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
MAN1A2_chr1_117362449_117533872	117429525	C C	CGGGGGGG others(95): Show CGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGGCCGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGG GCA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	225	0.0044	102	c.855 others(119): Show c.855+8882_855+8883insGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCAGAC GGGGCGGCTGGCCGGGCAGGGGGG	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117429537	C C	CCCCCCAC others(95): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGAC CCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGGGGGGCCG ACA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0222 a0001c0001t0014g0222	1	123	0.0081	102	c.855 others(119): Show c.855+8931_855+8932insGCCGACCCCCCCCCACCTCCCTCCCAGA CGGGGCGGCTGGCCGGGCAGGGGGGCCGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGG	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117429537	C C	CCCCCCCA others(95): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC CCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGGGGGGCCG ACA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	123	0.0081	102	c.855 others(119): Show c.855+8893_855+8894insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGG CCGGGCAGGGGGGCCGACACCCCC	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN2B2_chr4_6570189_6628362	6579310	C C	CCACCACC others(95): Show CCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAC CAT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0039 a0039	a0039c0062 a0039c0062	a0039c0062t0001 a0039c0062t0001	a0039c0062t0001g0104 a0039c0062t0001g0104	1	318	0.0031	102	c.391 others(117): Show c.391+835_391+836insTCACCACCACCATCACCATCACCACCACCA TCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCATC ACCACCATCACCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579325	C C	CCACCACC others(95): Show CCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACC ACCATCACCATCACCACCACCACCATCACCACCATCACCACCACCACCAC CAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	255	0.0039	102	c.391 others(117): Show c.391+844_391+845insCCATCACCACCATCACCACCACCACCACCA CCACCATCACCATCACCACCACCACCATCACCACCATCACCACCACCACC ACCATCACCACCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP2_chr2_209419047_209739112	209436015	T T	TTATATAT others(95): Show TTATATATAATATATACAGTATATATTATATATAATATATACAGTACATA TTATATATAATATATACAGTATATATTATATATAATATATACAGTACATA TTA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0008 a0002c0005t0008	a0002c0005t0008g0135 a0002c0005t0008g0135	1	100	0.0100	102	c.-22 others(123): Show c.-222+11748_-222+11749insTATATACAGTATATATTATATATA ATATATACAGTACATATTATATATAATATATACAGTATATATTATATATA ATATATACAGTACATATTATATATATAA	MAP2	ENSG00000078018.22	transcript	ENST00000682079.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K13_chr3_185358136_185494094	185453828	T T	TATATATG others(95): Show TATATATGTGATACATATATATGAGATATATATGTGATACATATATATGA GATATATATGTGATACATATATATGAGATATATATGTGATACATATATAT GAG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03942.hp1 HG04184.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001	a0001c0001t0002g0193 a0001c0001t0004g0064 a0001c0002t0001g0134 a0001c0001t0002g0193 a0001c0001t0004g0064 a0001c0002t0001g0134	3	211	0.0142	102	c.127 others(121): Show c.1278+2439_1278+2440insGTGATACATATATATGAGATATATAT GTGATACATATATATGAGATATATATGTGATACATATATATGAGATATAT ATGTGATACATATATATGAGATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185453856	T T	TATATATG others(95): Show TATATATGTGATACATATATATGAGATATATATGTGATACATATATATGA GATATATATGTGATACATATATATGAGATATATATGTGATACATATATAT GAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0003 a0008c0010t0003	a0008c0010t0003g0260 a0008c0010t0003g0260	1	274	0.0036	102	c.127 