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
MATN3_chr2_19987052_20017668	20010067	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0253 a0001c0002t0002g0253	1	432	0.0023	22	c.223 others(39): Show c.223+2320_223+2341dupTTTTTTTTTTTTTTTTTTTTTT	MATN3	ENSG00000132031.13	transcript	ENST00000407540.8	protein_coding	1/7			chr2	TogoVar
MATN4_chr20_45288450_45313299	45305802	A A	ATGCTTTT others(15): Show ATGCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	422	0.0024	22	c.-34 others(37): Show c.-34-187_-34-186insAAAAAAAAAAAAAAAAAAAGCA	MATN4	ENSG00000124159.17	transcript	ENST00000372756.6	protein_coding	1/9			chr20	TogoVar
MATN4_chr20_45288450_45313299	45305805	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG01168.hp1 others(19): Show HG00423.hp1 HG00423.hp2 HG01168.hp1 HG01358.hp1 HG02602.hp1 HG02698.hp1 HG03688.hp1 NA18940.hp1 NA18962.hp1 NA18972.hp2 NA18973.hp1 NA18985.hp1 NA18997.hp1 NA18999.hp1 NA19000.hp2 NA19010.hp1 NA19012.hp1 NA19064.hp2 NA19072.hp1 NA19079.hp2 NA19085.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0036 a0001c0001t0001g0037 others(9): Show a0001c0001t0001g0002 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0003c0002t0001g0231 a0003c0002t0001g0232	22	422	0.0521	22	c.-34 others(37): Show c.-34-190_-34-189insAAAAAAAAAAAAAAAAAAAAAA	MATN4	ENSG00000124159.17	transcript	ENST00000372756.6	protein_coding	1/9			chr20	TogoVar
MAU2_chr19_19315829_19363754	19356452	A A	AACACGGG others(15): Show AACACGGGTGTGCATGTGGATGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0069 a0001c0001t0033g0069	1	344	0.0029	22	c.68 others(31): Show c.683_*704dupATGTGGATGCACACGGGTGTGC	MAU2	ENSG00000129933.21	transcript	ENST00000262815.13	protein_coding	19/19	705	INFO_REALIGN_3_PRIME	chr19	TogoVar
MAVS_chr20_3841834_3881118	3851990	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0018 a0006c0008t0018	a0006c0008t0018g0300 a0006c0008t0018g0300	1	420	0.0024	22	c.-67 others(39): Show c.-67-2551_-67-2550insTTTTTTTTTTTTTTTTTTTTTT	MAVS	ENSG00000088888.18	transcript	ENST00000428216.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
MBD2_chr18_54146606_54229669	54168572	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 NA18979.hp1 HG03491.hp2 HG03492.hp2 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0017 a0002c0002t0004 a0002c0002t0017	a0002c0002t0004g0276 a0002c0002t0004g0277 a0002c0002t0017g0264 a0002c0002t0004g0276 a0002c0002t0004g0277 a0002c0002t0017g0264	3	300	0.0100	22	c.841 others(39): Show c.841-2428_841-2407dupATATATATATATATATATATAT	MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding	3/6			chr18	TogoVar
MBD2_chr18_54146606_54229669	54226998	A A	AATATATA others(15): Show AATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0262 a0002c0002t0036g0262	1	300	0.0033	22	c.-24 others(33): Show c.-2440_-2439insATATATATATATATATATATAT	MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding		2330		chr18	TogoVar
MBD3L3_chr19_7051207_7063676	7062377	T T	TTATATTA others(15): Show TTATATTATAATATATAATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	288	0.0035	22	c.-37 others(33): Show c.-3794_-3773dupTATAATTATATATTATAATATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3702		chr19	TogoVar
MBD5_chr2_148016091_148521971	148180343	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01978.hp2 HG02258.hp1 others(6): Show HG00642.hp2 HG01978.hp2 HG02258.hp1 HG02280.hp1 HG02622.hp2 HG03486.hp2 NA18977.hp1 NA18984.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017	a0001c0001t0001g0020 a0001c0001t0001g0064 a0001c0001t0002g0012 others(6): Show a0001c0001t0001g0020 a0001c0001t0001g0064 a0001c0001t0002g0012 a0001c0001t0003g0026 a0001c0001t0003g0073 a0001c0001t0006g0160 a0001c0001t0011g0114 a0001c0001t0013g0081 a0001c0001t0017g0079	9	188	0.0479	22	c.-83 others(41): Show c.-831+1568_-831+1569insATATATATATATATATATATAT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148224509	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	188	0.0053	22	c.-83 others(41): Show c.-830-8726_-830-8705dupTTTTTTTTTTTTTTTTTTTTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148239686	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA19007.hp2 HG00323.