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
MRI1_chr19_13759522_13779282	13776945	G G	GTTTTTGT others(14): Show GTTTTTGTTTTTTGTTTTTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	460	0.0022	21	c.46 others(32): Show c.4664_*4665insTTTTTGTTTTTTGTTTTTTGT	MRI1	ENSG00000037757.14	transcript	ENST00000040663.8	protein_coding		2664		chr19	TogoVar
MROH1_chr8_144143016_144266926	144195195	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp1 HG04204.hp1 HG00642.hp2 HG01074.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0116 a0001c0001t0001g0134 a0001c0002t0001g0135 a0001c0001t0001g0116 a0001c0001t0001g0134 a0001c0002t0001g0135	3	140	0.0214	21	c.948 others(38): Show c.948+2798_948+2818dupAAAAAAAAAAAAAAAAAAAAA	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	10/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144203085	G G	GGGGGGAG others(14): Show GGGGGGAGCGCCCGCTGTCTGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0002 a0009c0014t0001g0002	1	140	0.0071	21	c.114 others(40): Show c.1141+2546_1141+2547insGGGAGCGCCCGCTGTCTGTGG	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144234534	T T	TTTTTTTT others(14): Show TTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	140	0.0071	21	c.133 others(40): Show c.1339-4222_1339-4221insTTTTTTTTTTTTTTTTTTTTC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	14/43			chr8	TogoVar
MROH1_chr8_144143016_144266926	144246029	C C	CCCCTCCC others(14): Show CCCCTCCCTCCCTTCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	140	0.0071	21	c.287 others(38): Show c.2871+769_2871+770insCCCTCCCTCCCTTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	29/43			chr8	TogoVar
MROH2A_chr2_233773330_233838418	233813271	A A	AGCTGCTG others(14): Show AGCTGCTGCTGCTGCTGCTGCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00597.hp2 others(19): Show HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02523.hp1 NA18906.hp1 NA18942.hp1 NA18949.hp2 NA18957.hp2 NA18964.hp2 NA18983.hp1 NA19010.hp2 NA19012.hp1 NA19064.hp1 NA19075.hp2 NA19080.hp2 NA19086.hp2	a0003 a0004 a0007 others(8): Show a0003 a0004 a0007 a0009 a0018 a0042 a0047 a0063 a0107 a0108 a0129	a0003c0038 a0004c0005 a0007c0072 others(10): Show a0003c0038 a0004c0005 a0007c0072 a0009c0004 a0009c0123 a0018c0073 a0018c0076 a0042c0048 a0047c0194 a0063c0150 a0107c0110 a0108c0111 a0129c0113	a0003c0038t0001 a0004c0005t0001 a0007c0072t0001 others(10): Show a0003c0038t0001 a0004c0005t0001 a0007c0072t0001 a0009c0004t0001 a0009c0123t0001 a0018c0073t0001 a0018c0076t0001 a0042c0048t0001 a0047c0194t0001 a0063c0150t0001 a0107c0110t0001 a0108c0111t0001 a0129c0113t0001	a0003c0038t0001g0354 a0004c0005t0001g0212 a0004c0005t0001g0325 others(19): Show a0003c0038t0001g0354 a0004c0005t0001g0212 a0004c0005t0001g0325 a0004c0005t0001g0328 a0007c0072t0001g0351 a0009c0004t0001g0134 a0009c0004t0001g0191 a0009c0004t0001g0224 a0009c0004t0001g0225 a0009c0004t0001g0232 a0009c0004t0001g0247 a0009c0004t0001g0324 a0009c0004t0001g0347 a0009c0123t0001g0260 a0018c0073t0001g0046 a0018c0076t0001g0138 a0042c0048t0001g0052 a0047c0194t0001g0066 a0063c0150t0001g0288 a0107c0110t0001g0139 a0108c0111t0001g0286 a0129c0113t0001g0279	22	378	0.0582	21	c.265 others(38): Show c.2652-397_2652-377dupCTGCTGCTGCTGCTGCTGCTG	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	24/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH2B_chr5_40993020_41076342	41057563	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18974.hp2 NA18989.hp1 others(3): Show NA18957.hp2 NA18974.hp2 NA18989.hp1 NA18998.hp2 NA19056.hp2 NA19068.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0314 a0002c0002t0001g0346 others(2): Show a0002c0002t0001g0010 a0002c0002t0001g0314 a0002c0002t0001g0346 a0002c0002t0001g0347 a0002c0002t0001g0348	6	396	0.0152	21	c.757 others(36): Show c.757-204_757-203insAAAAAAAAAAAAAAAAAAAAA	MROH2B	ENSG00000171495.17	transcript	ENST00000399564.5	protein_coding	7/41			chr5	TogoVar
