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
MCF2L_chr13_112964214_113104742	113025419	G G	GGGTCCCT others(44): Show GGGTCCCTGCAACTATGGGATGAGGCAGAGTCCCTGTGAGATTTCCCTGT CA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0011 a0001c0004t0005g0012 a0001c0004t0005g0011 a0001c0004t0005g0012	2	111	0.0180	51	c.278 others(66): Show c.278+661_278+662insGGTCCCTGCAACTATGGGATGAGGCAGAGT CCCTGTGAGATTTCCCTGTCA	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29			chr13	TogoVar
MDGA1_chr6_37625679_37702883	37698244	C C	CTCGCTCT others(44): Show CTCGCTCTCTCTCTCGCTCTCTCTCTCTCGCTCTCTCTCTCTCGCTCTCT CT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0053 a0001c0001t0013g0053	1	350	0.0029	51	c.-14 others(62): Show c.-1434_-1433insAGAGAGAGCGAGAGAGAGAGAGCGAGAGAGAGAG AGCGAGAGAGAGAGCGA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		362		chr6	TogoVar
ME1_chr6_83205402_83436051	83237274	A A	AGAAAGAA others(44): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGGA AG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0241	1	130	0.0077	51	c.102 others(68): Show c.1026+442_1026+443insCTTCCTTTCTTTCTTTCTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTC	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	9/13			chr6	TogoVar
MED16_chr19_862963_898187	866668	G G	GCCAGCGC others(44): Show GCCAGCGCTCCCATCTCCTCCCTGTCCGCCCACCGCAGGCCCGCACCCCT CA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG03688.hp1 HG01978.hp2 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0023 a0001c0002t0002g0020 a0001c0002t0001g0023 a0001c0002t0002g0020	2	52	0.0385	51	c.14 others(62): Show c.1432_*1433insTGAGGGGTGCGGGCCTGCGGTGGGCGGACAGGGA GGAGATGGGAGCGCTGG	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding		1294		chr19	TogoVar
MED16_chr19_862963_898187	871834	A A	AGAGGGGA others(44): Show AGAGGGGAGAGCGGGGAGCGGGGAGCGGGGAGAGGGGAGAGCGGGGAGCG GG	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18971.hp2 HG03239.hp1 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0029 a0001c0002t0002g0021 a0001c0002t0001g0029 a0001c0002t0002g0021	2	38	0.0526	51	c.209 others(66): Show c.2098+91_2098+92insCCCGCTCCCCGCTCTCCCCTCTCCCCGCTC CCCGCTCCCCGCTCTCCCCTC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	12/15			chr19	TogoVar
MEGF11_chr15_65890299_66258750	65965601	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0016 a0003c0003t0016	a0003c0003t0016g0154 a0003c0003t0016g0154	1	99	0.0101	51	c.900 others(66): Show c.900-482_900-481insGAAAGAAAGAAAGAAAGAAAAGAAAGAAAG AAGAAAGAAAGAAAGAAAGAA	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	8/25			chr15	TogoVar
METRNL_chr17_83074609_83100122	83090345	C C	CCCCCACA others(44): Show CCCCCACACACACACCCCCCGCCCCACACACACACACCCCGCCCCACACA CA	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18994.hp1 NA18990.hp1 NA18994.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0167 a0001c0003t0002g0270 a0001c0003t0002g0167 a0001c0003t0002g0270	2	373	0.0054	51	c.557 others(68): Show c.557-2821_557-2820insCCCACACACACACCCCCCGCCCCACACA CACACACCCCGCCCCACACACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090408	C C	CCCCCGCC others(44): Show CCCCCGCCCCAGGGTGGGAACCACACACCCCCGCCCCGCCCCAGGGTGGG AG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp2 HG03098.hp2 others(2): Show HG02647.hp1 HG02717.hp2 HG03098.hp2 HG03225.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0156 a0001c0001t0001g0203 a0001c0001t0001g0204 others(2): Show a0001c0001t0001g0156 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0002g0223 a0001c0002t0001g0238	5	395	0.0127	51	c.557 others(68): Show c.557-2757_557-2756insCCGCCCCAGGGTGGGAACCACACACCCC CGCCCCGCCCCAGGGTGGGAGCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090498	A A	ACACACAC others(44): Show ACACACACCCCCCGCCCCACACACCCCCCACCCCCCGCCCCAGGGTGGGA GC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	398	0.0025	51	c.557 others(68): Show c.557-2662_557-2661insCCCCCGCCCCACACACCCCCCACCCCCC GCCCCAGGGTGGGAGCCACACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAM2_chr7_142106718_142227324	142114207	A A	AAGGAAGG others(44): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0014 a0014	a0014c0026 a0014c0026	a0014c0026t0001 a0014c0026t0001	a0014c0026t0001g0327 a0014c0026t0001g0327	1	292	0.0034	51	c.