others(121): Show c.1278+2467_1278+2468insGTGATACATATATATGAGATATATAT GTGATACATATATATGAGATATATATGTGATACATATATATGAGATATAT ATGTGATACATATATATGAGATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185453934	G G	GATATATA others(95): Show GATATATATGATACATATATATGAGATATATATGTGATACATATATATGA GATATATATGATACATATATATGAGATATATATATGATACATATATATGA GAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	159	0.0063	102	c.127 others(121): Show c.1278+2572_1278+2573insTGATACATATATATGAGATATATATG ATACATATATATGAGATATATATATGATACATATATATGAGATATATATA TGATACATATATATGAGATATATATG	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185453934	G G	GATATATA others(95): Show GATATATATGTGATACATATATATGAGATATATATGTGATACATATATAT GAGATATATATGATACATATATATGAGATATATATGATACATATATATGA GAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0118 a0001c0001t0033g0118	1	159	0.0063	102	c.127 others(121): Show c.1278+2548_1278+2549insTGATACATATATATGAGATATATATG TGATACATATATATGAGATATATATGATACATATATATGAGATATATATG ATACATATATATGAGATATATATATG	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP4K1_chr19_38582641_38622953	38584521	T T	TAGCCCTG others(95): Show TAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCT GCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCAT CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	346	0.0029	102	c.31 others(113): Show c.3125_*3226dupGGGATGGGGGGCACTGGCAGGGGAATCAGGGCCA GGATAAGGGGGGCACAGGCAGAGGGGTCAGGGCCAGGATAGGGGGGCACA GGGAGAGGGGTCAGGGCT	MAP4K1	ENSG00000104814.13	transcript	ENST00000396857.7	protein_coding		3119		chr19	TogoVar
MAP4K4_chr2_101692707_101899690	101759670	C C	CCCCCTCC others(95): Show CCCCCTCCCCATTCCCCTACCACTCCGCTCCCCATTCCCCTCCACCTCCC CTCCCCTCCCCATTCCCCTCCACCTCCCCTCCCCATTCCCCTCCCCCTCC TTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0195 a0001c0001t0046g0195	1	31	0.0323	102	c.124 others(121): Show c.124-31033_124-31032insACCACTCCGCTCCCCATTCCCCTCCA CCTCCCCTCCCCTCCCCATTCCCCTCCACCTCCCCTCCCCATTCCCCTCC CCCTCCTTTCCCCTCCCCATTCCCCT	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP4K4_chr2_101692707_101899690	101759670	C C	CCCCCTCC others(95): Show CCCCCTCCCCATTCCCCTCCCACTCCGCTCCCCATTCCCCTCCACCTCCC CTCCCCTCCCCATTCCCCTCCACCTCCCCTCCCCATTCCCCTCCCCCTCC TTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(130): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp2 HG01168.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01891.hp2 HG01934.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18971.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18999.hp1 NA19009.hp2 NA19063.hp2 NA19065.hp2 NA19079.hp2 NA19080.hp1 NA19084.hp2 NA19087.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0040 a0001c0001t0044 a0001c0001t0045 a0001c0001t0051 a0001c0001t0052 a0001c0002t0005 a0001c0002t0027 a0001c0002t0037 a0001c0004t0001 a0001c0004t0004 a0001c0005t0002 a0002c0006t0014	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(130): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0233 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0004g0058 a0001c0001t0004g0144 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0168 a0001c0001t0004g0171 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0007g0009 a0001c0001t0012g0037 a0001c0001t0012g0066 a0001c0001t0012g0067 a0001c0001t0015g0082 a0001c0001t0015g0226 a0001c0001t0015g0250 a0001c0001t0015g0262 a0001c0001t0016g0162 a0001c0001t0016g0163 a0001c0001t0016g0170 a0001c0001t0016g0172 a0001c0001t0018g0007 a0001c0001t0018g0045 a0001c0001t0018g0057 a0001c0001t0018g0070 a0001c0001t0020g0206 a0001c0001t0020g0236 a0001c0001t0020g0247 a0001c0001t0020g0256 a0001c0001t0021g0198 a0001c0001t0024g0234 a0001c0001t0024g0235 a0001c0001t0024g0261 a0001c0001t0029g0260 a0001c0001t0030g0245 a0001c0001t0030g0249 a0001c0001t0031g0081 a0001c0001t0031g0244 a0001c0001t0040g0164 