MROH7_chr1_54636786_54715266	54699159	T T	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0303 a0002c0002t0001g0303	1	380	0.0026	21	c.296 others(40): Show c.2965-1162_2965-1161insCTTTCTTTCTTTCTTTCTTTC	MROH7	ENSG00000184313.20	transcript	ENST00000421030.7	protein_coding	17/23			chr1	TogoVar
MRO_chr18_50790130_50825016	50802916	A A	AGTGTGTG others(14): Show AGTGTGTGTGTGTGTGTGTAGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18522.hp2 HG00738.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0012 a0001c0006 a0002c0012	a0001c0006t0009 a0002c0012t0015 a0001c0006t0009 a0002c0012t0015	a0001c0006t0009g0201 a0002c0012t0015g0088 a0001c0006t0009g0201 a0002c0012t0015g0088	2	430	0.0047	21	c.430 others(38): Show c.430-1413_430-1412insACTACACACACACACACACAC	MRO	ENSG00000134042.14	transcript	ENST00000398439.8	protein_coding	5/7			chr18	TogoVar
MRPL14_chr6_44108451_44132452	44127168	A A	ACCCCCCT others(14): Show ACCCCCCTCCCCGTCGGGACCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01074.hp1 HG01106.hp2 others(11): Show HG00733.hp2 HG01074.hp1 HG01106.hp2 HG01257.hp1 HG01361.hp1 HG02145.hp1 HG02523.hp2 HG03491.hp1 NA18952.hp1 NA18954.hp2 NA18961.hp1 NA18969.hp1 NA19007.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0038 a0001c0002t0002g0127 others(5): Show a0001c0002t0002g0014 a0001c0002t0002g0038 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132	14	436	0.0321	21	c.-19 others(36): Show c.-19+155_-19+175dupGGGTCCCGACGGGGAGGGGGG	MRPL14	ENSG00000180992.7	transcript	ENST00000372014.5	protein_coding	1/2			chr6	TogoVar
MRPL14_chr6_44108451_44132452	44127186	A A	ACCCCCCC others(14): Show ACCCCCCCCTCCCCGTCGGGAC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01258.hp2 HG01978.hp1 others(12): Show HG01169.hp2 HG01258.hp2 HG01978.hp1 HG02258.hp1 HG02486.hp1 HG03017.hp2 HG03486.hp2 HG03492.hp2 HG03834.hp1 NA18947.hp1 NA18950.hp2 NA18965.hp1 NA18971.hp1 NA18980.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0022 a0001c0002t0002g0083 others(5): Show a0001c0002t0002g0011 a0001c0002t0002g0022 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0089	15	436	0.0344	21	c.-19 others(36): Show c.-19+137_-19+157dupGTCCCGACGGGGAGGGGGGGG	MRPL14	ENSG00000180992.7	transcript	ENST00000372014.5	protein_coding	1/2			chr6	TogoVar
MRPL44_chr2_223952463_223972714	223969549	T T	TCCCCCCC others(14): Show TCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	424	0.0024	21	c.25 others(32): Show c.2515_*2516insCCCCCCCCCCCCCCCCCCCCC	MRPL44	ENSG00000135900.4	transcript	ENST00000258383.4	protein_coding		1836		chr2	TogoVar
MRPL44_chr2_223952463_223972714	223969554	G G	GCCCCCCC others(14): Show GCCCCCCCCCACCCCCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	424	0.0024	21	c.25 others(32): Show c.2520_*2521insCCCCCCCCCACCCCCCCCACC	MRPL44	ENSG00000135900.4	transcript	ENST00000258383.4	protein_coding		1841		chr2	TogoVar