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0059 a0001c0001t0004g0143 a0001c0001t0003g0059 a0001c0001t0004g0143	2	188	0.0106	22	c.-68 others(41): Show c.-680+6303_-680+6324dupCACACACACACACACACACACA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148288399	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01123.hp1 HG01123.hp2 others(12): Show HG00323.hp2 HG01123.hp1 HG01123.hp2 HG01517.hp2 HG01884.hp2 HG02129.hp1 HG02300.hp1 HG03491.hp2 HG04204.hp1 NA18972.hp2 NA18977.hp2 NA19003.hp1 NA19010.hp2 NA19065.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0016 a0001c0001t0024 a0001c0002t0003	a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0058 others(12): Show a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0167 a0001c0001t0003g0059 a0001c0001t0004g0046 a0001c0001t0010g0033 a0001c0001t0016g0139 a0001c0001t0024g0105 a0001c0002t0003g0100	15	188	0.0798	22	c.-67 others(43): Show c.-679-53800_-679-53799insAAAAAAAAAAAAAAAAAAAAAA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148294501	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02976.hp1 NA20300.hp2 HG00735.hp2 HG02976.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0025 a0001c0001t0002 a0001c0001t0006 a0001c0001t0025	a0001c0001t0002g0008 a0001c0001t0006g0112 a0001c0001t0025g0181 a0001c0001t0002g0008 a0001c0001t0006g0112 a0001c0001t0025g0181	3	188	0.0160	22	c.-67 others(43): Show c.-679-47693_-679-47692insTTTTTTTTTTTTTTTTTTTTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148296864	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0079 a0001c0001t0017g0079	1	188	0.0053	22	c.-67 others(43): Show c.-679-45330_-679-45329insTTTTTTTTTTTTTTTTTTTTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148330088	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01243.hp2 others(7): Show HG00642.hp1 HG00741.hp2 HG01243.hp2 HG02300.hp2 HG02683.hp1 HG04204.hp1 NA18943.hp2 NA18980.hp1 NA18988.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0013 a0001c0001 a0002c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0002c0013t0002	a0001c0001t0001g0037 a0001c0001t0001g0062 a0001c0001t0001g0063 others(7): Show a0001c0001t0001g0037 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0002g0022 a0001c0001t0002g0051 a0001c0001t0002g0099 a0001c0001t0009g0115 a0002c0013t0002g0025	10	188	0.0532	22	c.-67 others(43): Show c.-679-12117_-679-12096dupACACACACACACACACACACAC	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148330115	A A	ACACACAC others(15): Show ACACACACACACACACACACACT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03669.hp1 NA18984.hp1 others(2): Show HG00642.hp2 HG03669.hp1 NA18984.hp1 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0013	a0001c0001t0002g0055 a0001c0001t0002g0082 a0001c0001t0003g0026 others(2): Show a0001c0001t0002g0055 a0001c0001t0002g0082 a0001c0001t0003g0026 a0001c0001t0011g0114 a0001c0001t0013g0081	5	188	0.0266	22	c.-67 others(43): Show c.-679-12096_-679-12095insACACACACACACACACACTCAC	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBNL1_chr3_152263929_152470780	152286412	T T	TTATATTT others(15): Show TTATATTTTATTTATAATATAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	338	0.0030	22	c.-78 others(43): Show c.-789-12989_-789-12968dupATTTTATTTATAATATAAATAT	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL1_chr3_152263929_152470780	152286438	T T	TTATATTT others(15): Show TTATATTTTATTTATAATATAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00738.hp1 HG01891.hp2 others(10): Show HG00558.hp2 HG00738.hp1 HG01891.hp2 HG02080.hp1 HG02135.hp1 HG02293.hp1 HG02895.hp1 HG03098.hp1 NA18951.hp2 NA18955.hp1 NA18957.hp1 NA18962.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0050 a0001c0001t0001g0051 others(10): Show a0001c0001t0001g0035 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0333	13	338	0.0385	22	c.-78 others(43): Show c.-789-12919_-789-12898dupATTTTATTTATAATATAAATAT	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL1_chr3_152263929_152470780	152443485	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02572.hp2 NA18952.hp2 others(3): Show HG02273.hp1 HG02572.hp2 NA18952.hp2 NA18955.hp1 NA18988.