-1+ others(66): Show c.-1+2401_-1+2402insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGA	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM2_chr7_142106718_142227324	142114215	A A	AAGGAAGG others(44): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0024 a0024	a0024c0074 a0024c0074	a0024c0074t0001 a0024c0074t0001	a0024c0074t0001g0031 a0024c0074t0001g0031	1	281	0.0036	51	c.-1+ others(66): Show c.-1+2408_-1+2409insAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGG	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	1/47			chr7	TogoVar
MGAM2_chr7_142106718_142227324	142114223	A A	AAGGAAGG others(44): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0314 a0006c0008t0001g0314	1	272	0.0037	51	c.-1+ others(66): Show c.-1+2417_-1+2418insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGA	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGA_chr15_41655405_41774940	41762461	G G	GTTTTTTT others(44): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0035 a0035	a0035c0036 a0035c0036	a0035c0036t0002 a0035c0036t0002	a0035c0036t0002g0092 a0035c0036t0002g0092	1	51	0.0196	51	c.789 others(68): Show c.7891+129_7891+130insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTT	MGA	ENSG00000174197.19	transcript	ENST00000703841.1	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
MIER2_chr19_300573_349796	302684	A A	ACTCATTA others(44): Show ACTCATTACACCAAAGCACATACTCATCAGACTCAATACACTAAAGCACA GC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00735.hp1 others(23): Show HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01515.hp2 HG01517.hp1 HG01943.hp1 HG01975.hp1 HG03017.hp1 HG03239.hp2 HG03491.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0011 a0001c0001 a0001c0010 a0001c0011	a0001c0001t0001 a0001c0010t0001 a0001c0011t0002 a0001c0001t0001 a0001c0010t0001 a0001c0011t0002	a0001c0001t0001g0025 a0001c0001t0001g0126 a0001c0001t0001g0127 others(21): Show a0001c0001t0001g0025 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0150 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0252 a0001c0001t0001g0262 a0001c0001t0001g0290 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0010t0001g0017 a0001c0011t0002g0267 a0001c0011t0002g0283	26	183	0.1421	51	c.40 others(62): Show c.4005_*4006insGCTGTGCTTTAGTGTATTGAGTCTGATGAGTATG TGCTTTGGTGTAATGAG	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding		2888		chr19	TogoVar
MIGA1_chr1_77774649_77884540	77871125	G G	GGGAGACG others(44): Show GGGAGACGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0261 a0001c0001t0007g0261	1	39	0.0256	51	c.146 others(70): Show c.1468-1878_1468-1877insGAGACGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAG	MIGA1	ENSG00000180488.17	transcript	ENST00000370791.9	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
MINAR1_chr15_79427336_79477304	79439306	G G	GGTGGGTA others(44): Show GGTGGGTAGTGATGAGATGTGGGTGGGGTAGGCAGTGTGTGTGTGGGTGT GT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp2 NA18906.hp1 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0028 a0001c0002 a0004c0028	a0001c0002t0021 a0004c0028t0015 a0001c0002t0021 a0004c0028t0015	a0001c0002t0021g0056 a0004c0028t0015g0055 a0001c0002t0021g0056 a0004c0028t0015g0055	2	384	0.0052	51	c.-51 others(68): Show c.-51+6813_-51+6814insGTGTGTGGGTAGTGATGAGATGTGGGTG GGGTAGGCAGTGTGTGTGTGGGT	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MIX23_chr3_122354591_122388231	122382073	T T	TAAAATGG others(44): Show TAAAATGGGATTCTAGGAATCTAATAAAAATTCTTGAATGCAATGCTAAA AA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	418	0.0024	51	c.51+ others(66): Show c.51+1100_51+1101insTTTTTAGCATTGCATTCAAGAATTTTTATT AGATTCCTAGAATCCCATTTT	MIX23	ENSG00000160124.9	transcript	ENST00000291458.9	protein_coding	1/4			chr3	TogoVar
