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
LMTK2_chr7_98101862_98214638	98140149	T T	TTCTGTCT others(40): Show TTCTGTCTGTCTGTCCGTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0218 a0001c0018t0002g0218	1	296	0.0034	47	c.232 others(64): Show c.232-1247_232-1246insCTGTCTGTCTGTCCGTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCT	LMTK2	ENSG00000164715.6	transcript	ENST00000297293.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LMTK2_chr7_98101862_98214638	98140149	T T	TTCTGTCT others(40): Show TTCTGTCTGTCTGTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03710.hp2 HG03942.hp1 others(2): Show HG03209.hp1 HG03710.hp2 HG03942.hp1 NA18953.hp1 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0011 a0007c0014 a0001c0001 a0001c0011 a0007c0014	a0001c0001t0002 a0001c0001t0054 a0001c0011t0002 others(1): Show a0001c0001t0002 a0001c0001t0054 a0001c0011t0002 a0007c0014t0001	a0001c0001t0002g0304 a0001c0001t0002g0308 a0001c0001t0054g0253 others(2): Show a0001c0001t0002g0304 a0001c0001t0002g0308 a0001c0001t0054g0253 a0001c0011t0002g0305 a0007c0014t0001g0222	5	300	0.0167	47	c.232 others(64): Show c.232-1247_232-1246insCTGTCTGTCTGTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCT	LMTK2	ENSG00000164715.6	transcript	ENST00000297293.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LOC114841035_chr11_64236095_64249132	64237126	G G	GAGAGAGA others(40): Show GAGAGAGAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAGACAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 NA18962.hp1 HG00673.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	230	0.0087	47	c.-41 others(58): Show c.-4154_-4153insAGAGAGAGAGAGAGAGAGAGAGAGACAGAGACAG ACAGAGACAGACA	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3968		chr11	TogoVar
LOC114841035_chr11_64236095_64249132	64237126	G G	GAGAGAGA others(40): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	229	0.0044	47	c.-41 others(58): Show c.-4154_-4153insAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGAG AGAGACAGAGACA	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3968		chr11	TogoVar
LOC128125818_chr4_6059977_6075162	6067579	G G	GCACTCAA others(40): Show GCACTCAAGCTCTTCTGCACACACAGGTCACCCCCTGAGCTCCAGGTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18940.hp1 NA18941.hp2 others(5): Show HG02523.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18990.hp2 NA18998.hp1 NA19075.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0079 a0001c0001t0001g0169 a0001c0001t0001g0014 a0001c0001t0001g0079 a0001c0001t0001g0169	8	363	0.0220	47	c.106 others(64): Show c.106+2477_106+2478insAACCTGGAGCTCAGGGGGTGACCTGTGT GTGCAGAAGAGCTTGAGTG	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
LOC128462377_chr16_89312046_89423292	89390139	C C	CAGAGAAG others(40): Show CAGAGAAGATCACTGGGGCGAACACCGAGTGTGGCGGGGAGCACCGAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp1 HG03130.hp2 others(2): Show HG02723.hp2 HG02896.hp1 HG03130.hp2 HG03486.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 others(2): Show a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366	5	365	0.0137	47	c.9+2 others(62): Show c.9+28098_9+28144dupCTCGGTGCTCCCCGCCACACTCGGTGTTCG CCCCAGTGATCTTCTCT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC400499_chr16_11367015_11532247	11499173	G G	GAAGGGAG others(40): Show GAAGGGAGGCAGAGGGGAGGGGGGAAGGGAGGCAGAGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02040.hp1 HG02559.hp1 others(2): Show HG02015.hp2 HG02040.hp1 HG02559.hp1 NA18971.hp2 NA19009.hp2	a0003 a0021 a0022 others(1): Show a0003 a0021 a0022 a0116	a0003c0002 a0021c0018 a0022c0156 others(1): Show a0003c0002 a0021c0018 a0022c0156 a0116c0122	a0003c0002t0001 a0021c0018t0002 a0022c0156t0003 others(1): Show a0003c0002t0001 a0021c0018t0002 a0022c0156t0003 a0116c0122t0004	a0003c0002t0001g0073 a0003c0002t0001g0210 a0021c0018t0002g0078 others(2): Show a0003c0002t0001g0073 a0003c0002t0001g0210 a0021c0018t0002g0078 a0022c0156t0003g0269 a0116c0122t0004g0307	5	214	0.0234	47	c.124 others(66): Show c.1245+1630_1245+1631insTCCCCCCTCCCCTCTGCCTCCCTTCC CCCCTCCCCTCTGCCTCCCTT	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	10/66			chr16	TogoVar
