Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
MPV17L2_chr19_18188218_18201948	18201259	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00735.hp1 others(11): Show HG00544.hp2 HG00558.hp1 HG00735.hp1 HG00735.hp2 HG01175.hp2 HG01243.hp2 HG01952.hp2 HG02293.hp1 HG02451.hp2 HG04115.hp2 NA18906.hp2 NA18950.hp1 NA18986.hp2 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0002c0002t0004 a0002c0002t0010 a0002c0002t0013	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0011g0002 others(5): Show a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0011g0002 a0002c0002t0004g0003 a0002c0002t0004g0014 a0002c0002t0010g0003 a0002c0002t0010g0004 a0002c0002t0013g0004	14	378	0.0370	19	c.52 others(30): Show c.5204_*5205insAAGAAAGAAAGAAAGAAAG	MPV17L2	ENSG00000254858.10	transcript	ENST00000599612.3	protein_coding		4312		chr19	TogoVar
MPV17_chr2_27304492_27328097	27309371	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	302	0.0033	19	c.54 others(28): Show c.540_*541insTTTTTTTTTTTTTTTTTTT	MPV17	ENSG00000115204.15	transcript	ENST00000380044.6	protein_coding		120		chr2	TogoVar
MPZ_chr1_161299735_161314968	161309552	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	444	0.0023	19	c.67+ others(32): Show c.67+286_67+287insAAAAAAAAATATATATATA	MPZ	ENSG00000158887.19	transcript	ENST00000533357.5	protein_coding	1/5			chr1	TogoVar
MPZ_chr1_161299735_161314968	161309552	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	444	0.0023	19	c.67+ others(32): Show c.67+286_67+287insAAAAAAAAAAATATATATA	MPZ	ENSG00000158887.19	transcript	ENST00000533357.5	protein_coding	1/5			chr1	TogoVar
MPZ_chr1_161299735_161314968	161309552	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	444	0.0023	19	c.67+ others(32): Show c.67+286_67+287insAAAAAAAAAAAAATATATA	MPZ	ENSG00000158887.19	transcript	ENST00000533357.5	protein_coding	1/5			chr1	TogoVar
MPZ_chr1_161299735_161314968	161309552	A A	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0074 a0001c0001t0007g0074	1	444	0.0023	19	c.67+ others(32): Show c.67+286_67+287insAAAAAAAAAAAAAAATATA	MPZ	ENSG00000158887.19	transcript	ENST00000533357.5	protein_coding	1/5			chr1	TogoVar
MREG_chr2_215937584_216018551	215984518	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0362 a0002c0002t0009g0362	1	416	0.0024	19	c.255 others(38): Show c.255+11769_255+11787dupTTTTTTTTTTTTTTTTTTT	MREG	ENSG00000118242.17	transcript	ENST00000263268.11	protein_coding	2/4			chr2	TogoVar
MRGPRG_chr11_3212944_3223813	3216950	T T	TCTTTCTT others(12): Show TCTTTCTTTCTTTCTTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0004 a0004	a0004c0000 a0004c0000	a0004c0000t0000 a0004c0000t0000	a0004c0000t0000g0000 a0004c0000t0000g0000	1	426	0.0024	19	c.99 others(28): Show c.993_*994insGAAAAAGAAAGAAAGAAAG	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		993		chr11	TogoVar
MRGPRX2_chr11_19049455_19065717	19049786	T T	TGTAATAA others(12): Show TGTAATAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	458	0.0022	19	c.56 others(30): Show c.5623_*5624insTTTTTTTTTTTTTTATTAC	MRGPRX2	ENSG00000183695.3	transcript	ENST00000329773.3	protein_coding		4668		chr11	TogoVar
MRI1_chr19_13759522_13779282	13767037	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0186 a0003c0003t0011g0186	1	460	0.0022	19	c.547 others(34): Show c.547+909_547+910insATATATATATATATATTTT	MRI1	ENSG00000037757.14	transcript	ENST00000040663.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
MRI1_chr19_13759522_13779282	13767038	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	460	0.0022	19	c.547 others(34): Show c.547+909_547+910insATATATATATATATATATA	MRI1	ENSG00000037757.14	transcript	ENST00000040663.8	protein_coding	3/5			chr19	TogoVar
