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
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0232 a0002c0002t0002g0232	1	328	0.0031	17	c.114 others(36): Show c.114+11389_114+11390insAAATATATATATATATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAATATAT others(10): Show AAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0237 a0002c0002t0002g0237	1	328	0.0031	17	c.114 others(36): Show c.114+11389_114+11390insATATATATATATATATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPKBP1_chr15_41769484_41832855	41803434	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0167 a0001c0003t0001g0167	1	328	0.0031	17	c.206 others(34): Show c.206+3521_206+3522insAAAAAAAAAAAAAAAGA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPRE2_chr18_35036413_35148470	35063999	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	370	0.0027	17	c.123 others(34): Show c.123-6196_123-6195insAAAAAAAAAAAAAAAAA	MAPRE2	ENSG00000166974.13	transcript	ENST00000300249.10	protein_coding	1/6			chr18	TogoVar
MAPRE2_chr18_35036413_35148470	35064000	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	370	0.0027	17	c.123 others(34): Show c.123-6178_123-6162dupAAAAAAAAAAAAAAAAA	MAPRE2	ENSG00000166974.13	transcript	ENST00000300249.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
MAPT_chr17_45889554_46033334	46017440	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02735.hp2 HG02897.hp2 others(1): Show HG01167.hp2 HG02735.hp2 HG02897.hp2 HG03704.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0005 a0003c0004 a0004c0005	a0003c0004t0004 a0003c0004t0011 a0004c0005t0005 a0003c0004t0004 a0003c0004t0011 a0004c0005t0005	a0003c0004t0004g0019 a0003c0004t0004g0021 a0003c0004t0011g0015 others(1): Show a0003c0004t0004g0019 a0003c0004t0004g0021 a0003c0004t0011g0015 a0004c0005t0005g0039	4	253	0.0158	17	c.217 others(36): Show c.2174-1164_2174-1148dupTTTTTTTTTTTTTTTTT	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MARCHF10_chr17_62696314_62813314	62723559	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01952.hp1 HG02280.hp2 others(5): Show HG01943.hp1 HG01952.hp1 HG02280.hp2 HG03195.hp2 NA18947.hp2 NA18966.hp1 NA18983.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0068 a0001c0001t0001g0248 a0001c0001t0001g0268 others(5): Show a0001c0001t0001g0068 a0001c0001t0001g0248 a0001c0001t0001g0268 a0001c0001t0002g0021 a0001c0001t0002g0073 a0001c0001t0002g0104 a0001c0001t0004g0162 a0001c0001t0004g0173	8	280	0.0286	17	c.210 others(34): Show c.2105-979_2105-963dupAAAAAAAAAAAAAAAAA	MARCHF10	ENSG00000173838.12	transcript	ENST00000311269.10	protein_coding	7/10			chr17	TogoVar
MARCHF11_chr5_16062139_16184791	16107855	G G	GGAGTTCG others(10): Show GGAGTTCGGCCGCTGGAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	298	0.0034	17	c.694 others(36): Show c.694-16791_694-16775dupATCCAGCGGCCGAACTC	MARCHF11	ENSG00000183654.9	transcript	ENST00000332432.9	protein_coding	2/3			chr5	TogoVar
MARCHF1_chr4_163519718_164389019	163894910	T T	TATACATG others(10): Show TATACATGCATGTGATGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG02615.hp1 others(1): Show HG02258.hp2 HG02451.hp1 HG02615.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0024 a0001c0001t0001 a0001c0001t0014 a0001c0001t0024	a0001c0001t0001g0036 a0001c0001t0001g0083 a0001c0001t0014g0066 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0083 a0001c0001t0014g0066 a0001c0001t0024g0025	4	102	0.0392	17	c.-38 others(36): Show c.-38-40742_-38-40741insGCATCACATGCATGTAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163986249	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0042 a0001c0001t0007g0042	1	102	0.0098	17	c.-39 others(34): Show c.-39+2235_-39+2251dupAAAAAAAAAAAAAAAAA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164081207	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0077 a0002c0004t0003g0077	1	102	0.0098	17	c.-24 others(38): Show c.