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0035 a0001c0001t0001g0154 a0001c0001t0001g0217 others(3): Show a0001c0001t0001g0035 a0001c0001t0001g0154 a0001c0001t0001g0217 a0001c0001t0001g0308 a0001c0001t0002g0027 a0001c0001t0002g0316	6	338	0.0178	22	c.550 others(39): Show c.550-1795_550-1774dupCACACACACACACACACACACA	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL2_chr13_97217333_97399120	97291900	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0112 a0001c0001t0004g0112	1	254	0.0039	22	c.174 others(41): Show c.174+15508_174+15509insAAAAAAAAAAAAAAAAAAAAAA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97388314	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	254	0.0039	22	c.104 others(41): Show c.1049-3007_1049-2986dupATATATATATATATATATATAT	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL3_chrX_132364320_132494038	132396524	A A	ATATATAT others(15): Show ATATATATTCCTATATATATTCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp1 HG02647.hp1 others(1): Show HG01884.hp1 HG02622.hp1 HG02647.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0035 a0001c0001t0005 a0001c0001t0035	a0001c0001t0005g0100 a0001c0001t0005g0102 a0001c0001t0005g0143 others(1): Show a0001c0001t0005g0100 a0001c0001t0005g0102 a0001c0001t0005g0143 a0001c0001t0035g0189	4	191	0.0209	22	c.343 others(39): Show c.343-4191_343-4190insGGAATATATATAGGAATATATA	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396558	A A	ATATATAT others(15): Show ATATATATTCATATATATATTCC	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19082.hp1 HG02976.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0012 a0001c0001t0011 a0001c0001t0012	a0001c0001t0011g0145 a0001c0001t0012g0070 a0001c0001t0011g0145 a0001c0001t0012g0070	2	191	0.0105	22	c.343 others(39): Show c.343-4225_343-4224insGGAATATATATATGAATATATA	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396797	C C	CATATATA others(15): Show CATATATACATATATATATTCAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0002 a0001c0001t0043g0002	1	191	0.0052	22	c.343 others(39): Show c.343-4464_343-4463insATGAATATATATATGTATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396797	C C	CATATATA others(15): Show CATATATATATTCATATATACAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03579.hp1 HG03130.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0165 a0001c0001t0015g0166 a0001c0001t0015g0165 a0001c0001t0015g0166	2	191	0.0105	22	c.343 others(39): Show c.343-4464_343-4463insATGTATATATGAATATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBOAT1_chr6_20094684_20217469	20111805	C C	CATATATA others(15): Show CATATATATACATATATATACAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01258.hp2 others(6): Show HG01167.hp2 HG01169.hp2 HG01258.hp2 HG01433.hp2 HG01516.hp2 HG02602.hp1 HG03669.hp1 NA18955.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013	a0001c0001t0001g0065 a0001c0001t0001g0201 a0001c0001t0001g0228 others(6): Show a0001c0001t0001g0065 a0001c0001t0001g0201 a0001c0001t0001g0228 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0055 a0001c0001t0008g0103 a0001c0001t0012g0240 a0001c0001t0013g0029	9	336	0.0268	22	c.120 others(41): Show c.1209+1049_1209+1070dupATGTATATATATGTATATATAT	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	11/12			chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20111870	A A	ATATATAT others(15): Show ATATATATATACATATATATACG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0299 a0001c0001t0062g0299	1	336	0.0030	22	c.120 others(41): Show c.1209+1005_1209+1006insCGTATATATATGTATATATATA	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	11/12			chr6	TogoVar
MBP_chr18_76973833_77137783	76975154	C C	CCTTTTCT others(15): Show CCTTTTCTTTTCTTTTCTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp2 NA18969.hp1 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0230 a0001c0002t0002g0265 a0001c0002t0002g0230 a0001c0002t0002g0265	2	396	0.0051	22	c.52 others(33): Show c.5272_*5273insAAAGAAGAAAAGAAAAGAAAAG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3678		chr18	TogoVar