LPA_chr6_160526482_160669275	160654056	T T	TATTATAT others(40): Show TATTATATATTATATATAATATATATAATATATATTATATATAATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0046 a0002c0012t0002g0046	1	116	0.0086	47	c.50- others(62): Show c.50-3560_50-3559insTATATTATATATAATATATATTATATATAT TATATATAATATATAAT	LPA	ENSG00000198670.13	transcript	ENST00000316300.10	protein_coding	1/38			chr6	TogoVar
LPIN1_chr2_11741632_11832409	11759769	G G	GCCCCCCA others(40): Show GCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	276	0.0036	47	c.-9- others(62): Show c.-9-5717_-9-5671dupACCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGCTG	LPIN1	ENSG00000134324.12	transcript	ENST00000674199.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
LPIN2_chr18_2911999_3018144	2958141	C C	CAAAAAAA others(40): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0292 a0001c0001t0021g0292	1	137	0.0073	47	c.192 others(64): Show c.192+2507_192+2508insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	LPIN2	ENSG00000101577.11	transcript	ENST00000677752.1	protein_coding	2/19			chr18	TogoVar
LPP_chr3_188149157_188895671	188893038	A A	ATATATAT others(40): Show ATATATATATATACATTATATATATATACATTATATATATATATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0013	a0002c0004t0013g0049 a0002c0004t0013g0049	1	74	0.0135	47	c.18 others(60): Show c.18559_*18560insTATATATATATACATTATATATATATACATTA TATATATATATACAT	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding		2368		chr3	TogoVar
LRBA_chr4_150259435_151020284	150648158	C C	CAAAAAAA others(40): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0159 a0001c0005t0002g0159	1	33	0.0303	47	c.592 others(68): Show c.5921+35392_5921+35393insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTT	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150658707	C C	CCCTCTCC others(40): Show CCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCCTCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	178	0.0056	47	c.592 others(68): Show c.5921+24843_5921+24844insAGAGGGAGAGGGAGGAGGGAGAGG GAGAGGAGAGGGAGAGGGAGAGG	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
LRBA_chr4_150259435_151020284	150805325	A A	AAAGGAAA others(40): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAGAAGGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG03225.hp1 HG02055.hp2 HG02109.hp2 HG03225.hp1	a0006 a0010 a0006 a0010	a0006c0008 a0010c0018 a0006c0008 a0010c0018	a0006c0008t0001 a0006c0008t0002 a0010c0018t0002 a0006c0008t0001 a0006c0008t0002 a0010c0018t0002	a0006c0008t0001g0116 a0006c0008t0002g0113 a0010c0018t0002g0126 a0006c0008t0001g0116 a0006c0008t0002g0113 a0010c0018t0002g0126	3	175	0.0171	47	c.551 others(64): Show c.5518+945_5518+946insCTCCTTCTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTT	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	33/56			chr4	TogoVar
LRFN3_chr19_35931374_35951624	35947607	T T	TGTGTGTG others(40): Show TGTGTGTGTGTGTGTGTTCCCATGAGGGGGAGCCAGAGGGCACTGTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0025 a0001c0002t0003g0025	1	388	0.0026	47	c.25 others(58): Show c.2588_*2589insGTGTGTGTGTGTGTGTTCCCATGAGGGGGAGCCA GAGGGCACTGTTC	LRFN3	ENSG00000126243.9	transcript	ENST00000246529.4	protein_coding		984		chr19	TogoVar