MROH1_chr8_144143016_144266926	144181278	A A	AGTGATGG others(12): Show AGTGATGGGGGAGGGGCCCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(100): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03098.hp2 HG03130.hp2 HG03453.hp1 HG03471.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18950.hp1 NA18950.hp2 NA18959.hp1 NA18959.hp2 NA19009.hp1 NA19009.hp2 NA19057.hp1 NA19057.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19240.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0006 a0008 a0012 a0013 a0014 a0015 a0016 a0017	a0001c0001 a0001c0002 a0001c0016 others(12): Show a0001c0001 a0001c0002 a0001c0016 a0001c0025 a0002c0006 a0003c0003 a0005c0026 a0006c0010 a0008c0017 a0012c0021 a0013c0028 a0014c0018 a0015c0023 a0016c0024 a0017c0022	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(14): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0016t0001 a0001c0025t0001 a0002c0006t0001 a0003c0003t0001 a0005c0026t0001 a0006c0010t0001 a0008c0017t0001 a0012c0021t0001 a0013c0028t0001 a0014c0018t0001 a0015c0023t0001 a0016c0024t0001 a0017c0022t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(100): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0002t0001g0042 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0091 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0001g0110 a0001c0002t0001g0113 a0001c0002t0001g0120 a0001c0002t0001g0122 a0001c0002t0001g0126 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0002g0060 a0001c0002t0003g0072 a0001c0016t0001g0112 a0001c0025t0001g0105 a0002c0006t0001g0066 a0002c0006t0001g0123 a0003c0003t0001g0008 a0003c0003t0001g0052 a0003c0003t0001g0069 a0003c0003t0001g0075 a0003c0003t0001g0078 a0003c0003t0001g0090 a0003c0003t0001g0092 a0003c0003t0001g0114 a0003c0003t0001g0119 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0132 a0005c0026t0001g0107 a0006c0010t0001g0130 a0008c0017t0001g0083 a0012c0021t0001g0121 a0013c0028t0001g0011 a0014c0018t0001g0111 a0015c0023t0001g0093 a0016c0024t0001g0139 a0017c0022t0001g0089	103	140	0.7357	19	c.562 others(34): Show c.562+773_562+791dupCGGTGATGGGGGAGGGGCC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	7/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144195195	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00609.hp2 others(13): Show HG00280.hp1 HG00408.hp1 HG00609.hp2 HG00642.hp1 HG01074.hp2 HG01978.hp2 HG01993.hp1 HG02074.hp1 HG02572.hp2 HG02683.hp1 HG03688.hp1 HG03688.hp2 NA18950.hp1 NA18959.hp1 NA19009.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0001 a0001c0002 a0003c0003 others(1): Show a0001c0001 a0001c0002 a0003c0003 a0012c0021	a0001c0001t0001 a0001c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0003c0003t0001 a0012c0021t0001	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0085 others(13): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0124 a0001c0002t0001g0042 a0001c0002t0001g0049 a0001c0002t0001g0061 a0001c0002t0001g0064 a0001c0002t0001g0076 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0104 a0003c0003t0001g0132 a0012c0021t0001g0121	16	140	0.1143	19	c.948 others(36): Show c.948+2800_948+2818dupAAAAAAAAAAAAAAAAAAA	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	10/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144218821	T T	TCCCCTCC others(12): Show TCCCCTCCCCTCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	140	0.0071	19	c.114 others(38): Show c.1142-1763_1142-1762insCTCCCCCTCCCCTCCTCCC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144234498	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTGTTTGTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	140	0.0071	19	c.133 others(38): Show c.1339-4246_1339-4245insGTTTGTTTTTTTTTTTTTT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	14/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144234498	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00735.hp2 others(2): Show HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01891.