MRPL44_chr2_223952463_223972714	223969554	G G	GCCCCCCC others(14): Show GCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	21	c.25 others(32): Show c.2520_*2521insCCCCCCCCCCCCCCCCCCCCC	MRPL44	ENSG00000135900.4	transcript	ENST00000258383.4	protein_coding		1841		chr2	TogoVar
MRPL47_chr3_179583285_179609638	179598429	C C	CACACACA others(14): Show CACACACACACACACACAAACA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	388	0.0026	21	c.402 others(36): Show c.402+245_402+246insTGTTTGTGTGTGTGTGTGTGT	MRPL47	ENSG00000136522.14	transcript	ENST00000476781.6	protein_coding	4/6			chr3	TogoVar
MRPL53_chr2_74466982_74477680	74471814	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02486.hp1 others(3): Show HG02109.hp1 HG02257.hp1 HG02486.hp1 HG02970.hp1 HG03098.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	384	0.0156	21	c.30 others(30): Show c.304_*305insTTTTTTTTTTTTTTTTTTTTT	MRPL53	ENSG00000204822.7	transcript	ENST00000258105.8	protein_coding		167		chr2	TogoVar
MRPL58_chr17_75007670_75026261	75008948	A A	ATTTCTTT others(14): Show ATTTCTTTCCCTTCTTCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01071.hp1 others(20): Show HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01261.hp1 HG01884.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02572.hp1 HG02647.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03516.hp1 NA19030.hp2 NA20300.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0004 a0005c0012 a0001c0001 a0003c0004 a0005c0012	a0001c0001t0001 a0003c0004t0001 a0005c0012t0001 a0001c0001t0001 a0003c0004t0001 a0005c0012t0001	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0026 a0003c0004t0001g0005 a0003c0004t0001g0051 a0003c0004t0001g0052 a0005c0012t0001g0050	23	388	0.0593	21	c.-37 others(32): Show c.-3739_-3738insTTTCTTTCCCTTCTTCCCTCC	MRPL58	ENSG00000167862.10	transcript	ENST00000301585.10	protein_coding		3721		chr17	TogoVar
MRPS23_chr17_57829781_57855044	57838289	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0256 a0001c0001t0109g0256	1	396	0.0025	21	c.14 others(32): Show c.1473_*1493dupTTTTTTTTTTTTTTTTTTTTT	MRPS23	ENSG00000181610.13	transcript	ENST00000313608.13	protein_coding	5/5	1493		chr17	TogoVar
MRPS28_chr8_79913717_80035259	80028645	C C	CGGGCGGG others(14): Show CGGGCGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01243.hp1 HG01943.hp1 others(5): Show HG00609.hp2 HG01243.hp1 HG01943.hp1 HG02015.hp2 HG02622.hp2 HG03130.hp1 NA18949.hp1 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 others(5): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0227 a0001c0005t0001g0292 a0002c0002t0001g0226 a0003c0003t0001g0284	8	300	0.0267	21	c.213 others(38): Show c.213+1390_213+1391insCCCCCCCCCCCCCCCCCGCCC	MRPS28	ENSG00000147586.10	transcript	ENST00000276585.9	protein_coding	1/2			chr8	TogoVar
MRPS28_chr8_79913717_80035259	80028648	G G	GCGGGGGG others(14): Show GCGGGGGGGGGGGGGGGGGGCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	300	0.0033	21	c.213 others(38): Show c.213+1387_213+1388insGGCCCCCCCCCCCCCCCCCCG	MRPS28	ENSG00000147586.10	transcript	ENST00000276585.9	protein_coding	1/2			chr8	TogoVar
MRPS28_chr8_79913717_80035259	80028648	G G	GCGGGGGG others(14): Show GCGGGGGGGGGGGGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02055.hp1 HG02965.hp2 HG01934.hp2 HG02055.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0196 a0001c0001t0001g0266 a0001c0001t0001g0267	3	300	0.0100	21	c.213 others(38): Show c.213+1387_213+1388insGCCCCCCCCCCCCCCCCCCCG	MRPS28	ENSG00000147586.10	transcript	ENST00000276585.9	protein_coding	1/2			chr8	TogoVar
