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
MGAT5_chr2_134249072_134459621	134381364	T T	TAGATAGA others(18): Show TAGATAGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0152 a0001c0001t0028g0152	1	261	0.0038	25	c.138 others(46): Show c.1380+18961_1380+18962insGATAGATAGATAGATAGATAAGAT A	MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MGAT5_chr2_134249072_134459621	134387332	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03669.hp1 NA19081.hp2 others(1): Show HG00438.hp2 HG03669.hp1 NA19081.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0018 a0001c0001t0001 a0001c0001t0011 a0001c0001t0018	a0001c0001t0001g0170 a0001c0001t0011g0075 a0001c0001t0011g0163 others(1): Show a0001c0001t0001g0170 a0001c0001t0011g0075 a0001c0001t0011g0163 a0001c0001t0018g0219	4	96	0.0417	25	c.138 others(46): Show c.1381-15655_1381-15654insATATATATATATATATTTTTTTTT T	MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MGA_chr15_41655405_41774940	41656344	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02132.hp1 HG03710.hp2 others(6): Show HG02074.hp2 HG02132.hp1 HG03710.hp2 NA18612.hp2 NA18945.hp1 NA18948.hp1 NA18969.hp2 NA18980.hp2 NA20905.hp2	a0001 a0009 a0035 a0001 a0009 a0035	a0001c0001 a0009c0009 a0035c0036 a0001c0001 a0009c0009 a0035c0036	a0001c0001t0001 a0001c0001t0002 a0009c0009t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0009c0009t0002 a0035c0036t0002	a0001c0001t0001g0134 a0001c0001t0002g0097 a0001c0001t0002g0130 others(6): Show a0001c0001t0001g0134 a0001c0001t0002g0097 a0001c0001t0002g0130 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0149 a0009c0009t0002g0116 a0035c0036t0002g0092	9	56	0.1607	25	c.-42 others(36): Show c.-4249_-4248insCTCTCTCTCTCTCTCTCTCTCTCTC	MGA	ENSG00000174197.19	transcript	ENST00000703841.1	protein_coding		4060		chr15	TogoVar
MGA_chr15_41655405_41774940	41762461	G G	GTTTTTTG others(18): Show GTTTTTTGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	51	0.0196	25	c.789 others(42): Show c.7891+105_7891+106insGTTTTTTTTTTTTTTTTTTTTTTTT	MGA	ENSG00000174197.19	transcript	ENST00000703841.1	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
MGME1_chr20_17964018_17996122	17983267	T T	TTTGTGTG others(18): Show TTTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0093 a0001c0002t0003g0093	1	121	0.0083	25	c.732 others(42): Show c.732-4898_732-4897insTGTGTGTGTGTGTGTGTGTGTGTGT	MGME1	ENSG00000125871.14	transcript	ENST00000377710.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
MGMT_chr10_129462241_129775983	129646754	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	141	0.0071	25	c.126 others(44): Show c.126-61140_126-61139insATATATATATTTTTTTTTTTTTTTT	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MGMT_chr10_129462241_129775983	129646754	A A	ATATATAT others(18): Show ATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0046 a0002c0002t0004g0046	1	141	0.0071	25	c.126 others(44): Show c.126-61140_126-61139insATATATATTTTTTTTTTTTTTTTTT	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MGST2_chr4_139660819_139709243	139702844	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG01257.hp1 others(7): Show HG00099.hp2 HG00558.hp2 HG01257.hp1 HG01515.hp1 HG01517.hp2 HG03017.hp2 HG03225.hp2 HG03239.hp1 NA18962.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0038 a0001c0001t0001g0175 a0001c0001t0001g0208 others(7): Show a0001c0001t0001g0038 a0001c0001t0001g0175 a0001c0001t0001g0208 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0289 a0001c0001t0001g0318 a0001c0001t0002g0136 a0001c0001t0002g0380	10	157	0.0637	25	c.230 others(40): Show c.230-609_230-585dupTTTTTTTTTTTTTTTTTTTTTTTTT	MGST2	ENSG00000085871.9	transcript	ENST00000265498.6	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
