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
LTBP2_chr14_74493183_74617237	74564243	T T	TTATATAT others(39): Show TTATATATATATTTATATATATTTATATATATTTATATATATATTTA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0012 a0003c0020t0012	a0003c0020t0012g0147 a0003c0020t0012g0147	1	190	0.0053	46	c.831 others(63): Show c.831-8551_831-8550insTAAATATATATATAAATATATATAAATA TATATAAATATATATATA	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35			chr14	TogoVar
LTBP2_chr14_74493183_74617237	74564253	T T	TTATATAT others(39): Show TTATATATATATTTATATATATATTTATATATATTTATATATATTTA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0032 a0002c0004t0004g0032	1	202	0.0050	46	c.831 others(63): Show c.831-8561_831-8560insTAAATATATATAAATATATATAAATATA TATATAAATATATATATA	LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35			chr14	TogoVar
LURAP1L_chr9_12770020_12828060	12807094	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01943.hp2 HG01952.hp2 others(5): Show HG01081.hp1 HG01943.hp2 HG01952.hp2 HG03669.hp1 HG06807.hp1 NA19005.hp1 NA19058.hp1 NA19088.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0002 a0004c0004t0002	a0001c0001t0001g0174 a0001c0001t0002g0122 a0001c0001t0002g0179 others(5): Show a0001c0001t0001g0174 a0001c0001t0002g0122 a0001c0001t0002g0179 a0001c0001t0002g0241 a0001c0001t0004g0282 a0001c0001t0004g0298 a0002c0002t0002g0054 a0004c0004t0002g0409	8	199	0.0402	46	c.313 others(65): Show c.313-14268_313-14267insATATATATATATATATATATATATAT ATATATATATATATATATAT	LURAP1L	ENSG00000153714.6	transcript	ENST00000319264.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
LUZP2_chr11_24492053_25087638	24774481	T T	TATATATA others(39): Show TATATATATAAAGAATATATATAGAATATATTCTATATATATGTAGA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01106.hp1 HG01071.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0027 a0001c0001t0002g0028	2	101	0.0198	46	c.396 others(65): Show c.396+11477_396+11522dupTATTCTATATATATGTAGAATATATA TAAAGAATATATATAGAATA	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	24774647	T T	TATTCTAT others(39): Show TATTCTATATATATGTAGAATATATATAAAGAATATATATAGAATAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18522.hp2 HG03486.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0037 a0001c0003t0007 a0001c0001t0037 a0001c0003t0007	a0001c0001t0037g0090 a0001c0003t0007g0077 a0001c0001t0037g0090 a0001c0003t0007g0077	2	116	0.0172	46	c.396 others(65): Show c.396+11384_396+11385insCATTCTATATATATGTAGAATATATA TAAAGAATATATATAGAATA	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	24774677	G G	GAATATAT others(39): Show GAATATATATAGAATATATTCTATATATATGTAGAATATATATAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	103	0.0097	46	c.396 others(65): Show c.396+11414_396+11415insAAATATATATAGAATATATTCTATAT ATATGTAGAATATATATAAA	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	24774693	T T	TATTCTAT others(39): Show TATTCTATATATATGTAGAATATATATAAAGAATATATATAGAATAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02451.hp2 NA20129.hp1 HG01109.hp1 HG02451.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0036 a0001c0001t0007g0035 a0001c0001t0007g0047 a0001c0001t0003g0036 a0001c0001t0007g0035 a0001c0001t0007g0047	3	114	0.0263	46	c.396 others(65): Show c.396+11430_396+11431insCATTCTATATATATGTAGAATATATA TAAAGAATATATATAGAATA	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	24774785	T T	TATTCTAT others(39): Show TATTCTATATATATGTAGAATATATATAAAGAATATATATAGAATAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG01106.hp2 others(38): Show HG00423.hp2 HG00621.hp2 HG01106.hp2 HG01256.hp2 HG01516.hp2 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02451.hp1 HG02559.hp2 HG02683.