LRGUK_chr7_134122340_134269595	134129064	T T	TCTCTTTC others(40): Show TCTCTTTCTTTCTTTCTCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02976.hp1 HG03540.hp1 others(1): Show HG02280.hp2 HG02976.hp1 HG03540.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0003 a0001c0001t0001 a0001c0008t0003	a0001c0001t0001g0013 a0001c0008t0003g0010 a0001c0008t0003g0011 others(1): Show a0001c0001t0001g0013 a0001c0008t0003g0010 a0001c0008t0003g0011 a0001c0008t0003g0012	4	218	0.0183	47	c.297 others(64): Show c.297+1430_297+1431insCCTCCCTCCCTCCCTTCCTCTTTCTTTC TTTCTCCTTCCTTCCTTCC	LRGUK	ENSG00000155530.4	transcript	ENST00000285928.3	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
LRIT3_chr4_109843107_109877315	109850418	C C	CTTTCTTT others(40): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA19060.hp2 HG02970.hp2 NA19060.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0003 a0001c0002 a0003c0003	a0001c0002t0003 a0003c0003t0004 a0001c0002t0003 a0003c0003t0004	a0001c0002t0003g0008 a0003c0003t0004g0072 a0001c0002t0003g0008 a0003c0003t0004g0072	2	248	0.0081	47	c.117 others(64): Show c.117-1086_117-1085insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTT	LRIT3	ENSG00000183423.12	transcript	ENST00000594814.6	protein_coding	1/3			chr4	TogoVar
LRIT3_chr4_109843107_109877315	109850422	C C	CCTTCCTT others(40): Show CCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	17	0.0588	47	c.117 others(64): Show c.117-1079_117-1078insCCTTCCTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	LRIT3	ENSG00000183423.12	transcript	ENST00000594814.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
LRIT3_chr4_109843107_109877315	109850422	C C	CCTTCCTT others(40): Show CCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03831.hp1 NA18947.hp1 others(2): Show HG03017.hp2 HG03831.hp1 NA18947.hp1 NA18965.hp1 NA18982.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0001 a0004c0005t0006 a0001c0002t0001 a0004c0005t0006	a0001c0002t0001g0001 a0001c0002t0001g0009 a0004c0005t0006g0005 a0001c0002t0001g0001 a0001c0002t0001g0009 a0004c0005t0006g0005	5	21	0.2381	47	c.117 others(64): Show c.117-1079_117-1078insCCTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	LRIT3	ENSG00000183423.12	transcript	ENST00000594814.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
LRIT3_chr4_109843107_109877315	109850422	C C	CCTTCTTT others(40): Show CCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0005 a0006c0010t0005	a0006c0010t0005g0019 a0006c0010t0005g0019	1	17	0.0588	47	c.117 others(64): Show c.117-1079_117-1078insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	LRIT3	ENSG00000183423.12	transcript	ENST00000594814.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
LRIT3_chr4_109843107_109877315	109850422	C C	CTTTCTTT others(40): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02559.hp2 HG02015.hp1 HG02559.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0010 a0002c0001t0019 a0001c0004t0010 a0002c0001t0019	a0001c0004t0010g0025 a0002c0001t0019g0003 a0001c0004t0010g0025 a0002c0001t0019g0003	2	18	0.1111	47	c.117 others(64): Show c.117-1082_117-1081insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTT	LRIT3	ENSG00000183423.12	transcript	ENST00000594814.6	protein_coding	1/3			chr4	TogoVar
LRP11_chr6_149813757_149869359	149859396	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	162	0.0062	47	c.613 others(64): Show c.613+4011_613+4012insAAAAAAATATATATATATATATATATAT ATATATATATATATATATA	LRP11	ENSG00000120256.11	transcript	ENST00000239367.7	protein_coding	1/6			chr6	TogoVar