MICAL2_chr11_12105590_12268785	12180349	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0342 a0001c0009t0001g0342	1	221	0.0045	25	c.264 others(44): Show c.264+17931_264+17932insATATATATATATATATATATATTTT	MICAL2	ENSG00000133816.19	transcript	ENST00000683283.1	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
MICAL2_chr11_12105590_12268785	12180350	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0086 a0001c0005t0001g0086	1	334	0.0030	25	c.264 others(44): Show c.264+17931_264+17932insATATATATATATATATATATATATA	MICAL2	ENSG00000133816.19	transcript	ENST00000683283.1	protein_coding	3/27			chr11	TogoVar
MICAL3_chr22_17782649_18029561	17866608	C C	CAGAATAG others(18): Show CAGAATAGAATAGAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02109.hp2 HG02257.hp2 others(8): Show HG01346.hp2 HG02109.hp2 HG02257.hp2 HG02976.hp1 HG03669.hp2 NA18944.hp2 NA18948.hp2 NA18969.hp1 NA18985.hp1 NA19010.hp1 NA19066.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0015 others(3): Show a0001c0001 a0001c0002 a0001c0015 a0002c0010 a0002c0048 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0006 a0001c0002t0025 a0001c0015t0003 a0002c0010t0001 a0002c0010t0002 a0002c0048t0002 a0004c0007t0031	a0001c0001t0001g0053 a0001c0001t0002g0149 a0001c0002t0001g0178 others(8): Show a0001c0001t0001g0053 a0001c0001t0002g0149 a0001c0002t0001g0178 a0001c0002t0006g0091 a0001c0002t0025g0266 a0001c0015t0003g0086 a0002c0010t0001g0127 a0002c0010t0001g0141 a0002c0010t0002g0096 a0002c0048t0002g0076 a0004c0007t0031g0172	11	182	0.0604	25	c.242 others(42): Show c.2429-597_2429-596insATTCTATTCTATTCTATTCTATTCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	17/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17866613	C C	CAGAATAG others(18): Show CAGAATAGAATAGAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19043.hp2 HG03225.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0016 a0001c0001 a0002c0016	a0001c0001t0008 a0002c0016t0003 a0001c0001t0008 a0002c0016t0003	a0001c0001t0008g0028 a0002c0016t0003g0003 a0001c0001t0008g0028 a0002c0016t0003g0003	2	60	0.0333	25	c.242 others(42): Show c.2429-626_2429-602dupATTCTATTCTATTCTATTCTATTCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	17/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17982679	T T	TCATAACA others(18): Show TCATAACATAACATAACATAACATAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02258.hp1 others(3): Show HG01884.hp1 HG02109.hp2 HG02258.hp1 HG02723.hp2 HG02922.hp1 NA19090.hp2	a0001 a0004 a0006 others(3): Show a0001 a0004 a0006 a0012 a0013 a0024	a0001c0001 a0004c0007 a0006c0027 others(3): Show a0001c0001 a0004c0007 a0006c0027 a0012c0028 a0013c0026 a0024c0039	a0001c0001t0006 a0004c0007t0031 a0006c0027t0002 others(3): Show a0001c0001t0006 a0004c0007t0031 a0006c0027t0002 a0012c0028t0035 a0013c0026t0002 a0024c0039t0002	a0001c0001t0006g0263 a0004c0007t0031g0172 a0006c0027t0002g0077 others(3): Show a0001c0001t0006g0263 a0004c0007t0031g0172 a0006c0027t0002g0077 a0012c0028t0035g0272 a0013c0026t0002g0002 a0024c0039t0002g0023	6	141	0.0426	25	c.-75 others(44): Show c.-75+41577_-75+41601dupTTATGTTATGTTATGTTATGTTATG	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	1/31			chr22	TogoVar
MICU1_chr10_72362340_72631079	72492789	G G	GAATAAAA others(18): Show GAATAAAATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01346.hp2 HG03471.hp2 others(2): Show HG00639.hp1 HG01346.hp2 HG03471.hp2 HG06807.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0044 others(2): Show a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0066	5	99	0.0505	25	c.652 others(44): Show c.652+15341_652+15365dupTTATTTTATTTTATTTTATTTTATT	MICU1	ENSG00000107745.20	transcript	ENST00000361114.10	protein_coding	6/11			chr10	TogoVar