a0001c0001t0044g0034 a0001c0001t0045g0065 a0001c0001t0051g0251 a0001c0001t0052g0240 a0001c0002t0005g0196 a0001c0002t0005g0214 a0001c0002t0005g0218 a0001c0002t0005g0219 a0001c0002t0005g0221 a0001c0002t0005g0222 a0001c0002t0005g0223 a0001c0002t0005g0224 a0001c0002t0027g0220 a0001c0002t0037g0167 a0001c0004t0001g0029 a0001c0004t0004g0030 a0001c0005t0002g0258 a0002c0006t0014g0169	133	163	0.8160	102	c.124 others(121): Show c.124-31030_124-31029insACTCCGCTCCCCATTCCCCTCCACCT CCCCTCCCCTCCCCATTCCCCTCCACCTCCCCTCCCCATTCCCCTCCCCC TCCTTTCCCCTCCCCATTCCCCTCCC	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP4K4_chr2_101692707_101899690	101759670	C C	CCCCCTCC others(95): Show CCCCCTCCCCATTCCCCTCCCACTCCGCTCCCCATTCCCCTCCACCTCCC CTCCCCTCCCCATTCCCCTCCCCCTCCCCTCCCCATTCCCCTCCCCCTCC TTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	31	0.0323	102	c.124 others(121): Show c.124-31030_124-31029insACTCCGCTCCCCATTCCCCTCCACCT CCCCTCCCCTCCCCATTCCCCTCCCCCTCCCCTCCCCATTCCCCTCCCCC TCCTTTCCCCTCCCCATTCCCCTCCC	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP4K4_chr2_101692707_101899690	101759671	C C	CCCCTCCC others(95): Show CCCCTCCCCATTCCCCTCCCACTCCCGCTCCCCATTCCCCTCCACCTCCC CTCCCCTCCCCATTCCCCTCCACCTCCCCTCCCCATTCCCCTCCCCCTCC TTT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	308	0.0032	102	c.124 others(121): Show c.124-31030_124-31029insACTCCCGCTCCCCATTCCCCTCCACC TCCCCTCCCCTCCCCATTCCCCTCCACCTCCCCTCCCCATTCCCCTCCCC CTCCTTTCCCTCCCCATTCCCCTCCC	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MARCHF4_chr2_216252865_216377483	216300344	A A	ATATACAC others(95): Show ATATACACATATATATACGTATATATATGTGTATATATATATACGTATAT ATATGTATATACATATATATATACGTATATATGTATATACGTATATATAT ACG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG02258.hp1 others(2): Show HG01109.hp1 HG02145.hp2 HG02258.hp1 HG02647.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 others(2): Show a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0006g0166 a0001c0001t0006g0264	5	304	0.0164	102	c.517 others(121): Show c.517-16616_517-16615insCGTATATATATACGTATATACATATA TACGTATATATATATGTATATACATATATATACGTATATATATATACACA TATATATACGTATATATATGTGTATA	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3			chr2	TogoVar
MAS1_chr6_159885988_159922447	159898616	T T	TCCTCCTC others(95): Show TCCTCCTCCTCCCTCTTCCTCCTCTCTTCCTCCTCCTCCCTCCTCCTGCC TTCTTCCTCCTCCCTCTTCCTCCTCCTCTTCCTCCTCCTCCCTCTTCCTC CTC	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	3	0.3333	102	c.-24 others(119): Show c.-243-553_-243-552insCTCCTCTCTTCCTCCTCCTCCCTCCTCC TGCCTTCTTCCTCCTCCCTCTTCCTCCTCCTCTTCCTCCTCCTCCCTCTT CCTCCTCCCTCCTCCTCCCTCTTC	MAS1	ENSG00000130368.7	transcript	ENST00000674077.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
MAS1_chr6_159885988_159922447	159898616	T T	TCCTCCTC others(95): Show TCCTCCTCCTCCCTCTTCCTCCTCTCTTCCTCCTCCTCCCTCCTCCTGCT TCTTCCTCCTCCCTCTTCCTCCTCCCTCTTCCTCCTCCTCCCTCTTCCTC CTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(183): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18944.hp1 NA18946.hp1 NA18955.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18985.hp2 NA18988.hp1 NA18993.hp1 NA18994.hp2 NA19002.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19064.hp2 NA19070.hp2 NA19072.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(50): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0002t0001 a0001c0002t0007 a0001c0002t0008 a0001c0002t0071 a0001c0002t0075 a0001c0002t0078 a0001c0002t0079	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 others(113): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0019 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0062 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0004g0010 a0001c0001t0004g0019 a0001c0001t0004g0029 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0075 