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03579.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18981.hp2 NA19030.hp1 NA19070.hp1 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(20): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0021 a0001c0001t0038 a0001c0003t0004 a0001c0003t0015 a0001c0003t0019 a0002c0002t0001 a0002c0002t0009 a0002c0002t0010 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0002t0027 a0004c0005t0002	a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0002g0020 others(38): Show a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0040 a0001c0001t0002g0099 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0114 a0001c0001t0004g0085 a0001c0001t0004g0105 a0001c0001t0005g0030 a0001c0001t0005g0049 a0001c0001t0006g0051 a0001c0001t0008g0007 a0001c0001t0008g0012 a0001c0001t0011g0038 a0001c0001t0012g0082 a0001c0001t0017g0018 a0001c0001t0017g0071 a0001c0001t0021g0093 a0001c0001t0038g0034 a0001c0003t0004g0004 a0001c0003t0004g0050 a0001c0003t0015g0091 a0001c0003t0019g0096 a0002c0002t0001g0011 a0002c0002t0001g0061 a0002c0002t0001g0067 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0092 a0002c0002t0009g0104 a0002c0002t0009g0116 a0002c0002t0010g0005 a0002c0002t0010g0079 a0002c0002t0022g0017 a0002c0002t0023g0022 a0002c0002t0024g0089 a0002c0002t0025g0072 a0002c0002t0027g0100 a0004c0005t0002g0087	41	97	0.4227	46	c.396 others(65): Show c.396+11517_396+11562dupAGAATACATTCTATATATATGTAGAA TATATATAAAGAATATATAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	25030893	A A	ATATATAT others(39): Show ATATATATAATATATATTGTATTATATATATATAATATATATTGTAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG03239.hp1 HG01943.hp1 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0092 a0002c0002t0001g0074 a0002c0002t0001g0092	2	83	0.0241	46	c.766 others(65): Show c.766-19137_766-19136insATATATATTGTATTATATATATATAA TATATATTGTATTATATATA	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
LY86_chr6_6583720_6659982	6585671	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	196	0.0051	46	c.-30 others(57): Show c.-3064_-3063insTATATATATATATATATATATATATATATATATA TATATATATATA	LY86	ENSG00000112799.9	transcript	ENST00000230568.5	protein_coding		3048		chr6	TogoVar
LYN_chr8_55874835_56019169	55942333	A A	ATATATAT others(39): Show ATATATATGTGTATATATATGTGTATATATATGTGTATATATATGTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0002 a0001c0001t0020g0002	2	235	0.0085	46	c.132 others(61): Show c.132+349_132+350insGTGTATATATATGTGTATATATATGTGTAT ATATATGTGTATATAT	LYN	ENSG00000254087.8	transcript	ENST00000519728.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
LYPD5_chr19_43790927_43807447	43794410	C C	CATATATA others(39): Show CATATATATATATACATACATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03098.hp2 HG06807.hp2 HG02976.hp2 HG03098.hp2 HG06807.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0010 a0002c0001t0006g0070 a0002c0001t0006g0010 a0002c0001t0006g0070	3	405	0.0074	46	c.31 others(57): Show c.3180_*3181insATATATATATATATATATATATATATATGTATGT ATATATATATAT	LYPD5	ENSG00000159871.15	transcript	ENST00000377950.8	protein_coding		1516		chr19	TogoVar
LYPD6B_chr2_149033699_149220262	149172486	T T	TCAGGTCA others(39): Show TCAGGTCAGAGTTGATGCAGGATGAGATTATGCCTTGTTCAGTGGTA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0223 a0001c0001t0001g0224	2	262	0.0076	46	c.77+ others(63): Show c.77+11654_77+11699dupGGTCAGAGTTGATGCAGGATGAGATTAT GCCTTGTTCAGTGGTACA	LYPD6B	ENSG00000150556.17	transcript	ENST00000409642.8	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