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0124 a0001c0002t0001g0047 a0001c0002t0001g0055 others(2): Show a0001c0001t0001g0124 a0001c0002t0001g0047 a0001c0002t0001g0055 a0001c0002t0001g0091 a0001c0002t0001g0135	5	140	0.0357	19	c.133 others(38): Show c.1339-4240_1339-4222dupTTTTTTTTTTTTTTTTTTT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	14/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH2A_chr2_233773330_233838418	233787819	A A	ATCATATA others(12): Show ATCATATATACATATATATT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0270 a0007c0010t0001g0270	1	378	0.0027	19	c.277 others(36): Show c.277-1678_277-1677insTCATATATACATATATATT	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41			chr2	TogoVar
MROH2A_chr2_233773330_233838418	233787844	T T	TTATATAT others(12): Show TTATATATATACATATATTA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01433.hp1 HG02451.hp2 others(1): Show HG01255.hp2 HG01433.hp1 HG02451.hp2 NA18946.hp2	a0001 a0007 a0070 a0001 a0007 a0070	a0001c0001 a0001c0003 a0007c0010 others(1): Show a0001c0001 a0001c0003 a0007c0010 a0070c0094	a0001c0001t0001 a0001c0003t0001 a0007c0010t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0007c0010t0001 a0070c0094t0001	a0001c0001t0001g0230 a0001c0003t0001g0264 a0007c0010t0001g0270 others(1): Show a0001c0001t0001g0230 a0001c0003t0001g0264 a0007c0010t0001g0270 a0070c0094t0001g0241	4	378	0.0106	19	c.277 others(36): Show c.277-1645_277-1644insTACATATATTATATATATA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH2B_chr5_40993020_41076342	41057563	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0004 a0004	a0004c0037 a0004c0037	a0004c0037t0001 a0004c0037t0001	a0004c0037t0001g0159 a0004c0037t0001g0159	1	396	0.0025	19	c.757 others(34): Show c.757-204_757-203insAAAAAAAAAAAAAAAAAAA	MROH2B	ENSG00000171495.17	transcript	ENST00000399564.5	protein_coding	7/41			chr5	TogoVar
MROH7_chr1_54636786_54715266	54699094	T T	TTTTCTTT others(12): Show TTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0055 a0055	a0055c0061 a0055c0061	a0055c0061t0001 a0055c0061t0001	a0055c0061t0001g0328 a0055c0061t0001g0328	1	380	0.0026	19	c.296 others(38): Show c.2965-1209_2965-1208insCTTTCTTTCTTTCTTTCTT	MROH7	ENSG00000184313.20	transcript	ENST00000421030.7	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
MROH7_chr1_54636786_54715266	54699159	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01978.hp1 HG01978.hp2 others(2): Show HG01123.hp2 HG01978.hp1 HG01978.hp2 HG02809.hp2 HG02965.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0004 a0001c0001 a0002c0002 a0006c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0006c0004t0003	a0001c0001t0001g0278 a0001c0001t0002g0117 a0002c0002t0001g0296 others(2): Show a0001c0001t0001g0278 a0001c0001t0002g0117 a0002c0002t0001g0296 a0006c0004t0003g0193 a0006c0004t0003g0198	5	380	0.0132	19	c.296 others(38): Show c.2965-1160_2965-1159insCTTTCTTTCTTTCTTTCTT	MROH7	ENSG00000184313.20	transcript	ENST00000421030.7	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL14_chr6_44108451_44132452	44123262	G G	GCAACAAG others(12): Show GCAACAAGGCCCAGACCAGA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	436	0.0023	19	c.-19 others(36): Show c.-19+4063_-19+4081dupTCTGGTCTGGGCCTTGTTG	MRPL14	ENSG00000180992.7	transcript	ENST00000372014.5	protein_coding	1/2			chr6	TogoVar