MRPS28_chr8_79913717_80035259	80028649	C C	CGGGGGGG others(14): Show CGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	300	0.0033	21	c.213 others(38): Show c.213+1386_213+1387insCCCCCCCCCCCCCCCCCCCCC	MRPS28	ENSG00000147586.10	transcript	ENST00000276585.9	protein_coding	1/2			chr8	TogoVar
MRPS34_chr16_1766895_1778134	1771127	T T	TTCACGCA others(14): Show TTCACGCAGCTCGGCGTAGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	21	c.10 others(32): Show c.1073_*1093dupGCACTACGCCGAGCTGCGTGA	MRPS34	ENSG00000074071.15	transcript	ENST00000397375.7	protein_coding		767		chr16	TogoVar
MRPS6_chr21_34068578_34148030	34068818	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	296	0.0034	21	c.-48 others(32): Show c.-4883_-4882insAAAAAAAAAAAAAAAAAAAAG	MRPS6	ENSG00000243927.6	transcript	ENST00000399312.3	protein_coding		4759		chr21	TogoVar
MRRF_chr9_122259882_122336337	122261929	G G	GGAAGAGG others(14): Show GGAAGAGGCAATATAGCAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0109 a0001c0001t0016g0109	1	264	0.0038	21	c.-30 others(32): Show c.-3038_-3037insGAAGAGGCAATATAGCAAAGA	MRRF	ENSG00000148187.18	transcript	ENST00000344641.8	protein_coding		2952		chr9	TogoVar
MRTFB_chr16_14066319_14271773	14219093	G G	GAATTGAA others(14): Show GAATTGAATTTAAATTGATTTA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	240	0.0042	21	c.693 others(35): Show c.693+96_693+116dupAATTGAATTTAAATTGATTTA	MRTFB	ENSG00000186260.17	transcript	ENST00000571589.6	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MRTFB_chr16_14066319_14271773	14243863	G G	GGTTTTTT others(14): Show GGTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02897.hp2 HG02572.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0016 a0001c0001t0015 a0001c0001t0016	a0001c0001t0015g0226 a0001c0001t0016g0227 a0001c0001t0015g0226 a0001c0001t0016g0227	2	240	0.0083	21	c.108 others(40): Show c.1080-1651_1080-1650insTTTTTTTGTTTTTTTTTTTTT	MRTFB	ENSG00000186260.17	transcript	ENST00000571589.6	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MRTFB_chr16_14066319_14271773	14243864	G G	GTTTGTTT others(14): Show GTTTGTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp1 HG02717.hp2 others(6): Show HG02280.hp2 HG02630.hp1 HG02717.hp2 HG02970.hp2 HG03041.hp2 HG06807.hp1 NA18906.hp1 NA19043.hp1 NA19043.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0015 a0006c0013 a0001c0001 a0001c0015 a0006c0013	a0001c0001t0001 a0001c0001t0006 a0001c0001t0020 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0020 a0001c0001t0021 a0001c0015t0007 a0006c0013t0001	a0001c0001t0001g0003 a0001c0001t0006g0208 a0001c0001t0006g0215 others(6): Show a0001c0001t0001g0003 a0001c0001t0006g0208 a0001c0001t0006g0215 a0001c0001t0006g0218 a0001c0001t0006g0219 a0001c0001t0020g0237 a0001c0001t0021g0222 a0001c0015t0007g0220 a0006c0013t0001g0118	9	240	0.0375	21	c.108 others(40): Show c.1080-1661_1080-1660insGTTTTTTTTTTTTTTTTTTTT	MRTFB	ENSG00000186260.17	transcript	ENST00000571589.6	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MRTFB_chr16_14066319_14271773	14243864	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02027.hp2 HG02055.hp1 others(14): Show HG00408.hp1 HG02027.hp2 HG02055.hp1 HG02080.hp1 HG02258.hp2 HG02451.hp1 HG02602.hp1 HG02615.hp1 HG02698.hp2 HG03704.hp1 NA18940.hp1 NA18946.hp2 NA18951.hp2 NA18962.hp1 NA18978.hp1 NA18991.hp1 NA19066.