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
NUP93_chr16_56725129_56855286	56808306	T T	TATATAGT others(39): Show TATATAGTTATATAACTATATAAAATATAGTTATATAACTATATAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	370	0.0027	46	c.489 others(63): Show c.489+2684_489+2685insATAACTATATAAAATATAGTTATATAAC TATATAAAATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808448	A A	ATAAAATA others(39): Show ATAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAAC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0369 a0001c0001t0027g0369	1	272	0.0037	46	c.489 others(63): Show c.489+2818_489+2819insAAATATATAGTTATGTAACTATATAAAA TATATAGTTATGTAACTA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808590	A A	ATATATAA others(39): Show ATATATAAATACATTTATATAAATATTTATAAATATATAAATACATT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp2 HG02818.hp2 others(2): Show HG02109.hp2 HG02615.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0247 a0001c0006t0009g0248 a0001c0006t0009g0249 others(2): Show a0001c0006t0009g0247 a0001c0006t0009g0248 a0001c0006t0009g0249 a0001c0006t0009g0250 a0001c0006t0009g0251	5	376	0.0133	46	c.489 others(63): Show c.489+2969_489+3014dupCATTTATATAAATATTTATAAATATATA AATACATTTATATAAATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56842141	T T	TTTTGGGG others(39): Show TTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTGTTA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	376	0.0027	46	c.234 others(63): Show c.2349+312_2349+313insGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGTGTTATTTG	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP98_chr11_3670019_3802554	3688820	C C	CATATACA others(39): Show CATATACATATATATATATATATATTTAAATATACATATACATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0320 a0001c0012t0001g0320	1	148	0.0068	46	c.445 others(65): Show c.4454+2526_4454+2527insATATATGTATATGTATATTTAAATAT ATATATATATATATGTATAT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	28/32			chr11	TogoVar
NUPR2_chr7_56109681_56121417	56115415	A A	ACACATAT others(39): Show ACACATATGTATATATATATATATATATATATACGTATATATATGTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	327	0.0031	46	c.7- others(59): Show c.7-519_*7-518insCACATATATATACGTATATATATATATATATA TATATACATATGTG	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115415	A A	ATACATAT others(39): Show ATACATATGTATATATATATATATATATATACGTATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	327	0.0031	46	c.7- others(59): Show c.7-519_*7-518insCACACATATATATACGTATATATATATATATA TATATACATATGTA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115435	G G	GTATATAT others(39): Show GTATATATATATATGTGTATATATATATGTGTATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19000.hp2 NA19003.hp1 NA18969.hp2 NA19000.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	3	64	0.0469	46	c.7- others(59): Show c.7-539_*7-538insAATATATATATATATACACATATATATATACA CATATATATATATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115437	G G	GTATATAT others(39): Show GTATATATATATATGTGTATATATATATGTGTATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp1 others(32): Show HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00544.hp1 HG00597.hp2 HG01109.hp2 HG01192.hp1 HG01928.hp1 HG02071.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02683.hp2 NA18947.hp2 NA18954.hp2 NA18960.hp1 NA18968.hp2 NA18971.hp1 NA18976.hp2 NA18981.hp2 NA18983.hp1 NA18987.hp2 NA18990.hp2 NA18997.hp2 NA18999.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19065.hp2 NA19077.hp1 NA19080.hp2 NA19085.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0046 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0046 a0001c0001t0001g0090 a0001c0001t0003g0091	35	224	0.1563	46	c.7- others(59): Show c.7-541_*7-540insAATATATATATATATACACATATATATATACA CATATATATATATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115625	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03017.hp1 NA18978.hp2 others(5): Show HG00673.hp2 HG03017.hp1 NA18978.hp2 NA18985.hp1 NA18989.hp1 NA19030.hp2 NA19076.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0019 a0001c0001t0001g0056 a0001c0001t0001g0123 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0056 a0001c0001t0001g0123 a0001c0001t0005g0124	8	121	0.0661	46	c.6+ others(59): Show c.6+389_*6+390insTATATATATATATATATATATATATATATATA TATATATATATATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115645	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	446	0.0022	46	c.6+ others(59): Show c.6+369_*6+370insAATATATATATATATATATATATATATATATA TATATATATATATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUTM2F_chr9_94313198_94333644	94313262	T T	TAAAATAT others(39): Show TAAAATATATTATATAATATATTATATATTATATAATATATTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0001 a0013c0027t0001	a0013c0027t0001g0108 a0013c0027t0001g0108	1	286	0.0035	46	c.52 others(57): Show c.5202_*5203insTATATAATATATTATATAATATATAATATATTAT ATAATATATTTT	NUTM2F	ENSG00000130950.15	transcript	ENST00000253262.9	protein_coding		4935		chr9	TogoVar