MID1_chrX_10440556_10625585	10533377	A A	AAAGAAAG others(18): Show AAAGAAAGAAAGAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0115 a0001c0002t0009g0115	1	156	0.0064	25	c.661 others(44): Show c.661-10191_661-10190insCTTTCTTTCTTTCTCTTTCTTTCTT	MID1	ENSG00000101871.18	transcript	ENST00000317552.9	protein_coding	2/9			chrX	TogoVar
MID2_chrX_107820866_107936637	107906841	C C	CTCCCAAA others(18): Show CTCCCAAACTGTTGGGATTACAGGCG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	179	0.0056	25	c.107 others(44): Show c.1073+1217_1073+1241dupCCCAAACTGTTGGGATTACAGGCGT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MIEN1_chr17_39723510_39735532	39724272	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA19002.hp1 NA18972.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	138	0.0145	25	c.52 others(36): Show c.5249_*5250insAAAAAAAAAAAAAAAAAAAAAAAAA	MIEN1	ENSG00000141741.12	transcript	ENST00000394231.8	protein_coding		4237		chr17	TogoVar
MIER1_chr1_66919990_66993619	66972239	T T	TATATATA others(18): Show TATATATATATATATATATACACTAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	246	0.0041	25	c.100 others(42): Show c.1006+522_1006+523insCACTACATATATATATATATATATA	MIER1	ENSG00000198160.15	transcript	ENST00000401041.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
MINAR1_chr15_79427336_79477304	79470476	C C	CAAATCCA others(18): Show CAAATCCACCCCAAATCTTCCATTTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02630.hp2 HG03453.hp2 others(1): Show HG01891.hp1 HG02630.hp2 HG03453.hp2 NA19043.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0141 a0001c0006t0010g0212 a0001c0006t0010g0214 others(1): Show a0001c0006t0010g0141 a0001c0006t0010g0212 a0001c0006t0010g0214 a0001c0006t0010g0243	4	388	0.0103	25	c.20 others(36): Show c.2094_*2118dupAATCCACCCCAAATCTTCCATTTAA	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	4/4	2119	INFO_REALIGN_3_PRIME	chr15	TogoVar
MINDY2_chr15_58766302_58866900	58852287	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0267 a0001c0001t0004g0267	1	17	0.0588	25	c.173 others(42): Show c.1737+340_1737+341insAAAAAAAAAAAAAAAAAAAAAAAAA	MINDY2	ENSG00000128923.11	transcript	ENST00000559228.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
MIX23_chr3_122354591_122388231	122356134	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02717.hp1 HG02970.hp2 HG01109.hp1 HG02717.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016	a0001c0001t0010g0007 a0001c0001t0011g0020 a0001c0001t0016g0151 a0001c0001t0010g0007 a0001c0001t0011g0020 a0001c0001t0016g0151	3	129	0.0233	25	c.37 others(36): Show c.3734_*3735insAAAAAAAAAAAAAAAAAAAAAAAAA	MIX23	ENSG00000160124.9	transcript	ENST00000291458.9	protein_coding		3456		chr3	TogoVar
MKKS_chr20_10396009_10439222	10427021	A A	ACTGACAC others(18): Show ACTGACACACACACAGACACACACAC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03486.hp2 NA18953.hp2 others(2): Show HG02523.hp1 HG03486.hp2 NA18953.hp2 NA19067.hp1 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0031 a0002c0002t0005g0311 a0002c0002t0005g0330 others(1): Show a0002c0002t0005g0031 a0002c0002t0005g0311 a0002c0002t0005g0330 a0002c0002t0005g0333	5	363	0.0138	25	c.-64 others(44): Show c.-648-6264_-648-6263insGTGTGTGTGTCTGTGTGTGTGTCAG	MKKS	ENSG00000125863.20	transcript	ENST00000347364.7	protein_coding	1/5			chr20	TogoVar
MKLN1_chr7_131322876_131501632	131411906	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19010.hp1 NA18982.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0002 a0001c0001t0020	a0001c0001t0002g0271 a0001c0001t0020g0227 a0001c0001t0002g0271 a0001c0001t0020g0227	2	15	0.1333	25	c.781 others(40): Show c.781+530_781+554dupAAAAAAAAAAAAAAAAAAAAAAAAA	MKLN1	ENSG00000128585.18	transcript	ENST00000352689.11	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
