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
LAMP5_chr20_9509590_9535524	9517621	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02523.hp2 HG02572.hp1 others(2): Show HG00673.hp1 HG02523.hp2 HG02572.hp1 NA18906.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0053 a0002c0002t0002g0311 a0002c0002t0002g0341 others(1): Show a0002c0002t0002g0053 a0002c0002t0002g0311 a0002c0002t0002g0341 a0002c0002t0002g0342	5	448	0.0112	28	c.476 others(43): Show c.476-404_476-403insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	LAMP5	ENSG00000125869.10	transcript	ENST00000246070.3	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
LAP3_chr4_17572198_17612970	17573730	G G	GTGTGTGT others(21): Show GTGTGTGTGTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0191 a0001c0002t0002g0191	1	300	0.0033	28	c.-37 others(39): Show c.-3736_-3735insTGTGTGTGTATATATATATATATATATA	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding		3467		chr4	TogoVar
LAP3_chr4_17572198_17612970	17580184	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0212 a0001c0005t0003g0212	1	300	0.0033	28	c.218 others(43): Show c.218+246_218+247insATATATATATATATATATATATATATGT	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
LAPTM4A_chr2_20027650_20056628	20047696	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp1 HG03453.hp1 others(1): Show HG02280.hp2 HG02622.hp1 HG03453.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	4	424	0.0094	28	c.111 others(45): Show c.111+3713_111+3714insCTTTTTTTTTTTTTTTTTTTTTTTTTTT	LAPTM4A	ENSG00000068697.7	transcript	ENST00000175091.5	protein_coding	1/6			chr2	TogoVar
LAPTM4A_chr2_20027650_20056628	20047696	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAGAAAAAAG	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA19000.hp2 NA18989.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0124 a0001c0002t0001g0125	2	424	0.0047	28	c.111 others(45): Show c.111+3713_111+3714insCTTTTTTCTTTTTTTTTTTTTTTTTTTT	LAPTM4A	ENSG00000068697.7	transcript	ENST00000175091.5	protein_coding	1/6			chr2	TogoVar
LAPTM4B_chr8_97770788_97858013	97834144	G G	GAAAAAAA others(21): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02129.hp1 HG02976.hp1 others(1): Show HG00280.hp2 HG02129.hp1 HG02976.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0002 a0001c0001t0023	a0001c0001t0002g0329 a0001c0001t0002g0366 a0001c0001t0002g0369 others(1): Show a0001c0001t0002g0329 a0001c0001t0002g0366 a0001c0001t0002g0369 a0001c0001t0023g0221	4	380	0.0105	28	c.603 others(45): Show c.603+9005_603+9006insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LARGE1_chr22_33267509_33925476	33556560	G G	GAGGGAGG others(21): Show GAGGGAGGGAGGGAGGGAGGGAAGGAGGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02723.hp1 HG01243.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0007 a0001c0006t0029 a0001c0001t0007 a0001c0006t0029	a0001c0001t0007g0066 a0001c0006t0029g0108 a0001c0001t0007g0066 a0001c0006t0029g0108	2	110	0.0182	28	c.787 others(45): Show c.787+8287_787+8288insTCCTCCTTCCCTCCCTCCCTCCCTCCCT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	6/14			chr22	TogoVar
LARP1B_chr4_128056312_128216988	128098747	G G	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01943.hp1 HG03704.hp2 others(1): Show HG01109.hp2 HG01943.hp1 HG03704.hp2 NA18980.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0164 a0001c0001t0001g0186 a0001c0001t0001g0187 others(1): Show a0001c0001t0001g0164 a0001c0001t0001g0186 a0001c0001t0001g0187 a0003c0004t0001g0172	4	336	0.0119	28	c.813 others(43): Show c.813+418_813+419insGTGTATATATATATATATATATATATAT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128098747	G G	GTGTGTGT others(21): Show GTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0009 a0006c0007t0009	a0006c0007t0009g0192 a0006c0007t0009g0192	1	336	0.0030	28	c.813 others(43): Show c.813+418_813+419insGTGTGTATATATATATATATATATATAT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128098747	G G	GTGTGTGT others(21): Show GTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	336	0.0030	28	c.813 others(43): Show c.813+418_813+419insGTGTGTGTATATATATATATATATATAT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128098747	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18989.hp1 NA18983.