-248+30364_-248+30380dupTTTTTTTTTTTTTTTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	2/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164089674	A A	AGATCCTC others(10): Show AGATCCTCAAGATCCTTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02055.hp1 others(20): Show HG01109.hp2 HG01884.hp1 HG02055.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02615.hp2 HG02723.hp2 HG03041.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG04115.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18963.hp2 NA19030.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0002t0003 a0001c0002t0028 a0001c0005t0016 a0002c0003t0005 a0002c0004t0029	a0001c0001t0001g0007 a0001c0001t0005g0037 a0001c0001t0005g0074 others(20): Show a0001c0001t0001g0007 a0001c0001t0005g0037 a0001c0001t0005g0074 a0001c0001t0006g0008 a0001c0001t0006g0053 a0001c0001t0006g0072 a0001c0001t0006g0098 a0001c0001t0007g0042 a0001c0001t0007g0043 a0001c0001t0007g0051 a0001c0001t0013g0015 a0001c0001t0013g0018 a0001c0001t0019g0067 a0001c0001t0020g0070 a0001c0001t0022g0040 a0001c0001t0025g0101 a0001c0001t0026g0032 a0001c0002t0003g0016 a0001c0002t0003g0096 a0001c0002t0028g0099 a0001c0005t0016g0048 a0002c0003t0005g0045 a0002c0004t0029g0047	23	102	0.2255	17	c.-24 others(38): Show c.-248+21897_-248+21913dupCAAGGATCTTGAGGATC	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	2/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164313348	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0012 a0001c0002t0015g0012	1	102	0.0098	17	c.-32 others(38): Show c.-323+70505_-323+70521dupTTTTTTTTTTTTTTTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164356781	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAGC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03490.hp1 NA19058.hp1 others(1): Show HG02132.hp2 HG03490.hp1 NA19058.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0003 a0002c0003t0001g0002 a0002c0003t0001g0005 others(1): Show a0001c0001t0001g0003 a0002c0003t0001g0002 a0002c0003t0001g0005 a0002c0003t0001g0006	4	102	0.0392	17	c.-32 others(38): Show c.-323+27088_-323+27089insGCTTTTTTTTTTTTTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF2_chr19_8408305_8444017	8413096	T T	TGCTGGGG others(10): Show TGCTGGGGCGGAGCCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02615.hp1 HG02630.hp2 others(5): Show HG02257.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG03098.hp1 HG03130.hp2 HG03516.hp1 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0003 a0001c0001t0013 a0001c0001t0029 others(2): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0029 a0004c0004t0010 a0004c0004t0013	a0001c0001t0003g0379 a0001c0001t0013g0380 a0001c0001t0013g0383 others(5): Show a0001c0001t0003g0379 a0001c0001t0013g0380 a0001c0001t0013g0383 a0001c0001t0029g0382 a0004c0004t0010g0385 a0004c0004t0010g0386 a0004c0004t0013g0381 a0004c0004t0013g0384	8	392	0.0204	17	c.-37 others(26): Show c.-377_-376insGCTGGGGCGGAGCCGGA	MARCHF2	ENSG00000099785.11	transcript	ENST00000215555.7	protein_coding		208		chr19	TogoVar
MARCHF2_chr19_8408305_8444017	8415721	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0006 a0002c0002t0003g0006	1	392	0.0026	17	c.-53 others(34): Show c.-53+2314_-53+2315insAAAAAAAAAAAAAAAAA	MARCHF2	ENSG00000099785.11	transcript	ENST00000215555.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
MARCHF2_chr19_8408305_8444017	8441431	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG03942.hp1 HG01243.hp2 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0012 a0002c0002t0008g0104 a0002c0002t0008g0012 a0002c0002t0008g0104	2	392	0.0051	17	c.28 others(28): Show c.2885_*2886insCTCTCTCTCTCTCTCTC	MARCHF2	ENSG00000099785.11	transcript	ENST00000215555.7	protein_coding		2415		chr19	TogoVar
MARCHF3_chr5_126862714_127035558	126866880	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0146 a0001c0001t0022g0146	1	296	0.0034	17	c.37 others(28): Show c.3752_*3753insTTTTTTTTTTTTTTTTT	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding		833		chr5	TogoVar