LYPLA1_chr8_54041367_54106947	54084133	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	258	0.0039	46	c.101 others(65): Show c.101+16774_101+16775insATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTTTTTTT	LYPLA1	ENSG00000120992.18	transcript	ENST00000316963.8	protein_coding	2/8			chr8	TogoVar
LYPLA1_chr8_54041367_54106947	54084133	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	258	0.0039	46	c.101 others(65): Show c.101+16774_101+16775insATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTT	LYPLA1	ENSG00000120992.18	transcript	ENST00000316963.8	protein_coding	2/8			chr8	TogoVar
LZTS1_chr8_20241165_20308963	20307803	G G	GATTCTCT others(39): Show GATTCTCTCTCTTTTCCTCCTCCTCCGTTGTTGTTGTTGAGAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0034 a0001c0002t0002g0034	1	404	0.0025	46	c.-41 others(57): Show c.-4199_-4198insATCTCTCTCAACAACAACAACGGAGGAGGAGGAA AAGAGAGAGAAT	LZTS1	ENSG00000061337.16	transcript	ENST00000381569.5	protein_coding		3841		chr8	TogoVar
MACF1_chr1_39199695_39492138	39296811	A A	AAAGGAAG others(39): Show AAAGGAAGGAAGGAAGGAAAAGAAAGAAAGAAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	107	0.0093	46	c.235 others(63): Show c.2356-791_2356-790insAAGAAAGAAAGAAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAA	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	20/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39307901	C C	CTTTCTTT others(39): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0187 a0002c0003t0001g0187	1	23	0.0435	46	c.279 others(65): Show c.2790-1666_2790-1665insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	23/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACIR_chr5_103253763_103283660	103261650	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0068 a0001c0002t0007g0068	1	340	0.0029	46	c.-11 others(65): Show c.-114+2797_-114+2798insTCTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261654	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0058 a0001c0002t0003g0058	1	335	0.0030	46	c.-11 others(65): Show c.-114+2801_-114+2802insTCTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACROD2_chr20_13990516_16058197	15869238	T T	TATATATA others(39): Show TATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	3	0.3333	46	c.727 others(63): Show c.727+6413_727+6414insTATATATATATATATATATAGAGAGAGA GAGAGAGAGAGAGAGAGA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAD1L1_chr7_1810795_2237945	2058068	C C	CAGAGGAG others(39): Show CAGAGGAGAGGAGAGGAGAGGCGCGGGGCTGGAGAGGGAGTGTGGCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03041.hp2 HG02615.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0139 a0001c0001t0001g0142	2	262	0.0076	46	c.121 others(67): Show c.1218+11125_1218+11126insGGCCACACTCCCTCTCCAGCCCCG CGCCTCTCCTCTCCTCTCCTCT	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210405	T T	TTCTAGGA others(39): Show TTCTAGGAGCCATATTCAGGACCGCCAGCCCGCATTCCCGTGGACTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02293.hp1 HG01081.hp2 HG02293.hp1	a0001 a0001	a0001c0004 a0001c0015 a0001c0004 a0001c0015	a0001c0004t0003 a0001c0015t0001 a0001c0004t0003 a0001c0015t0001	a0001c0004t0003g0119 a0001c0015t0001g0238 a0001c0004t0003g0119 a0001c0015t0001g0238	2	83	0.0241	46	c.986 others(63): Show c.986+2806_986+2807insGAGTCCACGGGAATGCGGGCTGGCGGTC CTGAATATGGCTCCTAGA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210405	T T	TTCTAGGA others(39): Show TTCTAGGAGCCATATTCGGGACCGCCAGCCCGCATTCCCGTGGACTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02886.hp2 NA20300.hp1 HG02145.hp2 HG02886.