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0271 a0001c0001t0001g0108 a0001c0001t0001g0271	2	336	0.0060	28	c.813 others(43): Show c.813+418_813+419insGTGTGTGTGTGTATATATATATATATAT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128110676	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG02074.hp2 others(18): Show HG00639.hp1 HG00735.hp2 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02155.hp2 HG02300.hp2 HG02523.hp2 NA18949.hp1 NA18950.hp2 NA18959.hp2 NA18962.hp2 NA18973.hp2 NA18974.hp2 NA18980.hp2 NA18986.hp1 NA18990.hp1 NA19000.hp2 NA19011.hp1 NA19054.hp2 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0008 a0002c0002t0011 others(1): Show a0002c0002t0002 a0002c0002t0008 a0002c0002t0011 a0002c0002t0012	a0002c0002t0002g0032 a0002c0002t0002g0040 a0002c0002t0002g0043 others(18): Show a0002c0002t0002g0032 a0002c0002t0002g0040 a0002c0002t0002g0043 a0002c0002t0002g0046 a0002c0002t0002g0057 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0086 a0002c0002t0002g0116 a0002c0002t0002g0289 a0002c0002t0002g0292 a0002c0002t0002g0295 a0002c0002t0002g0299 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0306 a0002c0002t0002g0330 a0002c0002t0002g0334 a0002c0002t0008g0300 a0002c0002t0011g0042 a0002c0002t0012g0065	21	336	0.0625	28	c.988 others(45): Show c.988+3380_988+3381insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128129164	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0017	1	336	0.0030	28	c.152 others(47): Show c.1524+6989_1524+7016dupAAAAAAAAAAAAAAAAAAAAAAAAAA AA	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1_chr5_154750377_154822605	154796121	T T	TTATATAT others(21): Show TTATATATATTTTATATATTTATATATTA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01243.hp2 HG01891.hp2 others(27): Show HG00558.hp1 HG01243.hp2 HG01891.hp2 HG01952.hp2 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02451.hp2 HG02486.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02895.hp2 HG02965.hp1 HG02976.hp2 HG03516.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18956.hp2 NA18962.hp1 NA18964.hp1 NA18982.hp1 NA19002.hp2 NA19011.hp2 NA19075.hp2 NA19087.hp1 NA19240.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0021 a0001c0003t0002	a0001c0001t0001g0004 a0001c0001t0001g0127 a0001c0001t0002g0111 others(26): Show a0001c0001t0001g0004 a0001c0001t0001g0127 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0003g0019 a0001c0001t0007g0106 a0001c0001t0007g0107 a0001c0001t0007g0122 a0001c0001t0007g0124 a0001c0001t0007g0125 a0001c0001t0007g0126 a0001c0001t0007g0128 a0001c0001t0009g0109 a0001c0001t0009g0117 a0001c0001t0009g0118 a0001c0001t0011g0136 a0001c0001t0017g0119 a0001c0001t0017g0123 a0001c0001t0021g0121 a0001c0003t0002g0014 a0001c0003t0002g0015 a0001c0003t0002g0036 a0001c0003t0002g0048 a0001c0003t0002g0049 a0001c0003t0002g0108 a0001c0003t0002g0110 a0001c0003t0002g0112 a0001c0003t0002g0113 a0001c0003t0002g0114	30	304	0.0987	28	c.137 others(45): Show c.1377+817_1377+844dupATATTTATATATTATATATATATTTTAT	LARP1	ENSG00000155506.19	transcript	ENST00000518297.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
LARP4_chr12_50395885_50485004	50446409	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0288 a0002c0002t0001g0288	1	318	0.0031	28	c.804 others(45): Show c.804+4787_804+4788insATATATATATATATATATATATATATAT	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446429	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0010 a0001c0005t0001g0010	1	318	0.0031	28	c.804 others(45): Show c.804+4787_804+4788insATATATATATATATATATATATATATTT	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP7_chr4_112632143_112662586	112647855	C C	CTGTCATT others(21): Show CTGTCATTGGCTTAACAATCCATCACCAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp2 HG02886.hp2 others(4): Show HG02572.hp2 HG02809.hp2 HG02886.hp2 HG02970.hp1 HG03225.hp2 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0037 a0001c0001t0001g0103 a0001c0001t0001g0104 others(3): Show a0001c0001t0001g0037 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0007t0001g0106	7	420	0.0167	28	c.114 others(43): Show c.1142+24_1142+51dupTCATTGGCTTAACAATCCATCACCATTG	LARP7	ENSG00000174720.18	transcript	ENST00000344442.10	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARS2_chr3_45383576_45554407	45484628	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0009 a0001c0005t0001g0009	1	242	0.0041	28	c.101 others(47): Show c.1019-1063_1019-1062insTATATATATATATATATATATATATA TA	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