MLPH_chr2_237482251_237560322	237543178	T T	TGGGGACA others(44): Show TGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAG TG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0094 a0003c0003t0001g0094	1	220	0.0045	51	c.153 others(68): Show c.1539+523_1539+524insACAGTGGTGAGTGGGGGGACAGTGGTGA GTGGGCACGGTAGTGAGTGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543265	T T	TGGGGACA others(44): Show TGGGGACATTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACAGTAGTGAG TA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp1 HG06807.hp1 HG02559.hp1 HG02809.hp1 HG06807.hp1	a0004 a0008 a0004 a0008	a0004c0005 a0008c0011 a0004c0005 a0008c0011	a0004c0005t0001 a0008c0011t0015 a0004c0005t0001 a0008c0011t0015	a0004c0005t0001g0133 a0004c0005t0001g0140 a0008c0011t0015g0251 a0004c0005t0001g0133 a0004c0005t0001g0140 a0008c0011t0015g0251	3	174	0.0172	51	c.153 others(68): Show c.1539+610_1539+611insACATTGGTGAGTGGGGGGACAGTGGTGA GTGGGCACAGTAGTGAGTAGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543300	G G	GGGCACGG others(44): Show GGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGGCACAGTGGTGA GT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	267	0.0037	51	c.153 others(68): Show c.1539+643_1539+644insCACGGTAGTGAGTGGGGGGACAGTGGTG AGTGGGGGCACAGTGGTGAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543543	T T	TGGGCACG others(44): Show TGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAATGGGGACAGTGGTGAG TG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp2 HG02970.hp1 others(1): Show HG02723.hp2 HG02896.hp2 HG02970.hp1 HG03486.hp1	a0002 a0003 a0002 a0003	a0002c0008 a0003c0003 a0002c0008 a0003c0003	a0002c0008t0002 a0002c0008t0003 a0003c0003t0002 a0002c0008t0002 a0002c0008t0003 a0003c0003t0002	a0002c0008t0002g0096 a0002c0008t0003g0027 a0003c0003t0002g0113 others(1): Show a0002c0008t0002g0096 a0002c0008t0003g0027 a0003c0003t0002g0113 a0003c0003t0002g0254	4	174	0.0230	51	c.153 others(68): Show c.1539+887_1539+888insCACGGTAGTGAGTGGGGGGACAGTGGTG AATGGGGACAGTGGTGAGTGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543596	G G	GGGACAGT others(44): Show GGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACGGTGGTGAGTG GA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0135 a0002c0002t0001g0135	1	225	0.0044	51	c.153 others(68): Show c.1539+938_1539+939insGACAGTGGTGAGTGGGGGGACAGTGGCA AGTGGGCACGGTGGTGAGTGGAG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543613	G G	GGGGACAG others(44): Show GGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTTGGGGGACAGTGGTGA GT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0086 a0002c0002t0002g0086	1	263	0.0038	51	c.153 others(68): Show c.1539+957_1539+958insACAGTGGTGAGTTGGGGGACAGTGGTGA GTTGGGGGACAGTGGTGAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543663	G G	GGGGACAG others(44): Show GGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGGGAACAGTGGTGA GT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0043 a0002c0002t0002g0043	1	278	0.0036	51	c.153 others(70): Show c.1539+1007_1539+1008insACAGTGGTGAGTTGGGGGACAGTGGT GAGTGGGGGAACAGTGGTGAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543664	G G	GAGGGGAC others(44): Show GAGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGGACAGTGGTGA GT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0247 a0002c0002t0001g0247	1	267	0.0037	51	c.153 others(70): Show c.1539+1005_1539+1006insAGGGGACAGTGGTGAGTGGGGGGACA GTGGCAAGTGGGGACAGTGGTGAGT	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLPH_chr2_237482251_237560322	237543776	G G	GTGGCAAG others(44): Show GTGGCAAGTGGGCACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGAC AT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0280 a0004c0005t0002g0280	1	284	0.0035	51	c.153 others(70): Show c.1539+1120_1539+1121insCAAGTGGGCACAGTGGTGAGTGGAGG GGACAGTGGTGAGTGGGGACATTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543821	G G	GGACAGTG others(44): Show GGACAGTGGCAAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTG GA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0081 a0002c0002t0003g0081	1	280	0.0036	51	c.153 others(70): Show c.1539+1163_1539+1164insACAGTGGCAAGTGGGCACGGTGGTGA GTGGAGGGGACAGTGGTGAGTGGAG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543892	G G	GGGACAGT others(44): Show GGGACAGTGGTGAGGGGACAGTAGTGAGTAGGGGACAGTGGTGAGTTGGG GC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0015 a0008c0011t0015	a0008c0011t0015g0251 a0008c0011t0015g0251	1	251	0.0040	51	c.153 others(70): Show c.1539+1233_1539+1234insGGACAGTGGTGAGGGGACAGTAGTGA GTAGGGGACAGTGGTGAGTTGGGGC	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLPH_chr2_237482251_237560322	237544525	G G	GGGACAGT others(44): Show GGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGA GT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0017 a0005c0004t0001g0017	1	251	0.0040	51	c.153 others(70): Show c.1539+1868_1539+1869insACAGTGGTGAGTGGGGGGACAGTGGT GAGTGGAGGGGACAGTGGTGAGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544867	G G	GGTGAGTG others(44): Show GGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGTA CA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0276 a0001c0015t0001g0276	1	202	0.0050	51	c.154 others(70): Show c.1540-1729_1540-1728insGGACAGTGGTGAGTGGGGGGACAGTG GTGAGTGGGGGTACAGTGAGTGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237545052	G G	GGTGAGTT others(44): Show GGTGAGTTGGGGGACAGTGGTGAATGGGCACGGTAGTGAGTGGGGGGACA GT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02818.hp1 NA19240.hp1 HG02572.hp1 HG02818.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0018 a0002c0002t0002 a0002c0002t0018	a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0018g0100 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0018g0100	3	280	0.0107	51	c.154 others(70): Show c.1540-1553_1540-1552insTGAGTTGGGGGACAGTGGTGAATGGG CACGGTAGTGAGTGGGGGGACAGTG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLXIPL_chr7_73588202_73629522	73589194	T T	TATAAATA others(44): Show TATAAATATAAAATACATTTATATTTATTAATATAAAAATAAAATATATT TA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02273.hp1 HG02148.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0138 a0001c0001t0001g0139	2	274	0.0073	51	c.46 others(62): Show c.4670_*4671insTAAATATATTTTATTTTTATATTAATAAATATAA ATGTATTTTATATTTAT	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding		4007		chr7	TogoVar
MMD2_chr7_4900998_4964187	4945185	T T	TTTCTTCT others(44): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0290 a0001c0001t0005g0312 a0001c0001t0005g0290 a0001c0001t0005g0312	2	18	0.1111	51	c.47+ others(68): Show c.47+13735_47+13785dupGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6			chr7	TogoVar
MMD2_chr7_4900998_4964187	4945185	T T	TTTCTTCT others(44): Show TTTCTTCTTCTTCTTCTTCTTCTTTTTCTTCTTCTTCTTCTTCTTCTTCT TC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0269 a0001c0002t0001g0269	1	17	0.0588	51	c.47+ others(68): Show c.47+13785_47+13786insGAAGAAGAAGAAGAAGAAGAAGAAGAAA AAGAAGAAGAAGAAGAAGAAGAA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6			chr7	TogoVar