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0157	3	84	0.0357	46	c.986 others(63): Show c.986+2806_986+2807insGAGTCCACGGGAATGCGGGCTGGCGGTC CCGAATATGGCTCCTAGA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210405	T T	TTCTAGGA others(39): Show TTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01496.hp2 others(12): Show HG00140.hp1 HG00639.hp1 HG01496.hp2 HG01884.hp1 HG02080.hp1 HG02258.hp1 HG03516.hp1 HG04204.hp2 NA18940.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA19009.hp1 NA19240.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 a0001c0004t0003 a0001c0007t0004 a0002c0002t0001 a0002c0005t0001	a0001c0001t0001g0110 a0001c0001t0001g0170 a0001c0001t0001g0214 others(12): Show a0001c0001t0001g0110 a0001c0001t0001g0170 a0001c0001t0001g0214 a0001c0001t0009g0247 a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0062 a0001c0004t0003g0180 a0001c0007t0004g0079 a0001c0007t0004g0080 a0002c0002t0001g0010 a0002c0002t0001g0052 a0002c0005t0001g0090 a0002c0005t0001g0213 a0002c0005t0001g0215	15	96	0.1563	46	c.986 others(63): Show c.986+2761_986+2806dupGAGTCCACGGGAATGCGGGCTGGCGGTC CCGAATACGGCTCCTAGA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210422	G G	GGGACCGC others(39): Show GGGACCGCCAGCCCGCATTCCCGTGGACTCTCTAGGAGCCGTATTCA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	254	0.0039	46	c.986 others(63): Show c.986+2789_986+2790insTGAATACGGCTCCTAGAGAGTCCACGGG AATGCGGGCTGGCGGTCC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210435	C C	CGCATTCC others(39): Show CGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	260	0.0038	46	c.986 others(63): Show c.986+2776_986+2777insAGGCTGGCGGTCCCGAATACGGCTCCTA GAGAGTCCACGGGAATGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2210573	C C	CGCATTCC others(39): Show CGCATTCCCGTGGACTCTCTAGGAGCCGTATTCGGGACCGCCAGCCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0084 a0001c0010t0001g0084	1	210	0.0048	46	c.986 others(63): Show c.986+2638_986+2639insAGGCTGGCGGTCCCGAATACGGCTCCTA GAGAGTCCACGGGAATGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MAGI1_chr3_65348526_66043918	65395636	C C	CAAAAAAA others(39): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	18	0.0556	46	c.220 others(65): Show c.2200-4279_2200-4278insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	13/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65722727	T T	TGATAAAT others(39): Show TGATAAATAAATCATAAAATATGACATGAAAATAAATAAATATCATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	104	0.0096	46	c.314 others(67): Show c.314-100640_314-100639insTATGATATTTATTTATTTTCATGT CATATTTTATGATTTATTTATC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MAGI3_chr1_113385515_113690923	113416073	T T	TTAATCAC others(39): Show TTAATCACACATATCAATTATGTAATTAATCACACATATCAATTATG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0083 a0001c0001t0005g0083	1	234	0.0043	46	c.316 others(65): Show c.316+24728_316+24729insCACACATATCAATTATGTAATTAATC ACACATATCAATTATGTAAT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGT1_chrX_77820747_77900435	77834170	A A	ATATATAT others(39): Show ATATATATATGCATATATGTATATATATGCATATATATACATGTGTG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19080.hp2 NA18973.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	258	0.0078	46	c.902 others(63): Show c.902-3321_902-3276dupCACACATGTATATATATGCATATATATA CATATATGCATATATATA	MAGT1	ENSG00000102158.22	transcript	ENST00000618282.5	protein_coding	8/9			chrX	TogoVar