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0016 others(1): Show a0001c0001 a0001c0002 a0001c0016 a0004c0006	a0001c0001t0010 a0001c0002t0002 a0001c0002t0005 others(2): Show a0001c0001t0010 a0001c0002t0002 a0001c0002t0005 a0001c0016t0002 a0004c0006t0002	a0001c0001t0010g0228 a0001c0001t0010g0230 a0001c0002t0002g0008 others(14): Show a0001c0001t0010g0228 a0001c0001t0010g0230 a0001c0002t0002g0008 a0001c0002t0002g0013 a0001c0002t0002g0015 a0001c0002t0002g0024 a0001c0002t0002g0046 a0001c0002t0002g0049 a0001c0002t0002g0057 a0001c0002t0002g0062 a0001c0002t0002g0064 a0001c0002t0005g0017 a0001c0002t0005g0021 a0001c0002t0005g0027 a0001c0002t0005g0066 a0001c0016t0002g0053 a0004c0006t0002g0052	17	240	0.0708	21	c.108 others(40): Show c.1080-1651_1080-1650insTTTTTTTTTTTTTTTTTTTTT	MRTFB	ENSG00000186260.17	transcript	ENST00000571589.6	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MS4A4A_chr11_60275666_60313970	60294892	A A	ACTACTAC others(14): Show ACTACTACTACTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	430	0.0023	21	c.202 others(38): Show c.202-2303_202-2302insACTACTACTTCTTCTTCTTCT	MS4A4A	ENSG00000110079.19	transcript	ENST00000337908.5	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
MS4A4A_chr11_60275666_60313970	60294892	A A	ACTACTAC others(14): Show ACTACTACTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01256.hp2 HG02129.hp1 others(7): Show HG01070.hp2 HG01256.hp2 HG02129.hp1 HG02293.hp2 HG03239.hp1 HG03669.hp2 HG03704.hp1 HG03927.hp1 NA18977.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0096 a0001c0001t0001g0156 others(6): Show a0001c0001t0001g0056 a0001c0001t0001g0096 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0278	10	430	0.0233	21	c.202 others(38): Show c.202-2303_202-2302insACTACTTCTTCTTCTTCTTCT	MS4A4A	ENSG00000110079.19	transcript	ENST00000337908.5	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
MS4A4A_chr11_60275666_60313970	60294892	A A	ACTACTTC others(14): Show ACTACTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18948.hp1 NA19056.hp1 HG02572.hp2 NA18948.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0097 a0001c0001t0001g0027 a0001c0001t0001g0097	3	430	0.0070	21	c.202 others(38): Show c.202-2303_202-2302insACTTCTTCTTCTTCTTCTTCT	MS4A4A	ENSG00000110079.19	transcript	ENST00000337908.5	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
MS4A4A_chr11_60275666_60313970	60294892	A A	ACTTCTTC others(14): Show ACTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18747.hp1 NA18971.hp2 others(6): Show HG03225.hp1 NA18747.hp1 NA18971.hp2 NA18979.hp2 NA18998.hp1 NA19059.hp1 NA19060.hp1 NA19072.hp1 NA19075.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0004 a0003c0003 a0004c0008 a0001c0004 a0003c0003 a0004c0008	a0001c0004t0003 a0003c0003t0004 a0004c0008t0003 a0001c0004t0003 a0003c0003t0004 a0004c0008t0003	a0001c0004t0003g0020 a0001c0004t0003g0172 a0001c0004t0003g0177 others(4): Show a0001c0004t0003g0020 a0001c0004t0003g0172 a0001c0004t0003g0177 a0001c0004t0003g0178 a0001c0004t0003g0289 a0003c0003t0004g0217 a0004c0008t0003g0179	9	430	0.0209	21	c.202 others(38): Show c.202-2266_202-2246dupTCTTCTTCTTCTTCTTCTTCT	MS4A4A	ENSG00000110079.19	transcript	ENST00000337908.5	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
MS4A4A_chr11_60275666_60313970	60294928	T T	TCTTCTTC others(14): Show TCTTCTTCTTCTTCTTCTTCTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0299 a0002c0002t0010g0299	1	430	0.0023	21	c.202 others(38): Show c.202-2249_202-2248insGCTTCTTCTTCTTCTTCTTCT	MS4A4A	ENSG00000110079.19	transcript	ENST00000337908.5	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