MMS22L_chr6_97137161_97288216	97225586	C C	CTTTTTTT others(44): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0113 a0001c0001t0038g0113	1	289	0.0035	51	c.203 others(70): Show c.2039+3307_2039+3308insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAA	MMS22L	ENSG00000146263.12	transcript	ENST00000683635.1	protein_coding	14/24			chr6	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	168	0.0060	51	c.226 others(68): Show c.226-3489_226-3488insATATATATATATATATATATATATATAT ATATATATTTTTTTTTTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MON1A_chr3_49903873_49934811	49911209	G G	GATAGATA others(44): Show GATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATGATAGAT AC	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA19082.hp2 HG00140.hp1 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0149 a0001c0002t0001g0139 a0001c0002t0001g0149	2	230	0.0087	51	c.613 others(66): Show c.613+316_613+317insGTATCTATCATCTATCTATCTATCTATCTA TCTATCTATCTATCTATCTAT	MON1A	ENSG00000164077.15	transcript	ENST00000296473.8	protein_coding	3/5			chr3	TogoVar
MON2_chr12_62461826_62605476	62534542	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATTTTATATATATATATATATATA TT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0303 a0001c0002t0002g0303	1	177	0.0056	51	c.163 others(68): Show c.1634-303_1634-302insTATATATATATATATATATATATATATT TTATATATATATATATATATATT	MON2	ENSG00000061987.16	transcript	ENST00000393630.8	protein_coding	12/34			chr12	TogoVar
MON2_chr12_62461826_62605476	62534549	A A	ATATATAT others(44): Show ATATATATATATTTTATATATATATATATATATTTTATATATATATATAT TT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0074 a0001c0003t0005g0074	1	349	0.0029	51	c.163 others(68): Show c.1634-285_1634-284insTTTATATATATATATATATATTTTATAT ATATATATATTTTATATATATAT	MON2	ENSG00000061987.16	transcript	ENST00000393630.8	protein_coding	12/34		INFO_REALIGN_3_PRIME	chr12	TogoVar
MON2_chr12_62461826_62605476	62534549	A A	ATATATAT others(44): Show ATATATATATTTTATATATATATATATATATTTTATATATATATATATAT TT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0080 a0001c0003t0005g0080	1	349	0.0029	51	c.163 others(68): Show c.1634-287_1634-286insTTTATATATATATATATATATTTTATAT ATATATATATATTTTATATATAT	MON2	ENSG00000061987.16	transcript	ENST00000393630.8	protein_coding	12/34		INFO_REALIGN_3_PRIME	chr12	TogoVar
MON2_chr12_62461826_62605476	62534551	A A	ATATATAT others(44): Show ATATATATATTTTATATATATATATATATATTTTATATATATATATATAT TT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01496.hp1 NA18971.hp2 others(2): Show HG01192.hp2 HG01496.hp1 NA18971.hp2 NA18988.hp2 NA19010.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0056 a0001c0003t0002g0072 a0001c0003t0002g0082 others(2): Show a0001c0003t0002g0056 a0001c0003t0002g0072 a0001c0003t0002g0082 a0001c0003t0002g0084 a0001c0003t0002g0095	5	356	0.0140	51	c.163 others(68): Show c.1634-285_1634-284insTTTATATATATATATATATATTTTATAT ATATATATATATTTTATATATAT	MON2	ENSG00000061987.16	transcript	ENST00000393630.8	protein_coding	12/34		INFO_REALIGN_3_PRIME	chr12	TogoVar
MORN1_chr1_2316253_2396554	2331983	C C	CCTGCGCC others(44): Show CCTGCGCCTCTCCCGCCGCTGCGCCTCTCCCGCCGCTGCGCCTCTCCCGC CG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	51	0.0196	51	c.125 others(70): Show c.1250+4485_1250+4486insCGGCGGGAGAGGCGCAGCGGCGGGAG AGGCGCAGCGGCGGGAGAGGCGCAG	MORN1	ENSG00000116151.14	transcript	ENST00000378531.8	protein_coding	12/13			chr1	TogoVar
MPI_chr15_74885042_74907219	74894107	T T	TGTGTGTG others(44): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCTGAGCC AG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0003 a0001c0002t0004g0003	1	206	0.0049	51	c.670 others(66): Show c.670+788_670+789insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTTTCTGAGCCAGG	MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