LRRC71_chr1_156915632_156938094	156928363	C C	CTCTCTTC others(40): Show CTCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0051 a0003c0004t0001g0051	1	55	0.0182	47	c.996 others(62): Show c.996+362_996+363insCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCT	LRRC71	ENSG00000160838.14	transcript	ENST00000337428.8	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
LRRK1_chr15_100914357_101083257	100962823	A A	ATACATAT others(40): Show ATACATATATATATATATACATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG04228.hp1 HG00642.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0018 a0001c0002 a0002c0018	a0001c0002t0171 a0002c0018t0024 a0001c0002t0171 a0002c0018t0024	a0001c0002t0171g0224 a0002c0018t0024g0212 a0001c0002t0171g0224 a0002c0018t0024g0212	2	82	0.0244	47	c.98- others(64): Show c.98-10980_98-10979insACATATATATATATATACATATATATAT ATATATATATTTTTTTTTT	LRRK1	ENSG00000154237.13	transcript	ENST00000388948.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr15	TogoVar
LRRK1_chr15_100914357_101083257	100962823	A A	ATACATAT others(40): Show ATACATATATATATATATATACATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0005 a0005	a0005c0106 a0005c0106	a0005c0106t0141 a0005c0106t0141	a0005c0106t0141g0315 a0005c0106t0141g0315	1	81	0.0123	47	c.98- others(64): Show c.98-10980_98-10979insACATATATATATATATATACATATATAT ATATATATATATTTTTTTT	LRRK1	ENSG00000154237.13	transcript	ENST00000388948.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr15	TogoVar
LRRK1_chr15_100914357_101083257	101079864	G G	GGACCTAA others(40): Show GGACCTAAGAACCATGGATTGGAGCGTTGTGTGCCAGGCGTGCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0118 a0002c0001t0118	a0002c0001t0118g0041 a0002c0001t0118g0041	1	336	0.0030	47	c.11 others(60): Show c.11016_*11017insGACCTAAGAACCATGGATTGGAGCGTTGTGTG CCAGGCGTGCCCCCT	LRRK1	ENSG00000154237.13	transcript	ENST00000388948.8	protein_coding		1608		chr15	TogoVar
LUC7L2_chr7_139354894_139428454	139424850	G G	GTTTTTTT others(40): Show GTTTTTTTTTTTTTTTTTTTTGTTTTTTGTTTTTTTTTTGTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	253	0.0040	47	c.25 others(58): Show c.2510_*2511insTTTTTTTTTTTTTTTTTTTTGTTTTTTGTTTTTT TTTTGTTTTTTTT	LUC7L2	ENSG00000146963.18	transcript	ENST00000354926.9	protein_coding		1397		chr7	TogoVar
LY86_chr6_6583720_6659982	6659110	C C	CCCAGACT others(40): Show CCCAGACTCCTTAGCGAGAGAACAGAAAGGGGCCACATCTGATGACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	422	0.0024	47	c.44 others(58): Show c.4483_*4484insCCAGACTCCTTAGCGAGAGAACAGAAAGGGGCCA CATCTGATGACAA	LY86	ENSG00000112799.9	transcript	ENST00000230568.5	protein_coding		4129		chr6	TogoVar
LYPLA1_chr8_54041367_54106947	54084133	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	258	0.0039	47	c.101 others(66): Show c.101+16774_101+16775insATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTTTTTTT	LYPLA1	ENSG00000120992.18	transcript	ENST00000316963.8	protein_coding	2/8			chr8	TogoVar
LYPLA1_chr8_54041367_54106947	54084133	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	258	0.0039	47	c.101 others(66): Show c.101+16774_101+16775insATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTT	LYPLA1	ENSG00000120992.18	transcript	ENST00000316963.8	protein_coding	2/8			chr8	TogoVar
LYRM4_chr6_5103419_5265950	5214953	C C	CGCCCTTG others(40): Show CGCCCTTGCCCTGCACATGCCACTGCTCCAGTGCGTCTGTCCTGGGAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01361.hp1 NA18972.hp1 others(2): Show HG01074.hp1 HG01361.hp1 NA18972.hp1 NA18983.hp2 NA18993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0216 a0002c0002t0006g0227 a0002c0002t0006g0228 others(2): Show a0002c0002t0006g0216 a0002c0002t0006g0227 a0002c0002t0006g0228 a0002c0002t0006g0233 a0002c0002t0006g0240	5	284	0.0176	47	c.207 others(64): Show c.207+1618_207+1664dupCTCCCAGGACAGACGCACTGGAGCAGTG GCATGTGCAGGGCAAGGGC	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