MS4A4E_chr11_60195270_60248137	60232322	C C	CACACACA others(14): Show CACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	410	0.0024	21	c.-16 others(38): Show c.-16-2252_-16-2251insTGTGTGTGTGTGTGTGTGTGT	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	1/8			chr11	TogoVar
MSANTD4_chr11_106002899_106027240	106022839	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0084 a0001c0001t0024g0084	1	384	0.0026	21	c.-20 others(32): Show c.-2029_-2028insAAAAAAAAAAAAAAAAAAAAA	MSANTD4	ENSG00000170903.12	transcript	ENST00000301919.9	protein_coding		600		chr11	TogoVar
MSH2_chr2_47398156_47488223	47413548	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02165.hp2 HG00597.hp1 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0207 a0001c0001t0001g0210	2	370	0.0054	21	c.793 others(36): Show c.793-708_793-688dupTTTTTTTTTTTTTTTTTTTTT	MSH2	ENSG00000095002.15	transcript	ENST00000233146.7	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH2_chr2_47398156_47488223	47449015	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	370	0.0027	21	c.138 others(40): Show c.1386+3369_1386+3370insAAAAAAAAAAAAAAAAAAAAA	MSH2	ENSG00000095002.15	transcript	ENST00000233146.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH2_chr2_47398156_47488223	47461912	T T	TTTTTCTT others(14): Show TTTTTCTTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	370	0.0027	21	c.138 others(40): Show c.1387-1110_1387-1109insTCTTTTCTTTTCTTTTCTTTT	MSH2	ENSG00000095002.15	transcript	ENST00000233146.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH3_chr5_80649652_80881815	80654344	C C	CCTGGCGC others(14): Show CCTGGCGCGTCCCCGCCCAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0015 a0007c0012t0015	a0007c0012t0015g0283 a0007c0012t0015g0283	1	362	0.0028	21	c.-38 others(30): Show c.-384_-383insCTGGCGCGTCCCCGCCCAGGT	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding		307		chr5	TogoVar
MSH3_chr5_80649652_80881815	80691939	A A	ATATGTTT others(14): Show ATATGTTTAGATAGATAAACAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18974.hp2 NA18999.hp2 others(2): Show HG04115.hp1 NA18974.hp2 NA18999.hp2 NA19060.hp1 NA19084.hp2	a0004 a0009 a0029 a0004 a0009 a0029	a0004c0005 a0009c0010 a0029c0024 a0004c0005 a0009c0010 a0029c0024	a0004c0005t0007 a0009c0010t0002 a0029c0024t0016 a0004c0005t0007 a0009c0010t0002 a0029c0024t0016	a0004c0005t0007g0294 a0009c0010t0002g0041 a0009c0010t0002g0066 others(2): Show a0004c0005t0007g0294 a0009c0010t0002g0041 a0009c0010t0002g0066 a0009c0010t0002g0081 a0029c0024t0016g0040	5	362	0.0138	21	c.134 others(42): Show c.1340+12854_1340+12855insGATAGATAAACAGTATGTTTA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80691948	T T	TATAGATA others(14): Show TATAGATAAACAGTATGTTTAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01099.hp1 others(8): Show HG00735.hp1 HG00741.hp1 HG01099.hp1 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG01515.hp1 HG03130.hp2 HG03710.hp2 NA18971.