MPPED1_chr22_43407014_43512848	43432589	G G	GGGAGGAG others(44): Show GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAG AA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0242 a0001c0003t0002g0242	1	237	0.0042	51	c.225 others(68): Show c.225-2445_225-2444insGGAGGAGAGAGAGAGAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432756	A A	AGAGAGAT others(44): Show AGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGATAAAGGG AG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	166	0.0060	51	c.225 others(68): Show c.225-2277_225-2276insAGAGATAAAGGGAGGAGAGAGAGATAAA GGGAGGAGAGAGATAAAGGGAGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432775	A A	AGAGAGAG others(44): Show AGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGG AG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0110 a0001c0002t0004g0110	1	237	0.0042	51	c.225 others(68): Show c.225-2215_225-2214insAAGGGAGGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43495763	G G	GGTGGAGG others(44): Show GGTGGAGGTGGTGGTGGAGGTAGTGGTGGTGGAGGTAGTGGTGGTGGAGG TA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0058	1	114	0.0088	51	c.633 others(68): Show c.633-2468_633-2467insAGGTGGTGGTGGAGGTAGTGGTGGTGGA GGTAGTGGTGGTGGAGGTAGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43495857	G G	GTGGAGAT others(44): Show GTGGAGATGGTGGTGGTGGAGGTGGTGGTGGTGGAGATGGTGGTGGTGGA GA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19000.hp2 NA19011.hp1 others(1): Show NA18942.hp1 NA19000.hp2 NA19011.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0144 a0001c0001t0001g0156 others(1): Show a0001c0001t0001g0124 a0001c0001t0001g0144 a0001c0001t0001g0156 a0001c0001t0001g0173	4	246	0.0163	51	c.633 others(68): Show c.633-2375_633-2374insAGATGGTGGTGGTGGAGGTGGTGGTGGT GGAGATGGTGGTGGTGGAGATGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496121	G G	GTGGTGGT others(44): Show GTGGTGGTGGAGGTGGTGGTGGAGCTGGTGGTGGAGGTGGTGGTGGTGGA GA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00673.hp2 others(35): Show HG00099.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01981.hp2 HG02083.hp1 HG02602.hp1 HG02683.hp1 HG02735.hp1 HG02738.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03834.hp2 HG04204.hp1 HG06807.hp2 NA18942.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18981.hp2 NA18984.hp1 NA18999.hp2 NA19004.hp2 NA19009.hp2 NA19011.hp1 NA19064.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 others(8): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0013 a0001c0003t0003 a0001c0005t0001 a0001c0005t0004	a0001c0001t0001g0043 a0001c0001t0001g0114 a0001c0001t0001g0115 others(35): Show a0001c0001t0001g0043 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0173 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0007g0123 a0001c0001t0013g0116 a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0046 a0001c0002t0001g0075 a0001c0002t0001g0085 a0001c0002t0001g0093 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0165 a0001c0002t0003g0061 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0080 a0001c0002t0004g0044 a0001c0002t0006g0245 a0001c0002t0013g0074 a0001c0003t0003g0167 a0001c0005t0001g0081 a0001c0005t0004g0015	38	229	0.1659	51	c.633 others(68): Show c.633-2105_633-2104insAGGTGGTGGTGGAGCTGGTGGTGGAGGT GGTGGTGGTGGAGATGGTGGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43499704	A A	ATGATGGT others(44): Show ATGATGGTGGTGGTGATGGAGGTGGTGATGGTGGTGGTGATGGAGGTGGT GG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01069.hp2 HG01074.hp1 others(13): Show HG00673.hp1 HG01069.hp2 HG01074.hp1 HG01515.hp1 HG01517.hp2 HG01981.hp1 HG02109.hp2 HG02258.hp1 HG02486.hp2 HG02602.hp1 HG02647.hp2 HG02809.hp1 HG03453.hp1 NA18906.hp1 NA19005.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0028 a0001c0003t0010 a0001c0003t0011	a0001c0001t0001g0118 a0001c0001t0001g0139 a0001c0001t0001g0144 others(13): Show a0001c0001t0001g0118 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0002t0001g0091 a0001c0002t0001g0150 a0001c0002t0002g0088 a0001c0002t0002g0109 a0001c0002t0003g0183 a0001c0002t0028g0089 a0001c0003t0010g0161 a0001c0003t0011g0198	16	193	0.0829	51	c.748 others(68): Show c.748+1384_748+1385insTGGTGGTGATGGAGGTGGTGGTGATGGT GGTGGTGATGGAGGTGGTGATGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar

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