MRPL15_chr8_54130241_54153514	54146108	A A	AGATACTG others(12): Show AGATACTGTTCCAGCTGATG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01109.hp1 HG02630.hp2 HG01069.hp1 HG01109.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059	3	390	0.0077	19	c.554 others(36): Show c.554-1271_554-1253dupTACTGTTCCAGCTGATGGA	MRPL15	ENSG00000137547.9	transcript	ENST00000260102.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
MRPL36_chr5_1793385_1804837	1799784	T T	TCCCTTAC others(12): Show TCCCTTACCCGGGCCACACG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	432	0.0023	19	c.-13 others(30): Show c.-13+7_-13+8insCGTGTGGCCCGGGTAAGGG	MRPL36	ENSG00000171421.13	transcript	ENST00000505059.7	protein_coding	1/1			chr5	TogoVar
MRPL39_chr21_25580656_25612481	25607306	T T	TGCCCCGC others(12): Show TGCCCCGCGGAACCTCCCCG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	400	0.0025	19	c.73+ others(30): Show c.73+96_73+97insCGGGGAGGTTCCGCGGGGC	MRPL39	ENSG00000154719.14	transcript	ENST00000352957.9	protein_coding	1/9			chr21	TogoVar
MRPL44_chr2_223952463_223972714	223969549	T T	TCCCCACC others(12): Show TCCCCACCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	424	0.0024	19	c.25 others(30): Show c.2515_*2516insCCCCACCCCCCCCCCCCCC	MRPL44	ENSG00000135900.4	transcript	ENST00000258383.4	protein_coding		1836		chr2	TogoVar
MRPL44_chr2_223952463_223972714	223969549	T T	TCCCCCCC others(12): Show TCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	424	0.0024	19	c.25 others(30): Show c.2515_*2516insCCCCCCCCCCCCCCCCCCC	MRPL44	ENSG00000135900.4	transcript	ENST00000258383.4	protein_coding		1836		chr2	TogoVar
MRPL44_chr2_223952463_223972714	223969554	G G	GCCCCCCC others(12): Show GCCCCCCCCACCCCACCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0032 a0001c0002t0003g0032	1	424	0.0024	19	c.25 others(30): Show c.2520_*2521insCCCCCCCCACCCCACCCCC	MRPL44	ENSG00000135900.4	transcript	ENST00000258383.4	protein_coding		1841		chr2	TogoVar
MRPL44_chr2_223952463_223972714	223969554	G G	GCCCCCCC others(12): Show GCCCCCCCCACCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 NA19062.hp1 HG01261.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0069 a0001c0001t0001g0001 a0001c0001t0001g0069	2	424	0.0047	19	c.25 others(30): Show c.2520_*2521insCCCCCCCCACCCCCCCCCC	MRPL44	ENSG00000135900.4	transcript	ENST00000258383.4	protein_coding		1841		chr2	TogoVar
MRPL44_chr2_223952463_223972714	223969554	G G	GCCCCCCC others(12): Show GCCCCCCCCCACCCCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	424	0.0024	19	c.25 others(30): Show c.2520_*2521insCCCCCCCCCACCCCCCCAC	MRPL44	ENSG00000135900.4	transcript	ENST00000258383.4	protein_coding		1841		chr2	TogoVar
MRPL44_chr2_223952463_223972714	223969554	G G	GCCCCCCC others(12): Show GCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	424	0.0024	19	c.25 others(30): Show c.2520_*2521insCCCCCCCCCCCCCCCCCCC	MRPL44	ENSG00000135900.4	transcript	ENST00000258383.4	protein_coding		1841		chr2	TogoVar
MRPL52_chr14_22824887_22840037	22825421	A A	ATATATAT others(12): Show ATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	458	0.0022	19	c.-44 others(30): Show c.-4492_-4491insTATATATATATATATATAT	MRPL52	ENSG00000172590.18	transcript	ENST00000397496.7	protein_coding		4465		chr14	TogoVar
MRPL52_chr14_22824887_22840037	22825425	A A	ATATATAT others(12): Show ATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 NA18968.hp2 HG02647.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0018 a0001c0001t0002g0003 a0001c0001t0002g0018	2	458	0.0044	19	c.-44 others(30): Show c.-4488_-4487insTATATATATATATATATAT	MRPL52	ENSG00000172590.18	transcript	ENST00000397496.7	protein_coding		4461		chr14	TogoVar