a0001c0001t0004g0155 a0001c0001t0005g0009 a0001c0001t0005g0061 a0001c0001t0006g0004 a0001c0001t0006g0055 a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0009g0007 a0001c0001t0009g0095 a0001c0001t0010g0002 a0001c0001t0010g0021 a0001c0001t0010g0040 a0001c0001t0010g0083 a0001c0001t0011g0012 a0001c0001t0011g0028 a0001c0001t0011g0151 a0001c0001t0012g0023 a0001c0001t0012g0072 a0001c0001t0012g0105 a0001c0001t0012g0152 a0001c0001t0013g0016 a0001c0001t0013g0098 a0001c0001t0013g0103 a0001c0001t0013g0104 a0001c0001t0014g0032 a0001c0001t0014g0063 a0001c0001t0014g0088 a0001c0001t0014g0090 a0001c0001t0016g0022 a0001c0001t0016g0056 a0001c0001t0016g0100 a0001c0001t0016g0101 a0001c0001t0016g0148 a0001c0001t0017g0013 a0001c0001t0017g0068 a0001c0001t0020g0009 a0001c0001t0024g0028 a0001c0001t0024g0052 a0001c0001t0024g0150 a0001c0001t0025g0022 a0001c0001t0026g0007 a0001c0001t0027g0019 a0001c0001t0027g0064 a0001c0001t0028g0003 a0001c0001t0029g0007 a0001c0001t0030g0020 a0001c0001t0031g0020 a0001c0001t0037g0048 a0001c0001t0038g0039 a0001c0001t0040g0092 a0001c0001t0041g0035 a0001c0001t0042g0035 a0001c0001t0043g0156 a0001c0001t0044g0013 a0001c0001t0045g0004 a0001c0001t0046g0003 a0001c0001t0047g0077 a0001c0001t0048g0066 a0001c0001t0049g0003 a0001c0001t0050g0007 a0001c0001t0051g0002 a0001c0001t0053g0076 a0001c0001t0054g0004 a0001c0001t0055g0002 a0001c0001t0056g0067 a0001c0001t0058g0096 a0001c0001t0085g0102 a0001c0001t0086g0089 a0001c0001t0087g0058 a0001c0001t0088g0012 a0001c0001t0089g0016 a0001c0001t0090g0065 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0038 a0001c0002t0001g0144 a0001c0002t0007g0014 a0001c0002t0007g0034 a0001c0002t0007g0059 a0001c0002t0008g0015 a0001c0002t0008g0134 a0001c0002t0008g0149 a0001c0002t0071g0038 a0001c0002t0075g0099 a0001c0002t0078g0054 a0001c0002t0079g0014	186	188	0.9894	102	c.-24 others(119): Show c.-243-553_-243-552insCTCCTCTCTTCCTCCTCCTCCCTCCTCC TGCTTCTTCCTCCTCCCTCTTCCTCCTCCCTCTTCCTCCTCCTCCCTCTT CCTCCTCCCTCCTCCTCCCTCTTC	MAS1	ENSG00000130368.7	transcript	ENST00000674077.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20111804	T T	TCATATAG others(95): Show TCATATAGATACATATATATACATATATATACATATATATACATATATAT ACATATATATATACATATATATACATATATATACATATATATACATATAT ATA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	247	0.0040	102	c.120 others(121): Show c.1209+1071_1209+1072insTATATATATGTATATATATGTATATA TATGTATATATATGTATATATATATGTATATATATGTATATATATGTATA TATATGTATATATATGTATCTATATG	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	11/12			chr6	TogoVar
MBP_chr18_76973833_77137783	76975154	C C	CCTTTTCT others(95): Show CCTTTTCTTTTCTTTTCTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	257	0.0039	102	c.52 others(113): Show c.5272_*5273insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAGAAAAGAAAAGAAAAG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3678		chr18	TogoVar
MED16_chr19_862963_898187	866551	A A	AGGCCCGC others(95): Show AGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCGCCG CGGGCCCGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCC GCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	53	0.0189	102	c.15 others(113): Show c.1549_*1550insCGCGGCGGGTGGACGGGGAGGACATGGGAGCGCT GGCGAGGGGTGCGGGCCCGCGGCGGGTGGACGGAGAGGAGATGGGAGCGC TGGCGAGGGGTGCGGGCC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding		1411		chr19	TogoVar
MED16_chr19_862963_898187	866658	T T	TGCACCCC others(95): Show TGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCAGGC CCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCATCGCGGG CCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	22	0.0455	102	c.14 others(113): Show c.1442_*1443insGGGCCCGCGATGGGTGGACGGAGAGGAGATGGGA GCGCTGGCGAGGGGTGCGGGCCTGCGGCGGGTGGACGGGGAGGACATGGG AGCGCTGGCGAGGGGTGC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding		1304		chr19	TogoVar