MKLN1_chr7_131322876_131501632	131422460	A A	AGGAGGAT others(18): Show AGGAGGATGGCTTGAGCCCAGAAGTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0284	1	318	0.0031	25	c.848 others(42): Show c.848-6572_848-6548dupGGAGGATGGCTTGAGCCCAGAAGTT	MKLN1	ENSG00000128585.18	transcript	ENST00000352689.11	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
MKNK1_chr1_46552407_46609268	46564044	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01515.hp1 HG02572.hp2 others(1): Show HG00408.hp2 HG01515.hp1 HG02572.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0067 a0001c0001t0002g0092 others(1): Show a0001c0001t0002g0035 a0001c0001t0002g0067 a0001c0001t0002g0092 a0001c0001t0002g0114	4	15	0.2667	25	c.609 others(40): Show c.609+996_609+997insTTTTTTTTTTTTTTTTTTTTTTTTT	MKNK1	ENSG00000079277.22	transcript	ENST00000371945.10	protein_coding	9/12			chr1	TogoVar
MLC1_chr22_50054391_50090426	50081009	A A	AAAGAGAA others(18): Show AAAGAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	65	0.0154	25	c.268 others(40): Show c.268-613_268-612insCTTTCTTTCTTTCTTTCTTTCTCTT	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	3/11			chr22	TogoVar
MLEC_chr12_120682149_120706859	120684030	T T	TAAATAAA others(18): Show TAAATAAAGATTATTTTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01517.hp2 HG01169.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0015 a0001c0001t0008g0006 a0001c0001t0002g0015 a0001c0001t0008g0006	2	402	0.0050	25	c.-32 others(36): Show c.-3267_-3266insAAATAAAGATTATTTTGTGTGTGTG	MLEC	ENSG00000110917.8	transcript	ENST00000228506.8	protein_coding		3118		chr12	TogoVar
MLEC_chr12_120682149_120706859	120684030	T T	TAAATAAA others(18): Show TAAATAAAGATTATTTTTTTTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	401	0.0025	25	c.-32 others(36): Show c.-3267_-3266insAAATAAAGATTATTTTTTTTGTGTG	MLEC	ENSG00000110917.8	transcript	ENST00000228506.8	protein_coding		3118		chr12	TogoVar
MLF1_chr3_158566194_158611456	158607230	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01071.hp1 HG01261.hp2 others(7): Show HG00558.hp2 HG01071.hp1 HG01261.hp2 HG02132.hp1 HG03492.hp1 HG03688.hp1 NA18952.hp1 NA18962.hp1 NA19066.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0011 others(5): Show a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0011 a0002c0002t0002g0031 a0002c0002t0002g0193 a0002c0002t0002g0195 a0002c0002t0002g0205 a0002c0002t0002g0210	10	249	0.0402	25	c.20 others(36): Show c.2028_*2029insAAAAAAAAAAAAAAAAAAAAAAAAA	MLF1	ENSG00000178053.21	transcript	ENST00000466246.7	protein_coding		775		chr3	TogoVar
MLIP_chr6_54106443_54271280	54251651	T T	TATATAAT others(18): Show TATATAATATAAATATATATTATAAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01123.hp1 HG01070.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0085 a0001c0001t0001g0089	2	246	0.0081	25	c.292 others(44): Show c.2923-5627_2923-5603dupAATATAAATATATATTATAACATAT	MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
MLIP_chr6_54106443_54271280	54251686	A A	ATGATATT others(18): Show ATGATATTATATATATTATATTATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0124 a0002c0003t0003g0124	1	235	0.0043	25	c.292 others(44): Show c.2923-5622_2923-5621insTGATATTATATATATTATATTATAT	MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding	12/13			chr6	TogoVar
MLPH_chr2_237482251_237560322	237556209	C C	CACAAGTT others(18): Show CACAAGTTAATATACTAGTAGGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	284	0.0035	25	c.26 others(36): Show c.2617_*2618insACAAGTTAATATACTAGTAGGTGAG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding		888		chr2	TogoVar
MLXIPL_chr7_73588202_73629522	73589196	A A	AATATAAA others(18): Show AATATAAAAATAAAATATATTTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0066 a0002c0002t0002g0066	1	258	0.0039	25	c.46 others(36): Show c.4668_*4669insATATAAATATATTTTATTTTTATAT	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding		4005		chr7	TogoVar