MARCHF3_chr5_126862714_127035558	126897045	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02080.hp2 HG02258.hp2 others(15): Show HG01884.hp1 HG02080.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02572.hp2 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03540.hp2 NA18962.hp2 NA18967.hp1 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(9): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0017 a0001c0001t0021 a0001c0001t0027 a0001c0001t0040 a0001c0001t0047 a0001c0001t0048 a0001c0001t0072 a0001c0001t0081 a0001c0001t0090	a0001c0001t0002g0027 a0001c0001t0005g0172 a0001c0001t0010g0002 others(15): Show a0001c0001t0002g0027 a0001c0001t0005g0172 a0001c0001t0010g0002 a0001c0001t0010g0003 a0001c0001t0010g0004 a0001c0001t0010g0006 a0001c0001t0010g0007 a0001c0001t0010g0008 a0001c0001t0017g0189 a0001c0001t0021g0182 a0001c0001t0027g0252 a0001c0001t0027g0253 a0001c0001t0040g0005 a0001c0001t0047g0215 a0001c0001t0048g0235 a0001c0001t0072g0164 a0001c0001t0081g0075 a0001c0001t0090g0231	18	296	0.0608	17	c.393 others(36): Show c.393+17884_393+17885insAAAAAAAAAAAAAAAAA	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding	3/4			chr5	TogoVar
MARCHF3_chr5_126862714_127035558	126914767	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19076.hp2 NA19006.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0192 a0001c0001t0009g0198 a0001c0001t0003g0192 a0001c0001t0009g0198	2	296	0.0068	17	c.393 others(32): Show c.393+162_393+163insGTGTGTGTGTGTGTGTG	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding	3/4			chr5	TogoVar
MARCHF3_chr5_126862714_127035558	126966905	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0131 a0001c0001t0004g0131	1	296	0.0034	17	c.-56 others(36): Show c.-56-48695_-56-48679dupAAAAAAAAAAAAAAAAA	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding	1/4			chr5	TogoVar
MARCHF3_chr5_126862714_127035558	126992766	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18981.hp1 HG02559.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0031 a0001c0001t0011 a0001c0001t0031	a0001c0001t0011g0241 a0001c0001t0031g0246 a0001c0001t0011g0241 a0001c0001t0031g0246	2	296	0.0068	17	c.-57 others(36): Show c.-57+37567_-57+37583dupAAAAAAAAAAAAAAAAA	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding	1/4			chr5	TogoVar
MARCHF4_chr2_216252865_216377483	216336742	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0018 a0001c0002t0019g0018	1	330	0.0030	17	c.516 others(36): Show c.516+32986_516+33002dupTTTTTTTTTTTTTTTTT	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3			chr2	TogoVar
MARCHF4_chr2_216252865_216377483	216354986	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	330	0.0030	17	c.516 others(36): Show c.516+14758_516+14759insGAAAGAAAGAAAGAAAG	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3			chr2	TogoVar
MARCHF4_chr2_216252865_216377483	216374769	G G	GGAAAGAA others(10): Show GGAAAGAAAGAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0089 a0001c0002t0004g0089	1	330	0.0030	17	c.-45 others(28): Show c.-4510_-4509insTCTTTCTTCTTTCTTTC	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding		2287		chr2	TogoVar
MARCHF5_chr10_92286167_92358964	92289732	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0067 a0001c0001t0006g0067	1	306	0.0033	17	c.-17 others(28): Show c.-1763_-1762insAAAAAAAAAAAAAAAAT	MARCHF5	ENSG00000198060.10	transcript	ENST00000358935.3	protein_coding		1434		chr10	TogoVar
MARCHF7_chr2_159707506_159776027	159776012	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG03704.hp1 HG02004.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0324 a0001c0001t0002g0286 a0001c0001t0002g0324	2	364	0.0055	17	c.86 others(28): Show c.8670_*8671insTTTTTTTTTTTTTTTTT	MARCHF7	ENSG00000136536.15	transcript	ENST00000409175.6	protein_coding		4986		chr2	TogoVar