MRPL9_chr1_151754647_151768496	151760903	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp1 HG00438.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0061 a0004c0005t0001g0061	1	436	0.0023	19	c.589 others(31): Show c.589-23_589-5dupTTTTTTTTTTTTTTTTTTT	MRPL9	ENSG00000143436.11	transcript	ENST00000368830.8	protein_coding	5/6			chr1	TogoVar
MRPS12_chr19_38925944_38938168	38928110	G G	GGCTCATG others(12): Show GGCTCATGCCTGTAATCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	19	c.-29 others(30): Show c.-2908_-2907insGCTCATGCCTGTAATCCCA	MRPS12	ENSG00000128626.12	transcript	ENST00000308018.9	protein_coding		2833		chr19	TogoVar
MRPS21_chr1_150288861_150313979	150311769	G G	GTTGCTTC others(12): Show GTTGCTTCTGAGCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	386	0.0026	19	c.35 others(30): Show c.3541_*3542insTTGCTTCTGAGCTCCCTCC	MRPS21	ENSG00000266472.6	transcript	ENST00000614145.5	protein_coding		2791		chr1	TogoVar
MRPS28_chr8_79913717_80035259	80028645	C C	CGGGCGGG others(12): Show CGGGCGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00733.hp2 HG01109.hp1 others(22): Show HG00140.hp1 HG00733.hp2 HG01109.hp1 HG01175.hp2 HG01258.hp2 HG01433.hp2 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02273.hp1 HG02300.hp2 HG02895.hp1 HG03453.hp2 HG03490.hp1 HG03834.hp1 HG03927.hp1 NA18906.hp1 NA18962.hp1 NA18965.hp2 NA18972.hp2 NA19003.hp1 NA19063.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 others(22): Show a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0002c0002t0001g0238 a0002c0002t0001g0239 a0003c0003t0001g0286 a0003c0003t0001g0287	25	300	0.0833	19	c.213 others(36): Show c.213+1390_213+1391insCCCCCCCCCCCCCCCGCCC	MRPS28	ENSG00000147586.10	transcript	ENST00000276585.9	protein_coding	1/2			chr8	TogoVar
MRPS28_chr8_79913717_80035259	80028648	G G	GCGGGGGG others(12): Show GCGGGGGGGGGGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02818.hp1 NA19240.hp1 HG02615.hp2 HG02818.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0263 a0001c0001t0001g0273 a0001c0001t0001g0274	3	300	0.0100	19	c.213 others(36): Show c.213+1387_213+1388insGCCCCCCCCCCCCCCCCCG	MRPS28	ENSG00000147586.10	transcript	ENST00000276585.9	protein_coding	1/2			chr8	TogoVar
MRPS28_chr8_79913717_80035259	80028649	C C	CGGGGGGG others(12): Show CGGGGGGGGGGGGGGGGGCG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02970.hp2 NA19011.hp1 others(2): Show HG01069.hp1 HG02970.hp2 NA19011.hp1 NA19062.hp2 NA19068.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0003 a0003c0003t0001 a0001c0001t0001 a0002c0002t0003 a0003c0003t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0002c0002t0003g0217 a0003c0003t0001g0282	5	300	0.0167	19	c.213 others(36): Show c.213+1386_213+1387insCGCCCCCCCCCCCCCCCCC	MRPS28	ENSG00000147586.10	transcript	ENST00000276585.9	protein_coding	1/2			chr8	TogoVar
MRPS28_chr8_79913717_80035259	80028649	C C	CGGGGGGG others(12): Show CGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp2 HG01496.hp1 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0007 a0001c0001t0001g0008	2	300	0.0067	19	c.213 others(36): Show c.213+1386_213+1387insCCCCCCCCCCCCCCCCCCC	MRPS28	ENSG00000147586.10	transcript	ENST00000276585.9	protein_coding	1/2			chr8	TogoVar
MRPS28_chr8_79913717_80035259	80028650	G G	GGGGGGGG others(12): Show GGGGGGGGGGGGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02976.hp2 HG02895.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0003 a0001c0001t0001g0004	2	300	0.0067	19	c.213 others(36): Show c.213+1385_213+1386insGCCCCCCCCCCCCCCCCCC	MRPS28	ENSG00000147586.10	transcript	ENST00000276585.9	protein_coding	1/2			chr8	TogoVar
