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
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	39	0.0256	23	c.-25 others(34): Show c.-2544_-2543insAAAAAAAAAAATATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	39	0.0256	23	c.-25 others(34): Show c.-2544_-2543insAAAAAAAAAAAAATATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	39	0.0256	23	c.-25 others(34): Show c.-2544_-2543insAAAAAAAAAAAAAAATATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MCCC2_chr5_71582340_71663706	71633131	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	218	0.0046	23	c.803 others(38): Show c.803+947_803+948insATATATATATTTTTTTTTTTTTT	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(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0003 a0003c0020t0003	a0003c0020t0003g0022 a0003c0020t0003g0022	1	35	0.0286	23	c.265 others(42): Show c.2655+2382_2655+2383insCTTTTTTTTTTTTTTTTTTTTTT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	16/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113327561	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0028 a0001c0010t0028	a0001c0010t0028g0035 a0001c0010t0028g0035	1	85	0.0118	23	c.627 others(42): Show c.627+12957_627+12958insATATATATATATATATATATATT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCEE_chr2_71104687_71135229	71125211	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	1	78	0.0128	23	c.41- others(36): Show c.41-669_41-668insAAAAAAAAATATATATATATATA	MCEE	ENSG00000124370.11	transcript	ENST00000244217.6	protein_coding	1/2			chr2	TogoVar
MCEMP1_chr19_7672090_7684829	7674859	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02135.hp2 HG02615.hp2 others(2): Show HG02071.hp2 HG02135.hp2 HG02615.hp2 HG02970.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0009 a0001c0001t0002g0011 a0001c0001t0003g0009 a0001c0001t0001g0009 a0001c0001t0002g0011 a0001c0001t0003g0009	5	53	0.0943	23	c.-22 others(34): Show c.-2262_-2261insTTTTTTTTTTTTTTTTTTTTTTT	MCEMP1	ENSG00000183019.8	transcript	ENST00000333598.8	protein_coding		2230		chr19	TogoVar
MCF2L2_chr3_183173041_183433619	183269230	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01261.hp2 HG03486.hp2 HG01081.hp1 HG01261.hp2 HG03486.hp2	a0002 a0014 a0002 a0014	a0002c0002 a0014c0014 a0002c0002 a0014c0014	a0002c0002t0002 a0002c0002t0005 a0014c0014t0002 a0002c0002t0002 a0002c0002t0005 a0014c0014t0002	a0002c0002t0002g0144 a0002c0002t0005g0171 a0014c0014t0002g0148 a0002c0002t0002g0144 a0002c0002t0005g0171 a0014c0014t0002g0148	3	80	0.0375	23	c.186 others(42): Show c.1862+7641_1862+7642insAAAAAAAAAAAAAAAAAAAAAAA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	15/29			chr3	TogoVar
MCF2L_chr13_112964214_113104742	113061802	T T	TTCCCTCT others(16): Show TTCCCTCTCCCCCTTCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	65	0.0154	23	c.489 others(40): Show c.489+1110_489+1111insCCCTCCCTCTCCCCCTTCCCCTC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2_chrX_139576770_139713167	139709469	T T	TACTATAT others(16): Show TACTATATACATAGCATATATAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	114	0.0088	23	c.-14 others(34): Show c.-1409_-1408insGCTATATATGCTATGTATATAGT	MCF2	ENSG00000101977.22	transcript	ENST00000519895.6	protein_coding		1303		chrX	TogoVar
MCMDC2_chr8_66865771_66927048	66902711	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0038 a0004c0004t0003g0038	1	121	0.0083	23	c.176 others(42): Show c.1769+1364_1769+1365insAAAAAAAAAAAAAAAAATATATA	MCMDC2	ENSG00000178460.18	transcript	ENST00000422365.7	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCMDC2_chr8_66865771_66927048	66902711	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0040 a0004c0004t0003g0040	1	121	0.0083	23	c.176 others(42): Show c.1769+1364_1769+1365insAAAAAAAAAAAAATATATATATA	MCMDC2	ENSG00000178460.18	transcript	ENST00000422365.7	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCOLN1_chr19_7517624_7539009	7518557	G G	GAGAAGAA others(16): Show GAGAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	65	0.0154	23	c.-41 others(34): Show c.-4194_-4193insAGAAGAAAGAAAGAAAGAAAGAA	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding		4066		chr19	TogoVar
MCOLN1_chr19_7517624_7539009	7518557	G G	GAGAGAGA others(16): Show GAGAGAGAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0075 a0011c0016t0001g0075	1	65	0.0154	23	c.-41 others(34): Show c.-4194_-4193insAGAGAGAAGAAAGAAAGAAAGAA	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding		4066		chr19	TogoVar
