chr2	TogoVar
OSGEPL1_chr2_189741660_189767792	189745027	C C	CTACTACT others(26): Show CTACTACTACTACTACTACTACTACTAATAATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0075 a0001c0002t0002g0075	1	43	0.0233	33	c.21 others(44): Show c.2169_*2170insTTATTATTAGTAGTAGTAGTAGTAGTAGTAGTA	OSGEPL1	ENSG00000128694.12	transcript	ENST00000264151.10	protein_coding		1632		chr2	TogoVar
OSGEPL1_chr2_189741660_189767792	189745027	C C	CTACTACT others(26): Show CTACTACTACTACTACTACTACTACTACTACTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	43	0.0233	33	c.21 others(44): Show c.2169_*2170insTTAGTAGTAGTAGTAGTAGTAGTAGTAGTAGTA	OSGEPL1	ENSG00000128694.12	transcript	ENST00000264151.10	protein_coding		1632		chr2	TogoVar
OSMR_chr5_38841012_38940641	38861941	A A	AGTAGGGG others(26): Show AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00597.hp2 others(30): Show HG00408.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG02027.hp1 HG02040.hp2 HG02132.hp2 HG02559.hp1 NA18942.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp2 NA18961.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp2 NA18988.hp2 NA18993.hp1 NA18995.hp1 NA19000.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19077.hp2 NA19080.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0002 a0002c0002t0001 a0002c0006t0001 others(1): Show a0001c0001t0002 a0002c0002t0001 a0002c0006t0001 a0002c0006t0030	a0001c0001t0002g0061 a0001c0001t0002g0066 a0001c0001t0002g0074 others(24): Show a0001c0001t0002g0061 a0001c0001t0002g0066 a0001c0001t0002g0074 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0083 a0002c0002t0001g0088 a0002c0006t0001g0001 a0002c0006t0001g0003 a0002c0006t0001g0007 a0002c0006t0001g0054 a0002c0006t0001g0057 a0002c0006t0001g0063 a0002c0006t0001g0067 a0002c0006t0001g0068 a0002c0006t0001g0069 a0002c0006t0030g0055	33	379	0.0871	33	c.-13 others(50): Show c.-13-7091_-13-7090insGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCT	OSMR	ENSG00000145623.13	transcript	ENST00000274276.8	protein_coding	1/17			chr5	TogoVar
OSTF1_chr9_75083514_75152265	75128581	C C	CATATATA others(26): Show CATATATATATATATATATATATTTTGTCCATAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	325	0.0031	33	c.132 others(48): Show c.132+984_132+985insTTTGTCCATATATATATATATATATATATA TAT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75139027	C C	CTTTCTTT others(26): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01952.hp2 HG01516.hp1 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0040 a0001c0001t0006g0318 a0001c0001t0006g0040 a0001c0001t0006g0318	2	223	0.0090	33	c.487 others(50): Show c.487+1413_487+1414insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTOA_chr16_21658968_21765729	21695891	A A	ATATATAT others(26): Show ATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	75	0.0133	33	c.740 others(50): Show c.740-1883_740-1882insATATATATATATATATTTTTTTTTTTTT TTTTT	OTOA	ENSG00000155719.18	transcript	ENST00000646100.2	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr16	TogoVar
OTOP1_chr4_4183726_4231929	4226366	G G	GGGAAGAC others(26): Show GGGAAGACGGCAGCGGTAGGAAGGGCGCAGAGCA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0354 a0001c0001t0001g0354	1	426	0.0023	33	c.403 others(46): Show c.403+63_403+95dupTGCTCTGCGCCCTTCCTACCGCTGCCGTCTTC C	OTOP1	ENSG00000163982.6	transcript	ENST00000296358.5	protein_coding	1/5			chr4	TogoVar
OTUD1_chr10_23434075_23447377	23434898	C C	CTGATGAT others(26): Show CTGATGATGATGATGATGATGATGATGATGATGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG03225.hp2 NA19010.hp2 others(1): Show HG01192.hp2 HG03225.hp2 NA19010.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0000 a0001c0002t0002g0000 a0001c0001t0003g0000 a0001c0002t0002g0000	4	383	0.0104	33	c.-45 others(44): Show c.-4560_-4559insTGATGATGATGATGATGATGATGATGATGATGA	OTUD1	ENSG00000165312.7	transcript	ENST00000376495.5	protein_coding		4176		chr10	TogoVar
OTUD1_chr10_23434075_23447377	23434900	G G	GATGATGA others(26): Show GATGATGATGATGATGATGATGATGATGATTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02145.hp2 others(9): Show HG01884.hp2 HG01891.hp2 HG02145.hp2 HG02280.hp1 HG02451.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03098.hp1 HG03139.hp1 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0011 a0001c0003t0004 a0001c0003t0011	a0001c0003t0004g0000 a0001c0003t0011g0000 a0001c0003t0004g0000 a0001c0003t0011g0000	12	368	0.0326	33	c.-45 others(44): Show c.-4558_-4557insATGATGATGATGATGATGATGATGATGATTATT	OTUD1	ENSG00000165312.7	transcript	ENST00000376495.5	protein_coding		4174		chr10	TogoVar