MLXIP_chr12_122073756_122152344	122121010	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01167.hp1 HG02027.hp1 others(10): Show HG00609.hp1 HG01167.hp1 HG02027.hp1 NA18612.hp1 NA18947.hp2 NA18951.hp1 NA18968.hp2 NA18972.hp2 NA18974.hp1 NA18995.hp1 NA19005.hp1 NA19009.hp1 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0010 a0002c0002t0002 a0002c0002t0010	a0002c0002t0002g0197 a0002c0002t0002g0221 a0002c0002t0002g0224 others(10): Show a0002c0002t0002g0197 a0002c0002t0002g0221 a0002c0002t0002g0224 a0002c0002t0002g0226 a0002c0002t0002g0245 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0254 a0002c0002t0002g0258 a0002c0002t0002g0266 a0002c0002t0002g0270 a0002c0002t0002g0278 a0002c0002t0010g0024	13	72	0.1806	25	c.414 others(42): Show c.414-6228_414-6227insTTTTTTTTTTTTTTTTTTTTTTTTT	MLXIP	ENSG00000175727.15	transcript	ENST00000319080.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
MMD_chr17_55387622_55426835	55426141	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0031 a0001c0001t0013g0031	1	49	0.0204	25	c.-44 others(36): Show c.-4447_-4446insAAAAAAAAAAAAAAAAAAAAAAAAA	MMD	ENSG00000108960.9	transcript	ENST00000262065.8	protein_coding		4307		chr17	TogoVar
MME_chr3_155075319_155188704	155133060	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19082.hp1 HG03453.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0061 a0001c0001t0003g0298 a0001c0001t0001g0061 a0001c0001t0003g0298	2	284	0.0070	25	c.721 others(42): Show c.721-5042_721-5041insTATATATATATATATATATATATAT	MME	ENSG00000196549.13	transcript	ENST00000360490.7	protein_coding	8/22			chr3	TogoVar
MME_chr3_155075319_155188704	155133062	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0165 a0001c0001t0015g0165	1	170	0.0059	25	c.721 others(42): Show c.721-5039_721-5038insAAAAAAATATATATATATATATATA	MME	ENSG00000196549.13	transcript	ENST00000360490.7	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
MME_chr3_155075319_155188704	155133062	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02615.hp1 HG02723.hp2 others(2): Show HG02055.hp2 HG02615.hp1 HG02723.hp2 HG02809.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0019 a0001c0001t0037 others(1): Show a0001c0001t0005 a0001c0001t0019 a0001c0001t0037 a0001c0001t0043	a0001c0001t0005g0295 a0001c0001t0019g0198 a0001c0001t0019g0201 others(2): Show a0001c0001t0005g0295 a0001c0001t0019g0198 a0001c0001t0019g0201 a0001c0001t0037g0199 a0001c0001t0043g0184	5	174	0.0287	25	c.721 others(42): Show c.721-5039_721-5038insAAAAATATATATATATATATATATA	MME	ENSG00000196549.13	transcript	ENST00000360490.7	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
MME_chr3_155075319_155188704	155133062	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	170	0.0059	25	c.721 others(42): Show c.721-5039_721-5038insAAATATATATATATATATATATATA	MME	ENSG00000196549.13	transcript	ENST00000360490.7	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
MME_chr3_155075319_155188704	155133062	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0236 a0001c0001t0003g0236	1	170	0.0059	25	c.721 others(42): Show c.721-5039_721-5038insATATATATATATATATATATATATA	MME	ENSG00000196549.13	transcript	ENST00000360490.7	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
MMP16_chr8_88027011_88332483	88184746	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	3	0.3333	25	c.404 others(42): Show c.404+1705_404+1729dupTTTTTTTTTTTTTTTTTTTTTTTTT	MMP16	ENSG00000156103.16	transcript	ENST00000286614.11	protein_coding	3/9			chr8	TogoVar