NUTM2F_chr9_94313198_94333644	94320619	G G	GTTGTGGG others(39): Show GTTGTGGGGAAGGTACTCTGAGCTGAGGAGTGAGGTATGTGGATGGT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0022 a0022	a0022c0024 a0022c0024	a0022c0024t0001 a0022c0024t0001	a0022c0024t0001g0070 a0022c0024t0001g0070	1	320	0.0031	46	c.983 others(59): Show c.983-27_983-26insACCATCCACATACCTCACTCCTCAGCTCAGAG TACCTTCCCCACAA	NUTM2F	ENSG00000130950.15	transcript	ENST00000253262.9	protein_coding	4/6			chr9	TogoVar
NXN_chr17_794310_984776	806142	G G	GCTCCCCA others(39): Show GCTCCCCAGGGCTGCAGCCCCCGCCGTCTGCACCCCAGCACAACCCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0208	1	181	0.0055	46	c.821 others(61): Show c.821-941_821-896dupGGGGTTGTGCTGGGGTGCAGACGGCGGGGG CTGCAGCCCTGGGGAG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
NXN_chr17_794310_984776	983611	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	19	0.0526	46	c.-39 others(57): Show c.-3934_-3933insGTGTGTGTGTATATATATATATATATATATATAT ATATATATATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding		3836		chr17	TogoVar
NYAP2_chr2_225394710_225708654	225597512	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA19068.hp2 HG03710.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0002 a0001c0002t0001 a0001c0005t0002	a0001c0002t0001g0036 a0001c0005t0002g0151 a0001c0002t0001g0036 a0001c0005t0002g0151	2	43	0.0465	46	c.161 others(67): Show c.1618+14495_1618+14496insATATATATATATATATATATATAT ATATATATATATATATATATAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYAP2_chr2_225394710_225708654	225655893	C C	CACACACA others(39): Show CACACACACACACACACACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0032 a0001c0001t0034g0032	1	190	0.0053	46	c.193 others(65): Show c.1932+4393_1932+4394insCACACACACATACACACACACACACA CACACACACACACACACACA	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0040 a0001c0008t0001g0040	1	13	0.0769	46	c.243 others(67): Show c.2432+20356_2432+20357insTATATATATATATATATATATATA TATATATAGAGAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0037 a0001c0008t0001g0037	1	13	0.0769	46	c.243 others(67): Show c.2432+20356_2432+20357insTATATATATATATATATATAGAGA GAGAGAGAGAGAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	13	0.0769	46	c.243 others(67): Show c.2432+20356_2432+20357insTATATATATATATATATAGAGAGA GAGAGAGAGAGAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0031 a0001c0008t0001g0031	1	13	0.0769	46	c.243 others(67): Show c.2432+20356_2432+20357insTATATATATATATATAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCEL1_chr19_17221226_17234219	17225440	C C	CCTCTCTC others(39): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	376	0.0027	46	c.-80 others(55): Show c.-808_-807insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCT	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		785		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	243	0.0041	46	c.-78 others(55): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATA TATATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG02071.hp2 NA18951.hp2 others(2): Show HG01975.hp1 HG02071.hp2 NA18951.hp2 NA18957.hp1 NA18960.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	5	247	0.0202	46	c.-78 others(55): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA TATATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02738.hp1 HG03225.hp1 others(2): Show HG00558.hp1 HG02738.hp1 HG03225.hp1 HG04115.hp1 NA18967.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	5	247	0.0202	46	c.-78 others(55): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TATATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCLN_chr5_69487790_69563104	69522590	C C	CAACAACG others(39): Show CAACAACGGAGGAGGAGGAAAAGAGAGAGATACACTAGATCGCGTGT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	288	0.0035	46	c.891 others(63): Show c.891+8481_891+8482insAACAACGGAGGAGGAGGAAAAGAGAGAG ATACACTAGATCGCGTGT	OCLN	ENSG00000197822.12	transcript	ENST00000396442.7	protein_coding	4/8			chr5	TogoVar