MARF1_chr16_15589387_15648154	15613684	T T	TAAATAAA others(10): Show TAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02970.hp2 HG02976.hp1 others(5): Show HG01891.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp2 HG03195.hp2 HG03486.hp1 NA19066.hp1 homoSapiens_chm13v2.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0012 a0001c0001 a0010c0012	a0001c0001t0001 a0001c0001t0007 a0010c0012t0001 a0001c0001t0001 a0001c0001t0007 a0010c0012t0001	a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0268 others(4): Show a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0268 a0001c0001t0007g0020 a0001c0001t0007g0077 a0001c0001t0007g0078 a0010c0012t0001g0138	8	393	0.0204	17	c.325 others(34): Show c.3254-908_3254-907insTATTTATTTATTTATTT	MARF1	ENSG00000166783.22	transcript	ENST00000396368.8	protein_coding	16/26			chr16	TogoVar
MARK3_chr14_103380415_103508831	103389528	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0217 a0008c0013t0001g0217	1	348	0.0029	17	c.51+ others(32): Show c.51+3452_51+3468dupAAAAAAAAAAAAAAAAA	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK3_chr14_103380415_103508831	103423200	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	348	0.0029	17	c.244 others(34): Show c.244-5173_244-5172insTTTTTTTTTTTTTTTTT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK3_chr14_103380415_103508831	103460073	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01934.hp1 HG01952.hp2 others(2): Show HG01071.hp2 HG01934.hp1 HG01952.hp2 HG02257.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0064 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0335	5	348	0.0144	17	c.484 others(34): Show c.484-2317_484-2301dupTTTTTTTTTTTTTTTTT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK3_chr14_103380415_103508831	103467674	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18963.hp2 HG01081.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0073 a0001c0001t0005g0094 a0001c0001t0001g0073 a0001c0001t0005g0094	2	348	0.0058	17	c.111 others(34): Show c.1111-352_1111-336dupAAAAAAAAAAAAAAAAA	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK3_chr14_103380415_103508831	103470453	C C	CAATTTTT others(10): Show CAATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03704.hp1 HG00741.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0193 a0001c0001t0002g0126 a0001c0001t0002g0193	2	348	0.0058	17	c.126 others(36): Show c.1264+2267_1264+2268insAATTTTTTTTTTTTTTT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	12/17			chr14	TogoVar
MARK3_chr14_103380415_103508831	103470455	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(30): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00544.hp2 HG00609.hp2 HG01168.hp1 HG01169.hp2 HG01257.hp1 HG01433.hp1 HG01975.hp2 HG02004.hp2 HG02165.hp1 HG02300.hp1 HG02523.hp1 HG03654.hp2 HG03834.hp1 HG04184.hp2 NA18612.hp1 NA18950.hp2 NA18961.hp2 NA18963.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp2 NA19055.hp1 NA19056.hp1 NA19063.hp1 NA19063.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0250 a0001c0001t0002g0110 a0001c0001t0002g0111 others(30): Show a0001c0001t0001g0250 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0131 a0001c0001t0002g0134 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186	33	348	0.0948	17	c.126 others(36): Show c.1264+2270_1264+2286dupTTTTTTTTTTTTTTTTT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK3_chr14_103380415_103508831	103485063	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01981.hp1 HG02015.hp2 others(4): Show HG01168.hp2 HG01981.hp1 HG02015.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0004t0004 a0001c0001t0001 a0001c0001t0004 a0001c0004t0004	a0001c0001t0001g0002 a0001c0001t0001g0069 a0001c0001t0001g0093 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0069 a0001c0001t0001g0093 a0001c0001t0004g0084 a0001c0001t0004g0088 a0001c0004t0004g0086 a0001c0004t0004g0087	7	348	0.0201	17	c.158 others(36): Show c.1586+4574_1586+4590dupAAAAAAAAAAAAAAAAA	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARS1_chr12_57483068_57521652	57493464	A A	ATATAATA others(10): Show ATATAATATATAATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	288	0.0035	17	c.770 others(34): Show c.770+2821_770+2837dupTATAATATATAATATAT	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MARS1_chr12_57483068_57521652	57493526	T T	TTATAATA others(10): Show TTATAATATATAATATAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	288	0.0035	17	c.770 others(34): Show c.770+2898_770+2899insATATAATATATAATATA	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MARS1_chr12_57483068_57521652	57493598	A A	ATATAATA others(10): Show ATATAATATATAATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02895.hp1 HG02897.hp2 HG02615.