MBP_chr18_76973833_77137783	77112169	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18972.hp2 NA19002.hp1 others(1): Show HG03942.hp1 NA18972.hp2 NA19002.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0027 a0001c0002t0001g0104 a0001c0002t0001g0110 others(1): Show a0001c0001t0001g0027 a0001c0002t0001g0104 a0001c0002t0001g0110 a0001c0002t0001g0184	4	396	0.0101	22	c.-25 others(39): Show c.-25-6884_-25-6883insTGTGTGTGTGTGTGTGTGTGTG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG03041.hp1 HG02148.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0050 a0001c0001t0020 a0001c0001t0050	a0001c0001t0020g0049 a0001c0001t0050g0255 a0001c0001t0020g0049 a0001c0001t0050g0255	2	340	0.0059	22	c.41 others(33): Show c.4153_*4154insATATATATATATATTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179481	A A	ATTATATA others(15): Show ATTATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0154 a0001c0001t0154	a0001c0001t0154g0325 a0001c0001t0154g0325	1	340	0.0029	22	c.10 others(33): Show c.1094_*1095insATATATATATATATATATATAA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1094		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179482	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18612.hp1 NA18747.hp1 NA19011.hp1 NA18612.hp1 NA18747.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0286 a0001c0001t0034g0295 a0001c0001t0034g0305 a0001c0001t0034g0286 a0001c0001t0034g0295 a0001c0001t0034g0305	3	340	0.0088	22	c.10 others(33): Show c.1093_*1094insTATATATATATATATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1093		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179482	T T	TTATATAT others(15): Show TTATATATATATATATATATTTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0118	a0001c0001t0118g0320 a0001c0001t0118g0320	1	340	0.0029	22	c.10 others(33): Show c.1093_*1094insTAAATATATATATATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1093		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51179482	T T	TTATATAT others(15): Show TTATATATATATATATATTTTTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0221 a0001c0001t0116g0221	1	340	0.0029	22	c.10 others(33): Show c.1093_*1094insTAAAAATATATATATATATATA	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	17/17	1093		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51190750	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0029 a0001c0001t0059g0029	1	340	0.0029	22	c.176 others(41): Show c.1768+1452_1768+1453insATATATATATATATATTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16			chr17	TogoVar
MBTD1_chr17_51172425_51265049	51190750	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0041 a0001c0001t0077g0041	1	340	0.0029	22	c.176 others(41): Show c.1768+1452_1768+1453insATATATATATATATATATTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16			chr17	TogoVar
MBTD1_chr17_51172425_51265049	51190750	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0011 a0001c0002t0010g0011	1	340	0.0029	22	c.176 others(41): Show c.1768+1452_1768+1453insATATATATATATATATATATAT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding	16/16			chr17	TogoVar
MBTPS2_chrX_21834617_21890423	21862933	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00741.hp2 others(12): Show HG00438.hp1 HG00544.hp1 HG00741.hp2 HG02040.hp1 HG03540.hp2 HG03688.hp1 NA18612.hp1 NA18959.hp1 NA18985.hp1 NA18986.hp1 NA18999.hp2 NA19057.hp1 NA19063.hp1 NA19070.hp1 NA19078.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0006	a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 a0001c0002t0004 a0002c0003t0002 a0004c0006t0001	a0001c0001t0001g0171 a0001c0001t0001g0212 a0001c0001t0001g0213 others(12): Show a0001c0001t0001g0171 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0255 a0001c0001t0008g0199 a0001c0002t0002g0074 a0001c0002t0002g0086 a0001c0002t0002g0095 a0001c0002t0002g0102 a0001c0002t0002g0116 a0001c0002t0004g0099 a0002c0003t0002g0056 a0004c0006t0001g0193	15	308	0.0487	22	c.671 others(39): Show c.671-5520_671-5499dupTATATATATATATATATATATA	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