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0026	a0001c0001t0002g0043 a0001c0001t0005g0311 a0001c0001t0006g0325 others(8): Show a0001c0001t0002g0043 a0001c0001t0005g0311 a0001c0001t0006g0325 a0001c0001t0006g0326 a0001c0001t0006g0327 a0001c0001t0006g0328 a0001c0001t0006g0330 a0001c0001t0006g0333 a0001c0001t0006g0336 a0001c0001t0008g0329 a0001c0001t0026g0324	11	362	0.0304	21	c.134 others(42): Show c.1340+12866_1340+12867insGTATGTTTAGATAGATAAACA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80691963	A A	ATATGTTT others(14): Show ATATGTTTAGATAGATAAACAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0320 a0001c0001t0008g0320	1	362	0.0028	21	c.134 others(42): Show c.1340+12878_1340+12879insGATAGATAAACAGTATGTTTA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80692011	A A	ATATGTTT others(14): Show ATATGTTTAGATAGATAAACAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 NA20905.hp1 HG01891.hp1 HG02055.hp2 NA20905.hp1	a0002 a0003 a0002 a0003	a0002c0009 a0002c0025 a0003c0004 a0002c0009 a0002c0025 a0003c0004	a0002c0009t0009 a0002c0025t0009 a0003c0004t0004 a0002c0009t0009 a0002c0025t0009 a0003c0004t0004	a0002c0009t0009g0221 a0002c0025t0009g0213 a0003c0004t0004g0277 a0002c0009t0009g0221 a0002c0025t0009g0213 a0003c0004t0004g0277	3	362	0.0083	21	c.134 others(42): Show c.1340+12939_1340+12959dupGTATGTTTAGATAGATAAACA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80762825	G G	GTTATGTT others(14): Show GTTATGTTATGTTATGTTATTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0226 a0003c0004t0004g0226	1	362	0.0028	21	c.189 others(40): Show c.1896+1156_1896+1157insGTTATGTTATTTTTATGTTAT	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80784212	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01433.hp2 HG01978.hp1 others(5): Show HG01346.hp2 HG01433.hp2 HG01978.hp1 NA18949.hp2 NA19007.hp2 NA19066.hp2 NA19068.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0105 a0001c0002t0001g0106 others(5): Show a0001c0002t0001g0102 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0123 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0150	8	362	0.0221	21	c.243 others(40): Show c.2436-3346_2436-3326dupAAAAAAAAAAAAAAAAAAAAA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH5_chr6_31735005_31767676	31746080	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0086 a0002c0003t0001g0086	1	397	0.0025	21	c.766 others(36): Show c.766+761_766+762insGTGTGTGTGTGTGTGTGTGTG	MSH5	ENSG00000204410.16	transcript	ENST00000375750.9	protein_coding	9/24			chr6	TogoVar
MSH6_chr2_47778145_47811953	47788906	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19012.hp2 NA19003.hp1 NA19012.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0198 a0002c0003t0001g0247 a0002c0003t0001g0198 a0002c0003t0001g0247	2	390	0.0051	21	c.261 others(38): Show c.261-2021_261-2020insTTTTTTTTTTTTTTGTTTTTT	MSH6	ENSG00000116062.19	transcript	ENST00000234420.11	protein_coding	1/9			chr2	TogoVar
MSH6_chr2_47778145_47811953	47788918	T T	TTTGTTTT others(14): Show TTTGTTTTTTTTGTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	390	0.0026	21	c.261 others(38): Show c.261-2007_261-2006insGTTTTTTTTGTTTTTTTTGTT	MSH6	ENSG00000116062.19	transcript	ENST00000234420.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH6_chr2_47778145_47811953	47806699	C C	CCTAACTG others(14): Show CCTAACTGACCTTAAGTTTCAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02717.hp1 HG03225.hp1 others(1): Show HG02145.hp1 HG02717.hp1 HG03225.hp1 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0358 a0001c0004t0001g0359 a0001c0004t0001g0360 others(1): Show a0001c0004t0001g0358 a0001c0004t0001g0359 a0001c0004t0001g0360 a0001c0004t0001g0361	4	390	0.0103	21	c.400 others(36): Show c.4001+48_4001+49insCTAACTGACCTTAAGTTTCAA	MSH6	ENSG00000116062.19	transcript	ENST00000234420.11	protein_coding	9/9			chr2	TogoVar

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