MCOLN2_chr1_84920583_85002113	84922462	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0295 a0001c0001t0003g0295	1	174	0.0057	23	c.42 others(34): Show c.4222_*4223insAAAAATATATATATATATATATA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3120		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84922462	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 NA18967.hp2 HG02300.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0242 a0001c0001t0004g0096 a0001c0001t0002g0242 a0001c0001t0004g0096	2	175	0.0114	23	c.42 others(34): Show c.4222_*4223insAAAAAAATATATATATATATATA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3120		chr1	TogoVar
MCPH1_chr8_6401627_6653508	6562552	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0200 a0002c0002t0002g0200	1	6	0.1667	23	c.221 others(44): Show c.2215-58883_2215-58882insTTTTTTTTTTTTTTTTTTTTTTT	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCTP2_chr15_94226561_94488952	94325812	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	6	0.1667	23	c.637 others(42): Show c.637+10179_637+10201dupTTTTTTTTTTTTTTTTTTTTTTT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94379733	A A	AATATAAT others(16): Show AATATAATATATGATATATAATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02647.hp2 HG02818.hp2 others(1): Show HG01192.hp1 HG02647.hp2 HG02818.hp2 HG03195.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0024 a0001c0002 a0006c0024	a0001c0002t0001 a0001c0002t0014 a0006c0024t0013 a0001c0002t0001 a0001c0002t0014 a0006c0024t0013	a0001c0002t0001g0002 a0001c0002t0001g0130 a0001c0002t0014g0117 others(1): Show a0001c0002t0001g0002 a0001c0002t0001g0130 a0001c0002t0014g0117 a0006c0024t0013g0111	4	274	0.0146	23	c.158 others(42): Show c.1583-4272_1583-4250dupATAATATATATAATATATGATAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCU_chr10_72687143_72892694	72714345	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	95	0.0105	23	c.150 others(42): Show c.150+22045_150+22067dupTTTTTTTTTTTTTTTTTTTTTTT	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCU_chr10_72687143_72892694	72780551	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	207	0.0048	23	c.151 others(42): Show c.151-53808_151-53807insGTGTGTGTGTGTGTGTGTGTGTG	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7			chr10	TogoVar
MDFIC_chr7_114917094_115024917	114919279	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02145.hp1 HG02717.hp2 HG00735.hp2 HG02145.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012	a0001c0001t0005g0233 a0001c0001t0010g0056 a0001c0001t0012g0013 a0001c0001t0005g0233 a0001c0001t0010g0056 a0001c0001t0012g0013	3	6	0.5000	23	c.-34 others(34): Show c.-3465_-3464insTTTTTTTTTTTTTTTTTTTTTTT	MDFIC	ENSG00000135272.13	transcript	ENST00000393486.6	protein_coding		2814		chr7	TogoVar
MDGA2_chr14_46835092_47680605	47370468	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp2 HG02145.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0111 a0001c0001t0017g0011 a0001c0001t0001g0111 a0001c0001t0017g0011	2	73	0.0274	23	c.281 others(42): Show c.281-68941_281-68919dupAAAAAAAAAAAAAAAAAAAAAAA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDM2_chr12_68803177_68850544	68847196	T T	TATATATA others(16): Show TATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0015 a0001c0001t0075g0015	1	198	0.0051	23	c.73 others(34): Show c.7347_*7348insATATATATATATATATATATATA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding		1653		chr12	TogoVar
MDM4_chr1_204511406_204563120	204551461	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	59	0.0169	23	c.17 others(34): Show c.1786_*1808dupTTTTTTTTTTTTTTTTTTTTTTT	MDM4	ENSG00000198625.14	transcript	ENST00000367182.8	protein_coding	11/11	1809	INFO_REALIGN_3_PRIME	chr1	TogoVar
MDN1_chr6_89637498_89824794	89734689	A A	AACGAGAG others(16): Show AACGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	252	0.0040	23	c.472 others(42): Show c.4724-1915_4724-1914insCTCTCTCTCTCTCTCTCTCTCGT	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	33/101			chr6	TogoVar
ME1_chr6_83205402_83436051	83237274	A A	AGAAAGAG others(16): Show AGAAAGAGAAAGAAAGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp1 HG01123.hp1 others(11): Show HG00140.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01496.hp2 HG01993.hp2 HG02293.hp1 HG02735.hp2 HG02886.hp1 HG03098.hp2 HG04199.hp1 HG04204.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0068 others(11): Show a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0190 a0001c0001t0002g0026 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0093 a0001c0001t0002g0101 a0001c0001t0002g0191 a0001c0001t0003g0236 a0001c0001t0006g0237 a0001c0001t0006g0272	14	143	0.0979	23	c.102 others(40): Show c.1026+442_1026+443insCTTCCTTTCTTTCTTTCTCTTTC	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	9/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83283227	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02698.hp1 HG01515.hp2 HG02698.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0003c0009t0001 a0001c0001t0001 a0003c0009t0001	a0001c0001t0001g0086 a0003c0009t0001g0088 a0001c0001t0001g0086 a0003c0009t0001g0088	2	123	0.0163	23	c.705 others(42): Show c.705-29490_705-29489insTTTTTTTTTTTTTTTTTTTTTTT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83376804	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0021 a0001c0003t0004g0021	1	89	0.0112	23	c.362 others(42): Show c.362+21562_362+21563insTTTTTTTTTTTTTTTTTTTTTTT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