MED16_chr19_862963_898187	866899	A A	ACCCACTG others(95): Show ACCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTC CACCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGT CCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0020 a0001c0002t0002g0020	1	37	0.0270	102	c.12 others(113): Show c.1201_*1202insCGGACGGAGAGGAGATGGGAGCGCTGGCGAGGGG TGCGGGCCCGCAGTGGGTGGACGGAGAGGAGATGGGAGCGCTGGCGAGGG GTGCGGGCCCGCAGTGGG	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding		1063		chr19	TogoVar
MEGF11_chr15_65890299_66258750	66039746	T T	TCTGAGCC others(95): Show TCTGAGCCGGGTCAGGCGGCGGTGGGGTGACGGTCCTGAGCCGGGTCAGG CGGCGGTGGGGTGACGGTCCTGAGCCGGGTCAGGCGGCGGTGGGGTGACG GTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03540.hp1 HG02258.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0085 a0001c0001t0005g0136 a0001c0001t0001g0085 a0001c0001t0005g0136	2	14	0.1429	102	c.394 others(121): Show c.394+54554_394+54655dupGACCGTCACCCCACCGCCGCCTGACC CGGCTCAGGACCGTCACCCCACCGCCGCCTGACCCGGCTCAGGACCGTCA CCCCACCGCCGCCTGACCCGGCTCAG	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	5/25			chr15	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(95): Show ACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC GCG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0035 a0035	a0035c0065 a0035c0065	a0035c0065t0043 a0035c0065t0043	a0035c0065t0043g0093 a0035c0065t0043g0093	1	83	0.0120	102	c.377 others(119): Show c.377-3834_377-3833insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEP1A_chr6_46788389_46844778	46794032	A A	AAGAAACA others(95): Show AAGAAACATATAAGAATAGCCTCTGTTAAATTTATTCAAAACCCTATCCC ACTCCCAAACACTATCATATTAATATCTCGACTGAAACAAAGAAAATATC CGT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	350	0.0029	102	c.145 others(117): Show c.145+317_145+318insGAAACATATAAGAATAGCCTCTGTTAAATT TATTCAAAACCCTATCCCACTCCCAAACACTATCATATTAATATCTCGAC TGAAACAAAGAAAATATCCGTA	MEP1A	ENSG00000112818.11	transcript	ENST00000230588.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
METRNL_chr17_83074609_83100122	83090262	C C	CCACACAC others(95): Show CCACACACCCCCGCCCCGCCCCAGGGTGGGAGCCACACACACACCCCCGC CCTGCCCCAGGGTGGGAGCCACACACCCCCGCCCCGCCCCAGGGTGGGAG CCA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18984.hp1 HG02129.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0363 a0001c0001t0001g0016 a0001c0001t0001g0363	2	257	0.0078	102	c.557 others(119): Show c.557-2898_557-2897insCCCCGCCCCGCCCCAGGGTGGGAGCCAC ACACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACCCCCGCCCCG CCCCAGGGTGGGAGCCACACACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METRNL_chr17_83074609_83100122	83090264	A A	ACACCCCC others(95): Show ACACCCCCCCCGCCCCGCCCCAGGGTGGGAACCACACACCCCCGCCCTGC CCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCCAGGGTGGG AAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	376	0.0027	102	c.557 others(119): Show c.557-2900_557-2899insCCCCCCCGCCCCGCCCCAGGGTGGGAAC CACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCAC CCCCCGCCCCAGGGTGGGAACCAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METTL26_chr16_629430_641305	635397	T T	TGAGGCTG others(95): Show TGAGGCTGGAGACCCTCACCCCGACTGTGATGGGGGAGGCTGGAAACCCT CACCCCGACTGTGATGGGGGAGGCTGGAGACCCTCACCCCGACTGTGATG GGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA20129.hp1 HG02258.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	2	65	0.0308	102	c.361 others(115): Show c.361-58_361-57insCCCCATCACAGTCGGGGTGAGGGTCTCCAGCC TCCCCCATCACAGTCGGGGTGAGGGTTTCCAGCCTCCCCCATCACAGTCG GGGTGAGGGTCTCCAGCCTC	METTL26	ENSG00000130731.16	transcript	ENST00000301686.13	protein_coding	2/5			chr16	TogoVar