MACIR_chr5_103253763_103283660	103261638	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	177	0.0056	47	c.-11 others(66): Show c.-114+2744_-114+2745insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261658	C C	CTTTCTTT others(40): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	341	0.0029	47	c.-11 others(66): Show c.-114+2801_-114+2802insTCTTTTCTTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTT	MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAEA_chr4_1284891_1345137	1334088	A A	ATCCACCC others(40): Show ATCCACCCCCATGCCCACCGTGTGCTCACCCCTGTGCTCACCCCTGTG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA20300.hp2 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0245 a0001c0001t0004g0288 a0001c0001t0001g0245 a0001c0001t0004g0288	2	377	0.0053	47	c.765 others(64): Show c.765+1223_765+1224insTCCACCCCCATGCCCACCGTGTGCTCAC CCCTGTGCTCACCCCTGTG	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8			chr4	TogoVar
MAGI1_chr3_65348526_66043918	65610742	G G	GTATATAC others(40): Show GTATATACTATATACTATATATATATATATATATACTATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA20805.hp1 HG01361.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0077 a0002c0002t0001g0060 a0001c0001t0001g0077 a0002c0002t0001g0060	2	50	0.0400	47	c.430 others(66): Show c.430+11229_430+11230insTATATATATATAGTATATATATATAT ATATATAGTATATAGTATATA	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	2/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65610742	G G	GTATATAC others(40): Show GTATATACTATATACTATATATATATATATATATATACTATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0043 a0001c0005t0001g0043	1	49	0.0204	47	c.430 others(66): Show c.430+11229_430+11230insTATATATATAGTATATATATATATAT ATATATAGTATATAGTATATA	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	2/22			chr3	TogoVar
MAGI1_chr3_65348526_66043918	65610742	G G	GTATATAC others(40): Show GTATATACTATATACTATATATATATATATATATATATACTATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0012 a0004c0004t0012	a0004c0004t0012g0103 a0004c0004t0012g0103	1	49	0.0204	47	c.430 others(66): Show c.430+11229_430+11230insTATATATAGTATATATATATATATAT ATATATAGTATATAGTATATA	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	2/22			chr3	TogoVar
MAGOH_chr1_53221900_53243518	53237192	G G	GACCCGCC others(40): Show GACCCGCCCCCTCCGCCCGGCACCCTCCCCCCGCCCCCCCCCGGCACC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	436	0.0023	47	c.88+ others(62): Show c.88+1168_88+1169insGGTGCCGGGGGGGGGCGGGGGGAGGGTGCC GGGCGGAGGGGGCGGGT	MAGOH	ENSG00000162385.11	transcript	ENST00000371470.8	protein_coding	1/4			chr1	TogoVar
MAN1C1_chr1_25611791_25789450	25644518	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0155 a0001c0002t0003g0155	1	58	0.0172	47	c.540 others(66): Show c.540+26182_540+26183insATATATATATATATATATATATATAT ATATATATATATATTTTTTTT	MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP1LC3B2_chr12_116554381_116581606	116558665	C C	CAGAGACA others(40): Show CAGAGACAACGTGCCTTTAGGTGATAGAGCTAGGACTGGAACCCAAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0063 a0001c0001t0008g0063	1	444	0.0023	47	c.-87 others(56): Show c.-870_-869insAGAGACAACGTGCCTTTAGGTGATAGAGCTAGGACT GGAACCCAAGT	MAP1LC3B2	ENSG00000258102.5	transcript	ENST00000556529.4	protein_coding		715		chr12	TogoVar