MALRD1_chr10_19043801_19739478	19315023	A A	ATAAATAT others(39): Show ATAAATATAATTTATATAAATATGTAAATATAATTTATATAAATATG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01081.hp2 HG01109.hp2 others(13): Show HG00544.hp2 HG01081.hp2 HG01109.hp2 HG01192.hp2 HG02071.hp1 HG02074.hp2 HG02523.hp1 HG02602.hp2 HG02622.hp1 HG02896.hp1 HG03130.hp1 HG03669.hp2 HG03704.hp1 NA18960.hp2 NA18971.hp1 NA20805.hp1	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0005 a0007 a0015 a0031 a0039 a0052 a0074	a0001c0003 a0001c0009 a0003c0001 others(9): Show a0001c0003 a0001c0009 a0003c0001 a0004c0096 a0005c0103 a0007c0058 a0007c0059 a0015c0018 a0031c0087 a0039c0054 a0052c0056 a0074c0030	a0001c0003t0001 a0001c0009t0001 a0003c0001t0001 others(10): Show a0001c0003t0001 a0001c0009t0001 a0003c0001t0001 a0003c0001t0002 a0004c0096t0001 a0005c0103t0002 a0007c0058t0001 a0007c0059t0001 a0015c0018t0001 a0031c0087t0002 a0039c0054t0001 a0052c0056t0002 a0074c0030t0001	a0001c0003t0001g0109 a0001c0003t0001g0122 a0001c0009t0001g0061 others(13): Show a0001c0003t0001g0109 a0001c0003t0001g0122 a0001c0009t0001g0061 a0003c0001t0001g0008 a0003c0001t0001g0135 a0003c0001t0002g0070 a0003c0001t0002g0091 a0004c0096t0001g0098 a0005c0103t0002g0077 a0007c0058t0001g0111 a0007c0059t0001g0041 a0015c0018t0001g0113 a0031c0087t0002g0064 a0039c0054t0001g0036 a0052c0056t0002g0147 a0074c0030t0001g0125	16	133	0.1203	46	c.342 others(65): Show c.3420-8910_3420-8865dupTAAATATGTAAATATAATTTATATAA ATATGTAAATATAATTTATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315085	G G	GAAATATG others(39): Show GAAATATGTAAATATAATTTATAGAAATATGTAAATATAATTTATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0031 a0001c0009t0001g0031	1	144	0.0069	46	c.342 others(65): Show c.3420-8819_3420-8818insTAAATATGTAAATATAATTTATAGAA ATATGTAAATATAATTTATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315154	G G	GAAATATG others(39): Show GAAATATGTAAATATAATTTATAGAAATATGTAAATATAATTTATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0082 a0082	a0082c0031 a0082c0031	a0082c0031t0001 a0082c0031t0001	a0082c0031t0001g0136 a0082c0031t0001g0136	1	115	0.0087	46	c.342 others(65): Show c.3420-8773_3420-8772insGAAATATGTAAATATAATTTATATAA ATATGTAAATATAATTTATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATAGA others(39): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	17	0.0588	46	c.191 others(65): Show c.1911+2785_1911+2786insTATAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(39): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0083 a0001c0001t0004g0083	1	17	0.0588	46	c.191 others(65): Show c.1911+2785_1911+2786insTATATATAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(39): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	17	0.0588	46	c.191 others(65): Show c.1911+2785_1911+2786insTATATATATAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(39): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	17	0.0588	46	c.191 others(65): Show c.1911+2785_1911+2786insTATATATATATAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(39): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp2 HG04228.hp1 HG02451.hp1 HG02622.hp2 HG04228.hp1	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0003c0003 a0009c0021 a0001c0001 a0003c0003 a0009c0021	a0001c0001t0001 a0003c0003t0001 a0009c0021t0001 a0001c0001t0001 a0003c0003t0001 a0009c0021t0001	a0001c0001t0001g0242 a0003c0003t0001g0025 a0009c0021t0001g0077 a0001c0001t0001g0242 a0003c0003t0001g0025 a0009c0021t0001g0077	3	19	0.1579	46	c.191 others(65): Show c.1911+2785_1911+2786insTATATATATATATAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(39): Show TATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19080.hp2 HG00609.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0245 a0001c0001t0001g0228 a0001c0001t0001g0245	2	18	0.1111	46	c.191 others(65): Show c.1911+2785_1911+2786insTATATATATATATATAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(39): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18944.hp2 HG02622.