MET_chr7_116667196_116803377	116726141	A A	ATATATAT others(95): Show ATATATATATATATATATATATATATATATATACACACACACACTATATA TACACACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGT GTG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0155 a0001c0005t0006g0155	1	335	0.0030	102	c.120 others(121): Show c.1201-5526_1201-5525insATATATATATATATATATATATATAT ATATACACACACACACTATATATACACACACACATGCATATACATATGTG TTGTGTGTGTGTGTTTGTGTGTGTGT	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(95): Show GTATATATATATATATATATATACACACACACACTATATATACACACACA CATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATATAT ATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0284 a0001c0001t0007g0285 a0001c0001t0007g0284 a0001c0001t0007g0285	2	24	0.0833	102	c.120 others(121): Show c.1201-5503_1201-5502insCACACACACACTATATATACACACAC ACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATATA TATATATATATATATATATATATATA	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(95): Show GTATATATATATATATATATATATATACACACACACACTATATATACACA CACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTATAT ATA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0046 a0001c0003t0003g0046	1	23	0.0435	102	c.120 others(121): Show c.1201-5499_1201-5498insCACACACACACTATATATACACACAC ACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTATATATA TATATATATATATATATATATATATA	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(95): Show GTATATATATATATATATATATATATATACACACACACACTATATATACA CACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGT ATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0305 a0001c0001t0002g0305	1	23	0.0435	102	c.120 others(121): Show c.1201-5497_1201-5496insCACACACACACTATATATACACACAC ACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATATA TATATATATATATATATATATATATA	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(95): Show GTATATATATATATATATATATATATATACACACACTATATATACACACA CACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATAT ATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01257.hp2 HG01433.hp2 others(5): Show HG00323.hp2 HG01257.hp2 HG01433.hp2 HG02559.hp1 HG03041.hp1 HG03516.hp1 NA18522.hp1 NA19043.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0008 a0008c0013 a0001c0001 a0001c0008 a0008c0013	a0001c0001t0002 a0001c0001t0005 a0001c0008t0005 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0008t0005 a0008c0013t0002	a0001c0001t0002g0009 a0001c0001t0002g0172 a0001c0001t0002g0250 others(5): Show a0001c0001t0002g0009 a0001c0001t0002g0172 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0005g0184 a0001c0001t0005g0269 a0001c0008t0005g0063 a0008c0013t0002g0008	8	30	0.2667	102	c.120 others(121): Show c.1201-5497_1201-5496insCACACACTATATATACACACACACAT GCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATATATATA TATATATATATATATATATATATATA	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(95): Show GTATATATATATATATATATATATATATATACACACACACACTATATATA CACACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGT ATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0237 a0001c0003t0021g0237	1	23	0.0435	102	c.120 others(121): Show c.1201-5495_1201-5494insCACACACACACTATATATACACACAC ACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTATATATA TATATATATATATATATATATATATA	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(95): Show GTATATATATATATATATATATATATATATACACACACACACTATATATA CACACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGT GTA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0191 a0001c0004t0008g0191	1	23	0.0435	102	c.120 others(121): Show c.1201-5495_1201-5494insCACACACACACTATATATACACACAC ACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATATA TATATATATATATATATATATATATA	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATATAT others(95): Show GTATATATATATATATATATATATATATATATACACACACACACTATATA TACACACACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGT GTA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0082 