MAP2K5_chr15_67537703_67812114	67575917	T T	TTTCTTTC others(40): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	136	0.0074	47	c.253 others(64): Show c.253-4835_253-4834insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP3K13_chr3_185358136_185494094	185455645	A A	ATATATAT others(40): Show ATATATATGAGATATATATATCATATATATGAGATATATGATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0032 a0001c0015t0032	a0001c0015t0032g0044 a0001c0015t0032g0044	1	198	0.0051	47	c.127 others(66): Show c.1278+4250_1278+4251insTATATATGAGATATATATATCATATA TATGAGATATATGATATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13			chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185455650	T T	TATCTCAT others(40): Show TATCTCATATATATGATATATATGAGATATATATATCATATATATGAG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0002 a0010c0017t0002	a0010c0017t0002g0011 a0010c0017t0002g0011	1	274	0.0036	47	c.127 others(66): Show c.1278+4257_1278+4258insCTCATATATATGATATATATGAGATA TATATATCATATATATGAGAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19474969	G G	GAAAAAAA others(40): Show GAAAAAAATTTTTCCACGGACCAGGTGGGCAGGGGCAGGGAGGATGGT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	160	0.0063	47	c.526 others(66): Show c.526-10610_526-10564dupACCATCCTCCCTGCCCCTGCCCACCT GGTCCGTGGAAAAATTTTTTT	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K8_chr10_30429184_30466833	30432976	G G	GAGAGAGA others(40): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 NA20129.hp2 HG00280.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0131 a0001c0002t0001g0128 a0001c0002t0001g0131	2	241	0.0083	47	c.-16 others(58): Show c.-1657_-1656insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGA	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1207		chr10	TogoVar
MAP3K8_chr10_30429184_30466833	30432978	G G	GAGAGAGA others(40): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA19074.hp2 NA18994.hp1 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0166 a0001c0002t0001g0158 a0001c0002t0001g0166	2	133	0.0150	47	c.-16 others(58): Show c.-1655_-1654insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGA	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1205		chr10	TogoVar
MAP4K4_chr2_101692707_101899690	101797889	G G	GTTTTTTT others(40): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	10	0.1000	47	c.180 others(64): Show c.180+7134_180+7135insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	3/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAPK11_chr22_50258713_50275380	50265879	A A	ACCCAGCC others(40): Show ACCCAGCCCACCCCCACTGCCCTGGCCAGGCACTGCTTGCTGGGGTCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG03041.hp2 others(2): Show HG01243.hp1 HG02258.hp2 HG03041.hp2 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0084 a0001c0001t0002g0018 a0001c0001t0002g0084	5	409	0.0122	47	c.763 others(62): Show c.763-266_763-220dupGGACCCCAGCAAGCAGTGCCTGGCCAGGGC AGTGGGGGTGGGCTGGG	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding	9/11			chr22	TogoVar
MAPK12_chr22_50247901_50266683	50265879	A A	ACCCAGCC others(40): Show ACCCAGCCCACCCCCACTGCCCTGGCCAGGCACTGCTTGCTGGGGTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02258.hp1 HG03041.hp1 others(2): Show HG01243.hp1 HG02258.hp1 HG03041.hp1 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0083 a0001c0001t0002g0015 a0001c0001t0002g0083	5	425	0.0118	47	c.-44 others(58): Show c.-4417_-4371dupGGACCCCAGCAAGCAGTGCCTGGCCAGGGCAGTG GGGGTGGGCTGGG	MAPK12	ENSG00000188130.14	transcript	ENST00000215659.13	protein_coding		4197		chr22	TogoVar
MAPKAP1_chr9_125432394_125712208	125624612	G G	GGGGGTTC others(40): Show GGGGGTTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0163 a0001c0002t0001g0163	1	298	0.0034	47	c.498 others(66): Show c.498+33038_498+33039insACCTCCCTCCTGGACGGGGCGGCTGG CCGGGCGGGGGGCTGAACCCC	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	4/11			chr9	TogoVar

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