OTUD1_chr10_23434075_23447377	23434900	G G	GATGATGA others(26): Show GATGATGATGATGATGATGATGATGATTATTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG03453.hp2 HG06807.hp2 others(1): Show HG02922.hp1 HG03453.hp2 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0000 a0001c0003t0004g0000	4	360	0.0111	33	c.-45 others(44): Show c.-4558_-4557insATGATGATGATGATGATGATGATGATTATTATT	OTUD1	ENSG00000165312.7	transcript	ENST00000376495.5	protein_coding		4174		chr10	TogoVar
OTUD7A_chr15_31470398_31875673	31564387	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01975.hp2 HG02486.hp1 others(2): Show HG01071.hp1 HG01975.hp2 HG02486.hp1 HG04115.hp2 NA18962.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0007 a0001c0001 a0002c0003 a0002c0007	a0001c0001t0004 a0001c0001t0015 a0002c0003t0003 others(2): Show a0001c0001t0004 a0001c0001t0015 a0002c0003t0003 a0002c0003t0077 a0002c0007t0003	a0001c0001t0004g0072 a0001c0001t0015g0175 a0002c0003t0003g0076 others(2): Show a0001c0001t0004g0072 a0001c0001t0015g0175 a0002c0003t0003g0076 a0002c0003t0077g0144 a0002c0007t0003g0159	5	163	0.0307	33	c.332 others(50): Show c.332-5201_332-5200insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	4/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31753702	T T	TATTATAT others(26): Show TATTATATATATATATATATTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0133 a0001c0001t0004g0133	1	206	0.0049	33	c.-99 others(52): Show c.-99-96626_-99-96625insTATATATATATATAATATATATATAT ATATAAT	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	1/12			chr15	TogoVar
OXR1_chr8_106265190_106757694	106694457	T T	TAATATAT others(26): Show TAATATATATAAATATATTTTTATATATATTTAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0060 a0001c0001t0001g0061	2	168	0.0119	33	c.675 others(50): Show c.675+1580_675+1581insAATATATATAAATATATTTTTATATATA TTTAA	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	7/16			chr8	TogoVar
OXSR1_chr3_38160537_38260484	38161669	C C	CATATGTC others(26): Show CATATGTCATATATTATGTATATTTCATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02622.hp2 HG03139.hp2 HG00544.hp1 HG02622.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0110 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0110	3	119	0.0252	33	c.-42 others(44): Show c.-4208_-4207insATATGTCATATATTATGTATATTTCATATACAT	OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding		3867		chr3	TogoVar
P2RX2_chr12_132613776_132627388	132618232	A A	AGAAAGAA others(26): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG03688.hp1 HG00140.hp2 HG00741.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0001 a0001c0001t0001g0012	3	172	0.0174	33	c.-58 others(42): Show c.-585_-584insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	P2RX2	ENSG00000187848.15	transcript	ENST00000643471.2	protein_coding		543		chr12	TogoVar
P2RX4_chr12_121205129_121239106	121212824	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0217 a0001c0004t0001g0217	1	47	0.0213	33	c.134 others(50): Show c.134+2527_134+2528insATATATATATATATATATATATATATAT TTTTT	P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX4_chr12_121205129_121239106	121212824	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0033 a0001c0004t0001g0033	1	47	0.0213	33	c.134 others(50): Show c.134+2527_134+2528insATATATATATATATATATATATATTTTT TTTTT	P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX4_chr12_121205129_121239106	121212824	A A	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18995.hp1 HG02109.hp1 NA18995.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0003t0001 a0001c0004t0001	a0001c0003t0001g0287 a0001c0004t0001g0216 a0001c0003t0001g0287 a0001c0004t0001g0216	2	48	0.0417	33	c.134 others(50): Show c.134+2527_134+2528insATATATATATATATATATATTTTTTTTT TTTTT	P2RX4	ENSG00000135124.16	transcript	ENST00000337233.