ODAD2_chr10_27807168_28004079	27923972	A A	AAGAAAGA others(39): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0036 a0003c0036	a0003c0036t0002 a0003c0036t0002	a0003c0036t0002g0253 a0003c0036t0002g0253	1	302	0.0033	46	c.249 others(67): Show c.2495+11037_2495+11038insCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTTTCTTTCTTTCTTTCT	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	16/19			chr10	TogoVar
ODAD3_chr19_11415605_11440121	11425217	A A	ATATGTAC others(39): Show ATATGTACATATGTGTATATGTACATATGTGTATATGTACATATGTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	388	0.0026	46	c.963 others(61): Show c.963+926_963+927insCACATATGTACATATACACATATGTACATA TACACATATGTACATA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODAD3_chr19_11415605_11440121	11425399	A A	ATGTGTGT others(39): Show ATGTGTGTATATGTACATATGTGTATATGTGTGTATATGTACATATG	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0033 a0004c0004t0001g0033	1	387	0.0026	46	c.963 others(61): Show c.963+744_963+745insCATATGTACATATACACACATATACACATA TGTACATATACACACA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODF3_chr11_191761_205258	191842	A A	ACCCTAAC others(39): Show ACCCTAACCCCTAACCCCTAACCCTAACCCTAACCCTAACCCCTAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG02647.hp2 others(1): Show HG02257.hp2 HG02486.hp2 HG02647.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	4	385	0.0104	46	c.-52 others(57): Show c.-5213_-5212insCCCTAACCCCTAACCCCTAACCCTAACCCTAACC CTAACCCCTAAC	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		4918		chr11	TogoVar
OLFM3_chr1_101797560_102001926	101991016	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	142	0.0070	46	c.69+ others(61): Show c.69+5731_69+5732insATATATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTTT	OLFM3	ENSG00000118733.17	transcript	ENST00000370103.9	protein_coding	1/5			chr1	TogoVar
OLFM3_chr1_101797560_102001926	101991016	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0177 a0001c0002t0001g0177	1	142	0.0070	46	c.69+ others(61): Show c.69+5731_69+5732insATATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTT	OLFM3	ENSG00000118733.17	transcript	ENST00000370103.9	protein_coding	1/5			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518277	G G	GAGGGGAG others(39): Show GAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00673.hp1 others(7): Show HG00438.hp2 HG00558.hp1 HG00673.hp1 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01192.hp1 HG01516.hp1 NA18956.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0006 a0001c0001t0001g0141 a0001c0001t0001g0152 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0141 a0001c0001t0001g0152 a0001c0001t0001g0178 a0001c0002t0002g0080 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0094 a0001c0002t0002g0104	10	223	0.0448	46	c.121 others(65): Show c.1215+8983_1215+8984insTCCTCTCCCCTCTCCCCTCTCCCCTC TCCCCTCTCCCCTCTCCCCT	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OPHN1_chrX_68037344_68438495	68370011	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	64	0.0156	46	c.154 others(65): Show c.154+62855_154+62856insATATATATATATATATATATATATAT ATATATATATATATATATAT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPN5_chr6_47777032_47831381	47819336	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19077.hp2 HG02145.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0210 a0001c0001t0004g0256 a0001c0001t0004g0210 a0001c0001t0004g0256	2	99	0.0202	46	c.105 others(65): Show c.1057-4630_1057-4629insTATATATATATATATATATATATATA TATATATATATATATATATA	OPN5	ENSG00000124818.16	transcript	ENST00000371211.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
OPRL1_chr20_64075082_64105633	64094144	G G	GGGCAGTG others(39): Show GGGCAGTGTGGGGGGCAGTGTGGGGGGCAGTGTGTGGGTCAGTGTGC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03579.hp1 HG02970.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0004	2	63	0.0317	46	c.233 others(63): Show c.233+1193_233+1194insCAGTGTGGGGGGCAGTGTGGGGGGCAGT GTGTGGGTCAGTGTGCGG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPRL1_chr20_64075082_64105633	64094144	G G	GGGCAGTG others(39): Show GGGCAGTGTGGGGGGCAGTGTGTGGGGCAGTGTGTGGGTCAGTGTGC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0013 a0001c0005t0006g0013	1	62	0.0161	46	c.233 others(63): Show c.233+1193_233+1194insCAGTGTGGGGGGCAGTGTGTGGGGCAGT GTGTGGGTCAGTGTGCGG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPRL1_chr20_64075082_64105633	64094196	G G	GCAGTGTG others(39): Show GCAGTGTGGGGGCAGTGTGTGGGTCAGTGTGCGGGCAGTGTGTGGGT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	44	0.0227	46	c.233 others(63): Show c.233+1261_233+1262insTGGGTCAGTGTGCGGGCAGTGTGTGGGT CAGTGTGGGGGCAGTGTG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPRL1_chr20_64075082_64105633	64094196	G G	GCAGTGTG others(39): Show GCAGTGTGGGGGCAGTGTGTGGGTCAGTGTGGGGGCAGTGTGTGGGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03490.hp2 HG03492.hp2 HG01433.