MRPS6_chr21_34068578_34148030	34068799	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG03041.hp2 HG02896.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	296	0.0068	19	c.-49 others(30): Show c.-4902_-4901insAAAAAAAAAAAAAAAAAAA	MRPS6	ENSG00000243927.6	transcript	ENST00000399312.3	protein_coding		4778		chr21	TogoVar
MRTFA_chr22_40405289_40641719	40546870	T T	TTATTGCC others(12): Show TTATTGCCAGGCGCGGTGGA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	256	0.0039	19	c.241 others(36): Show c.241+5217_241+5235dupTCCACCGCGCCTGGCAATA	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFB_chr16_14066319_14271773	14127930	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	240	0.0042	19	c.-63 others(38): Show c.-63-12614_-63-12613insATATATATATATATATATA	MRTFB	ENSG00000186260.17	transcript	ENST00000571589.6	protein_coding	2/16			chr16	TogoVar
MRTFB_chr16_14066319_14271773	14243864	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01255.hp2 HG02015.hp2 others(12): Show HG00673.hp2 HG01255.hp2 HG02015.hp2 HG03710.hp1 NA18942.hp1 NA18944.hp2 NA18974.hp1 NA18977.hp1 NA18982.hp1 NA18994.hp2 NA18999.hp2 NA19004.hp1 NA19058.hp2 NA19089.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0011 a0001c0002 a0001c0004 a0002c0011	a0001c0002t0002 a0001c0002t0011 a0001c0004t0002 others(1): Show a0001c0002t0002 a0001c0002t0011 a0001c0004t0002 a0002c0011t0002	a0001c0002t0002g0009 a0001c0002t0002g0014 a0001c0002t0002g0020 others(12): Show a0001c0002t0002g0009 a0001c0002t0002g0014 a0001c0002t0002g0020 a0001c0002t0002g0026 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0044 a0001c0002t0002g0056 a0001c0002t0002g0224 a0001c0002t0011g0047 a0001c0004t0002g0032 a0002c0011t0002g0201	15	240	0.0625	19	c.108 others(38): Show c.1080-1651_1080-1650insTTTTTTTTTTTTTTTTTTT	MRTFB	ENSG00000186260.17	transcript	ENST00000571589.6	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MS4A5_chr11_60424572_60452792	60445032	A A	AGCATGAA others(12): Show AGCATGAATGAATTTCTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	462	0.0022	19	c.493 others(36): Show c.493-2617_493-2616insGCATGAATGAATTTCTGTG	MS4A5	ENSG00000166930.7	transcript	ENST00000300190.7	protein_coding	4/4			chr11	TogoVar
MSANTD4_chr11_106002899_106027240	106022839	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01346.hp2 HG01361.hp1 others(3): Show HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01981.hp1 HG01981.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0001 a0001c0001t0001g0066 a0001c0001t0001g0068	6	384	0.0156	19	c.-20 others(30): Show c.-2029_-2028insAAAAAAAAAAAAAAAAAAA	MSANTD4	ENSG00000170903.12	transcript	ENST00000301919.9	protein_coding		600		chr11	TogoVar
MSH2_chr2_47398156_47488223	47413548	G G	GGTTTTTT others(12): Show GGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	370	0.0027	19	c.793 others(34): Show c.793-721_793-720insGTTTTTTTTTTTTTTTTTT	MSH2	ENSG00000095002.15	transcript	ENST00000233146.7	protein_coding	4/15			chr2	TogoVar
MSH2_chr2_47398156_47488223	47413548	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18948.hp2 HG00408.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0204 a0001c0001t0001g0184 a0001c0001t0001g0204	2	370	0.0054	19	c.793 others(34): Show c.793-706_793-688dupTTTTTTTTTTTTTTTTTTT	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(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19084.hp1 HG00621.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0255 a0001c0001t0001g0241 a0001c0001t0001g0255	2	370	0.0054	19	c.138 others(38): Show c.1386+3369_1386+3370insAAAAAAAAAAAAAAAAAAA	MSH2	ENSG00000095002.15	transcript	ENST00000233146.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr2	TogoVar

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