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0205	3	288	0.0104	17	c.770 others(34): Show c.770+2966_770+2982dupATATATTATAATATATA	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MARS1_chr12_57483068_57521652	57493776	T T	TATATATT others(10): Show TATATATTATAATATATA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18974.hp2 NA18990.hp2 others(2): Show NA18943.hp1 NA18974.hp2 NA18990.hp2 NA19088.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0089 others(2): Show a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0148	5	288	0.0174	17	c.770 others(34): Show c.770+3142_770+3143insATATATAATATATTATA	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MARS1_chr12_57483068_57521652	57493776	T T	TATATATT others(10): Show TATATATTATATATTATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03041.hp1 HG03225.hp1 others(2): Show HG01884.hp2 HG03041.hp1 HG03225.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0229 a0001c0003t0001g0179 a0001c0003t0001g0180 others(2): Show a0001c0001t0001g0229 a0001c0003t0001g0179 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0001g0182	5	288	0.0174	17	c.770 others(34): Show c.770+3133_770+3149dupATATATTATATATTATA	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MARS1_chr12_57483068_57521652	57493782	T T	TTATATAT others(10): Show TTATATATTATAATATAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01358.hp2 HG02004.hp1 others(1): Show HG00621.hp1 HG01358.hp2 HG02004.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0122 others(1): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0122 a0001c0001t0001g0139	4	288	0.0139	17	c.770 others(34): Show c.770+3149_770+3150insATATAATATATATTATA	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MARS1_chr12_57483068_57521652	57493783	T T	TATATATT others(10): Show TATATATTATAATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18966.hp1 HG00544.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0216 a0001c0001t0001g0048 a0001c0001t0001g0216	2	288	0.0069	17	c.770 others(34): Show c.770+3149_770+3150insATATATAATATATTATA	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MAST1_chr19_12833515_12879952	12833727	C C	CGCCCCTT others(10): Show CGCCCCTTCCCCCCGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG02273.hp1 NA18945.hp1 others(8): Show HG01070.hp1 HG02273.hp1 NA18945.hp1 NA18950.hp2 NA18960.hp2 NA18971.hp2 NA18999.hp2 NA19005.hp2 NA19009.hp1 NA19077.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0020 a0001c0001 a0001c0002 a0001c0020	a0001c0001t0001 a0001c0002t0001 a0001c0020t0001 a0001c0001t0001 a0001c0002t0001 a0001c0020t0001	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 others(8): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0002t0001g0088 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0137 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0175 a0001c0020t0001g0171	11	316	0.0348	17	c.-48 others(28): Show c.-4846_-4845insGCCCCTTCCCCCCGCCA	MAST1	ENSG00000105613.10	transcript	ENST00000251472.9	protein_coding		4787		chr19	TogoVar
MAST1_chr19_12833515_12879952	12868103	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp1 HG01168.hp2 others(22): Show HG00597.hp1 HG00673.hp1 HG01168.hp2 HG01981.hp2 HG02080.hp1 HG02165.hp1 HG02165.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG04115.hp2 NA18522.hp2 NA18747.hp2 NA18939.hp2 NA18942.hp2 NA18952.hp1 NA18957.hp1 NA18959.hp2 NA18984.hp2 NA19003.hp1 NA19074.