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0046 a0001c0001t0002g0003 a0001c0001t0002g0046	3	46	0.0652	46	c.233 others(63): Show c.233+1261_233+1262insTGGGTCAGTGTGGGGGCAGTGTGTGGGT CAGTGTGGGGGCAGTGTG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPTN_chr10_13095163_13143308	13115253	T T	TTATATCT others(39): Show TTATATCTATATTTATATCTATATTTATATATATTTATAAATATAGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG03098.hp1 others(3): Show HG01884.hp1 HG02572.hp1 HG03098.hp1 HG03453.hp2 NA18522.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0006 a0002c0003t0001 a0002c0003t0002 a0001c0006t0006 a0002c0003t0001 a0002c0003t0002	a0001c0006t0006g0053 a0001c0006t0006g0093 a0002c0003t0001g0123 others(3): Show a0001c0006t0006g0053 a0001c0006t0006g0093 a0002c0003t0001g0123 a0002c0003t0002g0018 a0002c0003t0002g0019 a0002c0003t0002g0027	6	88	0.0682	46	c.553 others(61): Show c.553-997_553-996insCTATATTTATATATATTTATAAATATAGAT ATATCTATATTTATAT	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OR10G2_chr14_21628836_21639940	21637241	T T	TATATATA others(39): Show TATATATATATATATATATATACATATACATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	253	0.0040	46	c.-24 others(57): Show c.-2400_-2399insGTGTATATATATATATATGTATATGTATATATAT ATATATATATAT	OR10G2	ENSG00000255582.1	transcript	ENST00000542433.1	protein_coding		2302		chr14	TogoVar
OR10G7_chr11_124031013_124046325	124033057	C C	CTATATAT others(39): Show CTATATATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0004 a0004c0004t0002g0004	1	323	0.0031	46	c.50 others(57): Show c.5008_*5009insTATATATATATATATATATATATATATATATATA TATATATATATA	OR10G7	ENSG00000182634.9	transcript	ENST00000641585.1	protein_coding		2955		chr11	TogoVar
OR10G7_chr11_124031013_124046325	124033057	C C	CTCTATAT others(39): Show CTCTATATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0004 a0004c0004t0002g0004	1	323	0.0031	46	c.50 others(57): Show c.5008_*5009insTATATATATATATATATATATATATATATATATA TATATATATAGA	OR10G7	ENSG00000182634.9	transcript	ENST00000641585.1	protein_coding		2955		chr11	TogoVar
OR10G7_chr11_124031013_124046325	124033057	C C	CTCTCTCT others(39): Show CTCTCTCTATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0004 a0004c0004t0002g0004	1	323	0.0031	46	c.50 others(57): Show c.5008_*5009insTATATATATATATATATATATATATATATATATA TATATAGAGAGA	OR10G7	ENSG00000182634.9	transcript	ENST00000641585.1	protein_coding		2955		chr11	TogoVar
OR10G7_chr11_124031013_124046325	124033057	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0004 a0004c0004t0002g0004	1	323	0.0031	46	c.50 others(57): Show c.5008_*5009insTATATATATATATATATATATATATATATATATA GAGAGAGAGAGA	OR10G7	ENSG00000182634.9	transcript	ENST00000641585.1	protein_coding		2955		chr11	TogoVar
OR10G7_chr11_124031013_124046325	124033057	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0009 a0004c0004t0009	a0004c0004t0009g0013 a0004c0004t0009g0013	1	323	0.0031	46	c.50 others(57): Show c.5008_*5009insTATATATATATATATATATATATATATATATAGA GAGAGAGAGAGA	OR10G7	ENSG00000182634.9	transcript	ENST00000641585.1	protein_coding		2955		chr11	TogoVar
OR10G7_chr11_124031013_124046325	124033057	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0002 a0004c0014t0002	a0004c0014t0002g0022 a0004c0014t0002g0022	1	323	0.0031	46	c.50 others(57): Show c.5008_*5009insTATATATATATATATATATATATATATAGAGAGA GAGAGAGAGAGA	OR10G7	ENSG00000182634.9	transcript	ENST00000641585.1	protein_coding		2955		chr11	TogoVar
OR10G8_chr11_124021798_124035634	124033057	C C	CTATATAT others(39): Show CTATATATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	308	0.0032	46	c.24 others(57): Show c.2499_*2500insTATATATATATATATATATATATATATATATATA TATATATATATA	OR10G8	ENSG00000234560.5	transcript	ENST00000641224.2	protein_coding		2424		chr11	TogoVar
OR10G8_chr11_124021798_124035634	124033057	C C	CTCTATAT others(39): Show CTCTATATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	308	0.0032	46	c.24 others(57): Show c.2499_*2500insTCTATATATATATATATATATATATATATATATA TATATATATATA	OR10G8	ENSG00000234560.5	transcript	ENST00000641224.2	protein_coding		2424		chr11	TogoVar
OR10G8_chr11_124021798_124035634	124033057	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	308	0.0032	46	c.24 others(57): Show c.2499_*2500insTCTCTCTCTCTCTCTATATATATATATATATATA TATATATATATA	OR10G8	ENSG00000234560.5	transcript	ENST00000641224.2	protein_coding		2424		chr11	TogoVar

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