a0001c0003t0003g0082	1	23	0.0435	102	c.120 others(121): Show c.1201-5493_1201-5492insCACACACACACTATATATACACACAC ACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTATATATA TATATATATATATATATATATATATA	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATGTAT others(95): Show GTATGTATATATATATATATATATACACACACACACTATATATACACACA CACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATAT ATA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0312 a0001c0001t0005g0312	1	23	0.0435	102	c.120 others(121): Show c.1201-5522_1201-5521insGTATATATATATATATATATACACAC ACACACTATATATACACACACACATGCATATACATATGTGTTGTGTGTGT GTGTTTGTGTGTGTGTATATATATAT	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTATGTAT others(95): Show GTATGTATATATATATATATATATATACACACACACACTATATATACACA CACACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTATAT ATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02630.hp1 HG02976.hp2 others(2): Show HG01358.hp1 HG02630.hp1 HG02976.hp2 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0004t0012 a0001c0004t0022 others(1): Show a0001c0001t0005 a0001c0004t0012 a0001c0004t0022 a0001c0004t0029	a0001c0001t0005g0225 a0001c0004t0012g0128 a0001c0004t0012g0129 others(2): Show a0001c0001t0005g0225 a0001c0004t0012g0128 a0001c0004t0012g0129 a0001c0004t0022g0256 a0001c0004t0029g0190	5	27	0.1852	102	c.120 others(121): Show c.1201-5522_1201-5521insGTATATATATATATATATATATACAC ACACACACTATATATACACACACACATGCATATACATATGTGTTGTGTGT GTGTGTTTGTGTGTGTATATATATAT	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MET_chr7_116667196_116803377	116726143	G G	GTGTATAT others(95): Show GTGTATATATATATATATATATATATATACACACACTATATATACACACA CACATGCATATACATATGTGTTGTGTGTGTGTGTTTGTGTGTGTGTATAT ATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01261.hp2 HG00741.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0005g0193 a0001c0001t0005g0194	2	24	0.0833	102	c.120 others(121): Show c.1201-5524_1201-5523insGTATATATATATATATATATATATAT ACACACACTATATATACACACACACATGCATATACATATGTGTTGTGTGT GTGTGTTTGTGTGTGTGTATATATAT	MET	ENSG00000105976.16	transcript	ENST00000397752.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142067986	A A	ATATATAT others(95): Show ATATATATATATATAAATATATATATATATATATAAATATATATATATAT ATATATATATATATATATAAATATATATATATATATATATATATATTTTT TTT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA19005.hp1 NA18956.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0244 a0001c0001t0001g0221 a0001c0001t0001g0244	2	155	0.0129	102	c.500 others(119): Show c.5004+562_5004+563insATATATATATATAAATATATATATATAT ATATAAATATATATATATATATATATATATATATATATAAATATATATAT ATATATATATATATATTTTTTTTT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	42/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGARP_chr4_139261165_139285225	139262411	T T	TTAGATAT others(95): Show TTAGATATATATATATAAGAAATTCTTAAAATATATATATTCTTATATAT ATATATATATTCATATATATATATATATATTCATATATATATATATATAT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	353	0.0028	102	c.41 others(113): Show c.4187_*4188insTATATATATATATATATATATGAATATATATATA TATATATGAATATATATATATATATAAGAATATATATATTTTAAGAATTT CTTATATATATATATCTA	MGARP	ENSG00000137463.5	transcript	ENST00000398955.2	protein_coding		3753		chr4	TogoVar
MIA3_chr1_222613097_222673007	222617967	T T	TCCCCGCC others(95): Show TCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCGTCCCCGCCCCAGCCC CCGCCCCAGCCCCCCCGTCCCCGCCCCGTCCCCGCCCCCGTCCCCGCCCC CGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0210 a0001c0002t0001g0210	1	143	0.0070	102	c.-14 others(111): Show c.-144_-143insCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCGTC CCCGCCCCAGCCCCCGCCCCAGCCCCCCCGTCCCCGCCCCGTCCCCGCCC CCGTCCCCGCCCCCGC	MIA3	ENSG00000154305.18	transcript	ENST00000344922.10	protein_coding		129		chr1	TogoVar