MB_chr22_35601764_35622329	35602136	T T	TTGTGTCT others(15): Show TTGTGTCTGTGTGTATTTGCATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0050 a0001c0002t0005g0050	1	376	0.0027	22	c.51 others(33): Show c.5160_*5161insCATGCAAATACACACAGACACA	MB	ENSG00000198125.13	transcript	ENST00000397326.7	protein_coding		4627		chr22	TogoVar
MC1R_chr16_89913862_89925972	89916992	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	1	396	0.0025	22	c.-22 others(33): Show c.-2267_-2266insTATATATATATATATATATATT	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		1869		chr16	TogoVar
MC1R_chr16_89913862_89925972	89916992	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0000 a0003c0004t0003g0000	1	396	0.0025	22	c.-22 others(33): Show c.-2267_-2266insTATATATATATATATATATTTT	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		1869		chr16	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 NA18994.hp2 HG01952.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	428	0.0047	22	c.-25 others(33): Show c.-2544_-2543insAAAAAAAAAAAATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(15): Show ATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 NA19088.hp1 HG01993.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	428	0.0047	22	c.-25 others(33): Show c.-2544_-2543insAAAAAAAAAAAAAATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MCAM_chr11_119303529_119322130	119319882	T T	TCCCAACA others(15): Show TCCCAACAATCTTGGCAGTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	482	0.0021	22	c.-27 others(33): Show c.-2782_-2781insTGTAACTGCCAAGATTGTTGGG	MCAM	ENSG00000076706.17	transcript	ENST00000264036.6	protein_coding		2753		chr11	TogoVar
MCCC2_chr5_71582340_71663706	71633131	A A	ATATATAT others(15): Show ATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	350	0.0029	22	c.803 others(37): Show c.803+947_803+948insATATATATTTTTTTTTTTTTTT	MCCC2	ENSG00000131844.17	transcript	ENST00000340941.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
MCCC2_chr5_71582340_71663706	71633131	A A	ATATATAT others(15): Show ATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	350	0.0029	22	c.803 others(37): Show c.803+947_803+948insATATATTTTTTTTTTTTTTTTT	MCCC2	ENSG00000131844.17	transcript	ENST00000340941.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
MCC_chr5_113017106_113493453	113046710	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19082.hp2 NA19074.hp1 NA19082.hp2	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0003 a0001c0008t0003 a0001c0004t0003 a0001c0008t0003	a0001c0004t0003g0092 a0001c0008t0003g0065 a0001c0004t0003g0092 a0001c0008t0003g0065	2	160	0.0125	22	c.265 others(41): Show c.2655+2382_2655+2383insCTTTTTTTTTTTTTTTTTTTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	16/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113046710	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAGAG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0033 a0002c0001t0033	a0002c0001t0033g0142 a0002c0001t0033g0142	1	160	0.0063	22	c.265 others(41): Show c.2655+2382_2655+2383insCTCTTTTTTTTTTTTTTTTTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	16/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113339438	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0003 a0002c0013t0003	a0002c0013t0003g0141 a0002c0013t0003g0141	1	160	0.0063	22	c.627 others(39): Show c.627+1080_627+1081insGCGCACACACACACACACACAC	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113386754	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18983.hp1 NA19030.hp1 others(1): Show NA18981.hp2 NA18983.hp1 NA19030.hp1 NA19074.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0004 a0002c0001 a0002c0002 others(1): Show a0001c0004 a0002c0001 a0002c0002 a0009c0058	a0001c0004t0003 a0002c0001t0002 a0002c0002t0001 others(1): Show a0001c0004t0003 a0002c0001t0002 a0002c0002t0001 a0009c0058t0007	a0001c0004t0003g0092 a0002c0001t0002g0155 a0002c0002t0001g0156 others(1): Show a0001c0004t0003g0092 a0002c0001t0002g0155 a0002c0002t0001g0156 a0009c0058t0007g0159	4	160	0.0250	22	c.171 others(39): Show c.171-1543_171-1542insATATATATATATATATATATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	1/18			chr5	TogoVar

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