MMP17_chr12_131823393_131856771	131827362	G G	GGGGGGGG others(18): Show GGGGGGGGGGGGGGGGAGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0261 a0001c0013t0001g0261	1	394	0.0025	25	c.-11 others(36): Show c.-1133_-1132insGGGGGGGGGGGGGGGAGGGGGGGGT	MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding		1030		chr12	TogoVar
MMP17_chr12_131823393_131856771	131827363	G G	GGGGGGGG others(18): Show GGGGGGGGGGGGGGGAGGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0289 a0001c0003t0003g0289	1	393	0.0025	25	c.-11 others(36): Show c.-1132_-1131insGGGGGGGGGGGGGGAGGGGGGGGGT	MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding		1029		chr12	TogoVar
MMP20_chr11_102571832_102630332	102601125	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01255.hp1 HG03710.hp1 others(7): Show HG01081.hp2 HG01255.hp1 HG03710.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18947.hp2 NA18970.hp2 NA18975.hp1 NA18990.hp2	a0002 a0016 a0002 a0016	a0002c0002 a0016c0012 a0002c0002 a0016c0012	a0002c0002t0001 a0016c0012t0001 a0002c0002t0001 a0016c0012t0001	a0002c0002t0001g0013 a0002c0002t0001g0085 a0002c0002t0001g0087 others(7): Show a0002c0002t0001g0013 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0103 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0124 a0002c0002t0001g0125 a0016c0012t0001g0139	10	227	0.0441	25	c.953 others(42): Show c.953+5385_953+5409dupAAAAAAAAAAAAAAAAAAAAAAAAA	MMP20	ENSG00000137674.4	transcript	ENST00000260228.3	protein_coding	6/9			chr11	TogoVar
MMP20_chr11_102571832_102630332	102629467	C C	CATATTAT others(18): Show CATATTATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0187 a0003c0003t0001g0187	1	411	0.0024	25	c.-41 others(36): Show c.-4149_-4148insATATATATATATATATATATAATAT	MMP20	ENSG00000137674.4	transcript	ENST00000260228.3	protein_coding		4136		chr11	TogoVar
MMP20_chr11_102571832_102630332	102629485	T T	TATATATT others(18): Show TATATATTATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0160 a0004c0004t0001g0160	1	169	0.0059	25	c.-41 others(36): Show c.-4167_-4166insGTATATATATATATATATAATATAT	MMP20	ENSG00000137674.4	transcript	ENST00000260228.3	protein_coding		4154		chr11	TogoVar
MMP26_chr11_4699784_4997429	4907095	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03130.hp1 HG03453.hp1 others(1): Show HG02145.hp2 HG03130.hp1 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0137 a0001c0001t0001g0173 a0001c0001t0001g0204 others(1): Show a0001c0001t0001g0137 a0001c0001t0001g0173 a0001c0001t0001g0204 a0001c0004t0001g0161	4	6	0.6667	25	c.-14 others(46): Show c.-144-80953_-144-80952insAAAAAAAAAAAAAAAAAAAAAAAA A	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP26_chr11_4699784_4997429	4942089	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG06807.hp1 HG01361.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0002g0004 a0001c0001t0001g0019 a0001c0001t0002g0004	2	36	0.0556	25	c.-14 others(46): Show c.-144-45958_-144-45957insAAAAAAAAAAAAAAAAAAAAAAAA A	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP26_chr11_4699784_4997429	4947136	A A	ATACACCT others(18): Show ATACACCTGACCTCAGGTGATCCGCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp2 HG02717.hp2 others(1): Show HG02615.hp2 HG02647.hp2 HG02717.hp2 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0015 a0001c0001t0001g0129 a0001c0001t0001g0141 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0129 a0001c0001t0001g0141 a0002c0002t0001g0152	4	203	0.0197	25	c.-14 others(46): Show c.-144-40931_-144-40930insACACCTGACCTCAGGTGATCCGCT T	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP26_chr11_4699784_4997429	4996721	T T	TTTTCTTT others(18): Show TTTTCTTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	42	0.0238	25	c.44 others(36): Show c.4479_*4480insTTTCTTTTCTTTCTTTCTTTCTTTC	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding		4293		chr11	TogoVar

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