MLPH_chr2_237482251_237560322	237543630	G G	GGAGGGGA others(95): Show GGAGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTG AGT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0156 a0002c0002t0002g0156	1	253	0.0040	102	c.153 others(119): Show c.1539+972_1539+973insAGGGGACAGTGGTGAGTGGGGGGACAGT GGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGT GGCAAGTGGGCACAGTGGTGAGTG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543926	G G	GGGACAGT others(95): Show GGGACAGTGTGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTG GGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGTG GGC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0017 a0005c0004t0001g0017	1	248	0.0040	102	c.153 others(121): Show c.1539+1267_1539+1268insGGACAGTGTGTGGGGGGACAGTGGTG AGTTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTAAT GAGTCGGGGGACAGTGGTGAGTGGGC	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MN1_chr22_27743277_27806756	27805650	G G	GCACACAC others(95): Show GCACACACACACACACACATACACCTCCATAGTGTGTGGCTATGTCAGCA CACACACACACACACACATATACACCTCCATAGCGTGTGGCTATGTCAGC ACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	373	0.0027	102	c.-51 others(113): Show c.-5108_-5107insTGTGCTGACATAGCCACACGCTATGGAGGTGTAT ATGTGTGTGTGTGTGTGTGTGCTGACATAGCCACACACTATGGAGGTGTA TGTGTGTGTGTGTGTGTG	MN1	ENSG00000169184.7	transcript	ENST00000302326.5	protein_coding		3895		chr22	TogoVar
MN1_chr22_27743277_27806756	27805671	C C	CACCTCCA others(95): Show CACCTCCATAGTGTGTGGCTATGTCAGCACACACACACACACACACATAT ACACCTCCATAGCGTGTGGCTATGTCAGCACACACACACACACACACACA CAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0042 a0002c0003t0042	a0002c0003t0042g0031 a0002c0003t0042g0031	1	375	0.0027	102	c.-51 others(113): Show c.-5129_-5128insATGTGTGTGTGTGTGTGTGTGTGTGCTGACATAG CCACACGCTATGGAGGTGTATATGTGTGTGTGTGTGTGTGTGCTGACATA GCCACACACTATGGAGGT	MN1	ENSG00000169184.7	transcript	ENST00000302326.5	protein_coding		3916		chr22	TogoVar
MN1_chr22_27743277_27806756	27805686	T T	TGTGTGGC others(95): Show TGTGTGGCTATGTCAGCACACACACACACACATATACACCTCCATAGCGT GTGGCTATGTCAGCACACACACACACACACACACACATATACACCTCCAT AGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG03225.hp2 NA19043.hp2 others(1): Show HG01192.hp2 HG03225.hp2 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0057 a0001c0001t0001 a0001c0001t0002 a0001c0001t0057	a0001c0001t0001g0098 a0001c0001t0002g0071 a0001c0001t0002g0151 others(1): Show a0001c0001t0001g0098 a0001c0001t0002g0071 a0001c0001t0002g0151 a0001c0001t0057g0238	4	374	0.0107	102	c.-51 others(113): Show c.-5144_-5143insGCTATGGAGGTGTATATGTGTGTGTGTGTGTGTG TGTGTGCTGACATAGCCACACGCTATGGAGGTGTATATGTGTGTGTGTGT GTGCTGACATAGCCACAC	MN1	ENSG00000169184.7	transcript	ENST00000302326.5	protein_coding		3931		chr22	TogoVar
MN1_chr22_27743277_27806756	27805701	G G	GCACACAC others(95): Show GCACACACACACACACACACATATACACCTCCATAGCGTGTGGCTATGTC AGCACACACACACACACATATACACCTCCATAGCGTGTGGCTATGTCAGC ACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0073 a0002c0006t0073	a0002c0006t0073g0379 a0002c0006t0073g0379	1	132	0.0076	102	c.-51 others(113): Show c.-5159_-5158insTGTGCTGACATAGCCACACGCTATGGAGGTGTAT ATGTGTGTGTGTGTGTGCTGACATAGCCACACGCTATGGAGGTGTATATG TGTGTGTGTGTGTGTGTG	MN1	ENSG00000169184.7	transcript	ENST00000302326.5	protein_coding		3946		chr22	TogoVar
MOB3B_chr9_27320209_27534814	27357121	A A	AATATATA others(95): Show AATATATATATATATATATATATATGTATATATATATATATATATATATA TATATATATATATATGTATATACATATATATATATATATATGTATATATA TAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0082 a0001c0001t0089g0082	1	197	0.0051	102	c.621 others(119): Show c.621+1912_621+1913insATATATATATACATATATATATATATAT ATGTATATACATATATATATATATATATATATATATATATATATATATAC ATATATATATATATATATATATAT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar

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