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0286 a0002c0002t0001g0286	1	41	0.0244	33	c.125 others(50): Show c.125+2929_125+2930insAAAAAAAAAAAAAAAAATATATATATAT ATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19091.hp1 HG00438.hp1 NA19091.hp1	a0005 a0008 a0005 a0008	a0005c0006 a0008c0007 a0005c0006 a0008c0007	a0005c0006t0001 a0008c0007t0002 a0005c0006t0001 a0008c0007t0002	a0005c0006t0001g0289 a0008c0007t0002g0288 a0005c0006t0001g0289 a0008c0007t0002g0288	2	42	0.0476	33	c.125 others(50): Show c.125+2929_125+2930insAAAAAAAAAAAAAAATATATATATATAT ATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18943.hp1 HG03831.hp1 NA18943.hp1	a0007 a0029 a0007 a0029	a0007c0008 a0029c0047 a0007c0008 a0029c0047	a0007c0008t0001 a0029c0047t0001 a0007c0008t0001 a0029c0047t0001	a0007c0008t0001g0303 a0029c0047t0001g0304 a0007c0008t0001g0303 a0029c0047t0001g0304	2	42	0.0476	33	c.125 others(50): Show c.125+2929_125+2930insAAAAAAAAAAAAATATATATATATATAT ATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03942.hp2 NA18959.hp2 others(1): Show HG00741.hp2 HG03942.hp2 NA18959.hp2 NA18985.hp1	a0002 a0007 a0008 a0002 a0007 a0008	a0002c0002 a0007c0008 a0008c0007 a0002c0002 a0007c0008 a0008c0007	a0002c0002t0003 a0007c0008t0001 a0008c0007t0002 a0002c0002t0003 a0007c0008t0001 a0008c0007t0002	a0002c0002t0003g0323 a0007c0008t0001g0325 a0008c0007t0002g0324 others(1): Show a0002c0002t0003g0323 a0007c0008t0001g0325 a0008c0007t0002g0324 a0008c0007t0002g0326	4	44	0.0909	33	c.125 others(50): Show c.125+2929_125+2930insAAAAAAAAAAATATATATATATATATAT ATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX7_chr12_121127876_121193032	121136023	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18977.hp1 HG02965.hp1 NA18977.hp1	a0005 a0005	a0005c0006 a0005c0038 a0005c0006 a0005c0038	a0005c0006t0001 a0005c0038t0003 a0005c0006t0001 a0005c0038t0003	a0005c0006t0001g0339 a0005c0038t0003g0340 a0005c0006t0001g0339 a0005c0038t0003g0340	2	42	0.0476	33	c.125 others(50): Show c.125+2929_125+2930insAAAAAAAAATATATATATATATATATAT ATATA	P2RX7	ENSG00000089041.17	transcript	ENST00000328963.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RY10_chrX_78940391_78968727	78965684	T T	TTTCCTTC others(26): Show TTTCCTTCTTTCCTTCCTTTCTTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	320	0.0031	33	c.41 others(44): Show c.4144_*4145insTTCCTTCTTTCCTTCCTTTCTTTCCTTCCTTCC	P2RY10	ENSG00000078589.13	transcript	ENST00000171757.3	protein_coding		1958		chrX	TogoVar
P3H3_chr12_6823407_6844847	6827993	T T	TGGGAGTG others(26): Show TGGGAGTGCAGGGGTGGATGAGTGTGGGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0015 a0015	a0015c0032 a0015c0032	a0015c0032t0005 a0015c0032t0005	a0015c0032t0005g0046 a0015c0032t0005g0046	1	206	0.0049	33	c.-44 others(42): Show c.-448_-447insGGGAGTGCAGGGGTGGATGAGTGTGGGGGGGTG	P3H3	ENSG00000110811.20	transcript	ENST00000290510.10	protein_coding		413		chr12	TogoVar
P4HB_chr17_81838166_81865535	81844249	C C	CACCTGGA others(26): Show CACCTGGAGCAGCCAACCCTGGTCTTTACGAGCT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0157 a0001c0003t0009g0157	1	372	0.0027	33	c.144 others(50): Show c.1447-158_1447-157insAGCTCGTAAAGACCAGGGTTGGCTGCTC CAGGT	P4HB	ENSG00000185624.16	transcript	ENST00000331483.9	protein_coding	10/10			chr17	TogoVar
PABPC1L_chr20_44905060_44944316	44937030	G G	GTAAGTAA others(26): Show GTAAGTAATATTTTTTATTATGTTATTTATATTT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0203 a0002c0002t0002g0203	1	394	0.0025	33	c.166 others(50): Show c.1660+302_1660+303insAGTAATATTTTTTATTATGTTATTTATA TTTTA	PABPC1L	ENSG00000101104.13	transcript	ENST00000217073.7	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
PABPC4_chr1_39555816_39581790	39558101	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	13	0.0769	33	c.30 others(44): Show c.3034_*3035insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PABPC4	ENSG00000090621.15	transcript	ENST00000372858.8	protein_coding		2714		chr1	TogoVar
PABPC4_chr1_39555816_39581790	39573075	T T	TTTCAGTG others(26): Show TTTCAGTGAGGTATTGCATCAAAGTTATCAAGTC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	372	0.0027	33	c.194 others(48): Show c.194-522_194-490dupGACTTGATAACTTTGATGCAATACCTCACT GAA	PABPC4	ENSG00000090621.15	transcript	ENST00000372858.8	protein_coding	1/15			chr1	TogoVar
PABPC4_chr1_39555816_39581790	39580918	G G	GGCGTTTT others(26): Show GGCGTTTTTTTATTTGTTATTCTTTTTTTATCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	372	0.0027	33	c.-49 others(44): Show c.-4968_-4967insAAGATAAAAAAAGAATAACAAATAAAAAAACGC	PABPC4	ENSG00000090621.15	transcript	ENST00000372858.8	protein_coding		4129		chr1	TogoVar

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