MECOM_chr3_169078507_169668712	169441728	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03516.hp2 HG04204.hp2 HG00544.hp1 HG03516.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009	a0001c0001t0006g0102 a0001c0001t0008g0088 a0001c0001t0009g0113 a0001c0001t0006g0102 a0001c0001t0008g0088 a0001c0001t0009g0113	3	138	0.0217	23	c.38- others(40): Show c.38-60205_38-60204insAAAAAAAAAAAAAAAAAAAAAAA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MED12L_chr3_151080664_151441653	151151031	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0179 a0001c0004t0023g0179	1	13	0.0769	23	c.557 others(40): Show c.557-5129_557-5107dupTTTTTTTTTTTTTTTTTTTTTTT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	5/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151178157	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0017 a0001c0020t0001g0017	1	94	0.0106	23	c.149 others(42): Show c.1495-7168_1495-7146dupAAAAAAAAAAAAAAAAAAAAAAA	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	11/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED13L_chr12_115953576_116282693	116031759	A A	AGAAAAGA others(16): Show AGAAAAGAAAAGAAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	33	0.0303	23	c.480 others(40): Show c.480-9159_480-9158insCTTCCTTCTTTTCTTTTCTTTTC	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116096354	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19074.hp2 HG02559.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0118 a0001c0001t0001g0106 a0001c0001t0001g0118	2	26	0.0769	23	c.479 others(38): Show c.479+292_479+314dupTTTTTTTTTTTTTTTTTTTTTTT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13_chr17_61937605_62070278	62008016	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0231 a0002c0005t0001g0231	1	106	0.0094	23	c.196 others(42): Show c.1967+2533_1967+2534insTTTTTTTTTTTTTTTTTTTTTTT	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	9/29			chr17	TogoVar
MED13_chr17_61937605_62070278	62008317	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0005 a0005	a0005c0022 a0005c0022	a0005c0022t0006 a0005c0022t0006	a0005c0022t0006g0281 a0005c0022t0006g0281	1	99	0.0101	23	c.196 others(42): Show c.1967+2210_1967+2232dupTTTTTTTTTTTTTTTTTTTTTTT	MED13	ENSG00000108510.10	transcript	ENST00000397786.7	protein_coding	9/29			chr17	TogoVar
MED16_chr19_862963_898187	871278	T T	TCAGCACC others(16): Show TCAGCACCCCTGACTGGGGCACCG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0048	1	54	0.0185	23	c.209 others(38): Show c.2099-48_2099-26dupCGGTGCCCCAGTCAGGGGTGCTG	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	12/15			chr19	TogoVar
MED19_chr11_57698710_57717215	57702425	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	343	0.0029	23	c.16 others(34): Show c.1612_*1613insATATATATATATATATATATATA	MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding		1284		chr11	TogoVar
MED19_chr11_57698710_57717215	57702437	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	28	0.0357	23	c.16 others(34): Show c.1600_*1601insATATATATATATATATATATTTT	MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding		1272		chr11	TogoVar
MED19_chr11_57698710_57717215	57702437	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	28	0.0357	23	c.16 others(34): Show c.1600_*1601insATATATATATATATATATATATT	MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding		1272		chr11	TogoVar
MED19_chr11_57698710_57717215	57702437	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	28	0.0357	23	c.16 others(34): Show c.1600_*1601insATATATATATATATATATATATA	MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding		1272		chr11	TogoVar
MED24_chr17_40014104_40059408	40043890	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02965.hp1 NA20905.hp1 HG02622.hp1 HG02965.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0013 a0001c0003 a0001c0013	a0001c0003t0003 a0001c0013t0003 a0001c0003t0003 a0001c0013t0003	a0001c0003t0003g0054 a0001c0003t0003g0060 a0001c0013t0003g0053 a0001c0003t0003g0054 a0001c0003t0003g0060 a0001c0013t0003g0053	3	310	0.0097	23	c.214 others(40): Show c.214-7737_214-7736insTTTTTTTTTTTTTTTTTTTTTTT	MED24	ENSG00000008838.21	transcript	ENST00000394128.7	protein_coding	3/25			chr17	TogoVar