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0235 a0001c0001t0001g0037 a0001c0001t0001g0235	2	18	0.1111	46	c.191 others(65): Show c.1911+2785_1911+2786insTATATATATATATATATAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(39): Show TATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02976.hp2 HG00323.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0213 a0001c0001t0001g0062 a0001c0001t0001g0213	2	18	0.1111	46	c.191 others(65): Show c.1911+2785_1911+2786insTATATATATATATATATATAGAGAGA GAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC2_chr9_70038848_70231972	70221380	T T	TATATATA others(39): Show TATATATATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0109 a0001c0006t0008g0109	1	17	0.0588	46	c.191 others(65): Show c.1911+2785_1911+2786insTATATATATATATATATATATAGAGA GAGAGAGAGAGAGAGAGAGA	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAML3_chr4_139711753_140159184	140074177	A A	AAGAGAGA others(39): Show AAGAGAGAGAGAGAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG02258.hp2 others(5): Show HG00140.hp1 HG00639.hp1 HG02258.hp2 HG02896.hp2 HG02897.hp2 HG03239.hp2 HG03492.hp1 HG06807.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0003c0006 a0005c0008 a0006c0007	a0001c0001t0007 a0001c0002t0011 a0002c0003t0002 others(3): Show a0001c0001t0007 a0001c0002t0011 a0002c0003t0002 a0003c0006t0008 a0005c0008t0029 a0006c0007t0034	a0001c0001t0007g0091 a0001c0002t0011g0022 a0001c0002t0011g0049 others(5): Show a0001c0001t0007g0091 a0001c0002t0011g0022 a0001c0002t0011g0049 a0002c0003t0002g0107 a0003c0006t0008g0124 a0003c0006t0008g0127 a0005c0008t0029g0094 a0006c0007t0034g0084	8	87	0.0920	46	c.468 others(65): Show c.468+78682_468+78683insCTTTCTTTCTTTCTTTCTTTCTCTTT CTTTCTCTCTCTCTCTCTCT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAML3_chr4_139711753_140159184	140074199	G G	GAGAAAGA others(39): Show GAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAGAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0027 a0004c0005t0027	a0004c0005t0027g0004 a0004c0005t0027g0004	1	60	0.0167	46	c.468 others(65): Show c.468+78660_468+78661insTTCTCTTTCTTTCTCTCTCTCTCTCT TTCTTTCTTTCTTTCTTTCT	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAN1A2_chr1_117362449_117533872	117458485	A A	ATATATAT others(39): Show ATATATATATCTATATATATAGATATATATATATAGATATATATATC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0024 a0001c0001t0011g0024	1	353	0.0028	46	c.951 others(63): Show c.951-1995_951-1994insCTATATATATAGATATATATATATAGAT ATATATATCTATATATAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1C1_chr1_25611791_25789450	25644518	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0223	1	58	0.0172	46	c.540 others(65): Show c.540+26182_540+26183insATATATATATATATATATATATATAT ATATATATTTTTTTTTTTTT	MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAOB_chrX_43761610_43887450	43857134	G G	GATATATA others(39): Show GATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	228	0.0044	46	c.47- others(63): Show c.47-13371_47-13370insATATATATATATATATATATATATATAT ATATATATATATATATAT	MAOB	ENSG00000069535.14	transcript	ENST00000378069.5	protein_coding	1/14			chrX	TogoVar
MAP2K1_chr15_66381912_66496544	66420715	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA20129.hp2 NA18995.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0029 a0001c0001t0004g0020 a0001c0001t0004g0029	2	355	0.0056	46	c.81- others(63): Show c.81-14305_81-14304insATATATATATATATATATATATATATAT ATATATATATGTATATAT	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar

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