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0012 a0006c0013 a0001c0001 a0002c0012 a0006c0013	a0001c0001t0001 a0002c0012t0001 a0006c0013t0001 a0001c0001t0001 a0002c0012t0001 a0006c0013t0001	a0001c0001t0001g0011 a0001c0001t0001g0209 a0001c0001t0001g0212 others(22): Show a0001c0001t0001g0011 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0220 a0001c0001t0001g0229 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0291 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0002c0012t0001g0234 a0006c0013t0001g0217	25	316	0.0791	17	c.256 others(34): Show c.2566+133_2566+149dupTTTTTTTTTTTTTTTTT	MAST1	ENSG00000105613.10	transcript	ENST00000251472.9	protein_coding	20/25		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST2_chr1_45798612_46041122	45883912	G G	GCCCCCCC others(10): Show GCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03540.hp1 HG02559.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0245 a0001c0001t0001g0248	2	288	0.0069	17	c.500 others(34): Show c.500+1525_500+1526insCCCCCCCCCCCCCCCCC	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST2_chr1_45798612_46041122	45883912	G G	GCCTCCCC others(10): Show GCCTCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(21): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00642.hp2 HG00735.hp2 HG01071.hp2 HG01106.hp1 HG01258.hp2 HG01515.hp1 HG02027.hp2 HG02055.hp2 HG02622.hp2 HG02735.hp1 HG03225.hp2 HG03834.hp1 NA18522.hp2 NA18944.hp1 NA18952.hp1 NA18966.hp1 NA18974.hp2 NA18981.hp2 NA18984.hp2 NA19009.hp1 NA19240.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0015 a0001c0025 others(2): Show a0001c0001 a0001c0015 a0001c0025 a0007c0008 a0008c0010	a0001c0001t0001 a0001c0015t0001 a0001c0025t0001 others(2): Show a0001c0001t0001 a0001c0015t0001 a0001c0025t0001 a0007c0008t0001 a0008c0010t0001	a0001c0001t0001g0145 a0001c0001t0001g0166 a0001c0001t0001g0169 others(21): Show a0001c0001t0001g0145 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0015t0001g0163 a0001c0025t0001g0170 a0007c0008t0001g0195 a0007c0008t0001g0196 a0008c0010t0001g0174	24	288	0.0833	17	c.500 others(34): Show c.500+1519_500+1520insTCCCCCCCCCCCCCCCC	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST2_chr1_45798612_46041122	45888663	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02683.hp2 HG03239.hp2 HG00609.hp1 HG02683.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0256 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0256	3	288	0.0104	17	c.500 others(34): Show c.500+6288_500+6304dupTTTTTTTTTTTTTTTTT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST2_chr1_45798612_46041122	45900195	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAGATT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02886.hp2 others(3): Show HG01891.hp1 HG01891.hp2 HG02886.hp2 HG02897.hp1 HG03579.hp2 NA18906.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0002c0007 a0002c0009 others(1): Show a0002c0002 a0002c0007 a0002c0009 a0010c0013	a0002c0002t0001 a0002c0007t0001 a0002c0009t0001 others(1): Show a0002c0002t0001 a0002c0007t0001 a0002c0009t0001 a0010c0013t0001	a0002c0002t0001g0038 a0002c0007t0001g0120 a0002c0007t0001g0134 others(3): Show a0002c0002t0001g0038 a0002c0007t0001g0120 a0002c0007t0001g0134 a0002c0007t0001g0135 a0002c0009t0001g0123 a0010c0013t0001g0128	6	288	0.0208	17	c.500 others(36): Show c.500+17800_500+17801insAAAAAAAAAAAAAGATT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28			chr1	TogoVar
MAST3_chr19_18092778_18156687	18111530	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0067 a0001c0005t0006g0067	1	296	0.0034	17	c.161 others(32): Show c.161+795_161+811dupTTTTTTTTTTTTTTTTT	MAST3	ENSG00000099308.13	transcript	ENST00000687212.1	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST4_chr5_66591393_67174593	66847820	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03540.hp1 HG02886.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0009t0002 a0001c0003t0001 a0001c0009t0002	a0001c0003t0001g0077 a0001c0009t0002g0006 a0001c0003t0001g0077 a0001c0009t0002g0006	2	108	0.0185	17	c.643 others(36): Show c.643-52124_643-52108dupAAAAAAAAAAAAAAAAA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr5	TogoVar

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