MED24_chr17_40014104_40059408	40043890	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAACAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0052 a0001c0003t0003g0052	1	308	0.0032	23	c.214 others(40): Show c.214-7737_214-7736insTTTTTTTTTGTTTTTTTTTTTTT	MED24	ENSG00000008838.21	transcript	ENST00000394128.7	protein_coding	3/25			chr17	TogoVar
MED27_chr9_131855112_132084867	131941817	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	73	0.0137	23	c.480 others(40): Show c.480-2366_480-2344dupAAAAAAAAAAAAAAAAAAAAAAA	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MED27_chr9_131855112_132084867	131966383	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02257.hp1 HG02922.hp1 others(3): Show HG01175.hp1 HG02257.hp1 HG02922.hp1 HG03225.hp1 NA18954.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0157 others(3): Show a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0157 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0002g0032	6	24	0.2500	23	c.480 others(42): Show c.480-26910_480-26909insTTTTTTTTTTTTTTTTTTTTTTT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MED28_chr4_17609641_17639105	17613882	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 NA18955.hp1 NA18995.hp2 others(3): Show HG02809.hp2 NA18955.hp1 NA18995.hp2 NA19000.hp2 NA19004.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0015 a0001c0001t0027 a0001c0001t0006 a0001c0001t0015 a0001c0001t0027	a0001c0001t0006g0003 a0001c0001t0015g0004 a0001c0001t0027g0003 a0001c0001t0006g0003 a0001c0001t0015g0004 a0001c0001t0027g0003	6	64	0.0938	23	c.-77 others(32): Show c.-773_-772insAAAAAAAAAAAAAAAAAAAAAAA	MED28	ENSG00000118579.13	transcript	ENST00000237380.12	protein_coding		758		chr4	TogoVar
MED30_chr8_117515713_117545262	117540699	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01258.hp1 HG02145.hp1 others(4): Show HG00642.hp1 HG01258.hp1 HG02145.hp1 HG02738.hp2 HG02922.hp1 HG03492.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0002g0014 a0001c0001t0002g0023 a0001c0001t0002g0028 others(4): Show a0001c0001t0002g0014 a0001c0001t0002g0023 a0001c0001t0002g0028 a0001c0001t0002g0045 a0001c0001t0002g0053 a0001c0001t0004g0004 a0001c0001t0005g0020	7	122	0.0574	23	c.72 others(32): Show c.721_*722insTTTTTTTTTTTTTTTTTTTTTTT	MED30	ENSG00000164758.7	transcript	ENST00000297347.7	protein_coding		438		chr8	TogoVar
MED31_chr17_6638311_6656605	6651120	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02148.hp2 HG04199.hp2 HG01070.hp2 HG02148.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0087 a0001c0001t0001g0029 a0001c0001t0001g0087	3	120	0.0250	23	c.28+ others(36): Show c.28+380_28+381insTTTTTTTTTTTTTTTTTTTTTTT	MED31	ENSG00000108590.11	transcript	ENST00000225728.8	protein_coding	1/3			chr17	TogoVar
MED9_chr17_17472000_17498221	17493440	T T	TCCCTGCC others(16): Show TCCCTGCCCCTGCCTGTCACGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(185): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02074.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp2 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA18997.hp1 NA18999.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19043.hp1 NA19055.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19066.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19088.hp1 NA19089.hp1 NA19240.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0014 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(64): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0002g0008 a0001c0001t0002g0049 a0001c0001t0004g0007 a0001c0001t0004g0010 a0001c0001t0006g0032 a0001c0001t0006g0033 a0001c0001t0009g0023 a0001c0001t0010g0044 a0001c0001t0010g0046 a0001c0001t0012g0007 a0001c0001t0012g0075 a0001c0001t0016g0001 a0001c0001t0018g0020 a0001c0002t0001g0001 a0001c0002t0001g0013 a0001c0002t0001g0026 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0043 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0003g0001 a0001c0002t0003g0050 a0001c0002t0007g0001 a0001c0002t0007g0028 a0001c0002t0007g0073 a0001c0002t0014g0001 a0002c0003t0001g0068 a0002c0003t0001g0069 a0002c0003t0002g0030 a0002c0003t0005g0017 a0002c0003t0005g0040 a0002c0003t0005g0100 a0003c0005t0001g0056	188	402	0.4677	23	c.19 others(34): Show c.1945_*1946insCCCTGCCCCTGCCTGTCACGGGC	MED9	ENSG00000141026.6	transcript	ENST00000268711.4	protein_coding		220		chr17	TogoVar

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