LARS2_chr3_45383576_45554407	45484630	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03139.hp1 HG03225.hp1 HG02451.hp1 HG03139.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0079 a0001c0003t0002g0089 a0001c0003t0002g0237 a0001c0003t0002g0079 a0001c0003t0002g0089 a0001c0003t0002g0237	3	242	0.0124	28	c.101 others(47): Show c.1019-1061_1019-1060insAAAATATATATATATATATATATATA TA	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
LARS2_chr3_45383576_45554407	45484630	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18971.hp1 NA19075.hp1 HG00423.hp1 NA18971.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0093 a0001c0001t0003g0161 a0001c0001t0007g0103 a0001c0001t0001g0093 a0001c0001t0003g0161 a0001c0001t0007g0103	3	242	0.0124	28	c.101 others(47): Show c.1019-1061_1019-1060insAATATATATATATATATATATATATA TA	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
LARS2_chr3_45383576_45554407	45484630	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0157 a0001c0001t0003g0157	1	242	0.0041	28	c.101 others(47): Show c.1019-1044_1019-1043insATATATATATATATATATATATATAT AT	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
LASP1_chr17_38865058_38926770	38875069	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0032 a0001c0001t0008g0032	1	396	0.0025	28	c.70- others(43): Show c.70-2997_70-2996insTGTGTGTATGTGTGTGTGTGTGTGTGTG	LASP1	ENSG00000002834.19	transcript	ENST00000318008.11	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
LAT2_chr7_74205006_74234834	74214045	T T	TATATATA others(21): Show TATATATATATATGAAAAAATATATATAA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	344	0.0029	28	c.-21 others(45): Show c.-218-738_-218-711dupATGAAAAAATATATATAAATATATATAT	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LAT2_chr7_74205006_74234834	74214776	A A	AATATATA others(21): Show AATATATATATAAACATATATATATAAAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	344	0.0029	28	c.-21 others(43): Show c.-218-35_-218-34insAACATATATATATAAATATATATATATA	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LATS2_chr13_20968036_21066586	21007630	A A	ATATATAG others(21): Show ATATATAGTGTATATATATATATATAGTG	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0061 a0001c0010t0001g0061	1	316	0.0032	28	c.343 others(47): Show c.343-16227_343-16226insCACTATATATATATATATACACTATA TA	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LATS2_chr13_20968036_21066586	21007632	A A	ATATATAG others(21): Show ATATATAGTGTGTATATATATATAGTGTG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	316	0.0032	28	c.343 others(47): Show c.343-16229_343-16228insCACACTATATATATATACACACTATA TA	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LATS2_chr13_20968036_21066586	21050125	C C	CAGACAGA others(21): Show CAGACAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02970.hp2 HG03209.hp2 others(2): Show HG01433.hp2 HG02970.hp2 HG03209.hp2 HG03225.hp2 HG03540.hp1	a0003 a0004 a0003 a0004	a0003c0008 a0004c0004 a0004c0035 a0003c0008 a0004c0004 a0004c0035	a0003c0008t0008 a0003c0008t0009 a0004c0004t0030 others(1): Show a0003c0008t0008 a0003c0008t0009 a0004c0004t0030 a0004c0035t0009	a0003c0008t0008g0293 a0003c0008t0009g0294 a0003c0008t0009g0296 others(2): Show a0003c0008t0008g0293 a0003c0008t0009g0294 a0003c0008t0009g0296 a0004c0004t0030g0295 a0004c0035t0009g0297	5	316	0.0158	28	c.-20 others(47): Show c.-204-3896_-204-3895insATCTATCTATCTATCTATCTATCTGT CT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	1/7			chr13	TogoVar
LAX1_chr1_203760183_203781372	203770433	A A	AAGAGAGA others(21): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01981.hp1 HG04199.hp2 others(2): Show HG01496.hp2 HG01981.hp1 HG04199.hp2 NA18959.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0023 a0001c0001t0001 a0001c0001t0009 a0001c0001t0023	a0001c0001t0001g0040 a0001c0001t0001g0124 a0001c0001t0001g0275 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0124 a0001c0001t0001g0275 a0001c0001t0009g0187 a0001c0001t0023g0278	5	422	0.0119	28	c.90- others(41): Show c.90-374_90-373insGAGAGAGAGAGAGAGAGAGAGAGAGAGA	LAX1	ENSG00000122188.13	transcript	ENST00000442561.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAX1_chr1_203760183_203781372	203770454	A A	AGAGAGAG others(21): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	422	0.0024	28	c.90- others(41): Show c.90-374_90-373insGAGAGAGAGAGAGAGAGAGAGAGAGAGG	LAX1	ENSG00000122188.13	transcript	ENST00000442561.7	protein_coding	1/4			chr1	TogoVar
LBHD2_chr14_103079210_103095027	103083520	T T	TCCCCCCC others(21): Show TCCCCCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	432	0.0023	28	c.-86 others(37): Show c.-865_-864insCCCCCCCCCCCCCCCCCCCCCCCCCCCC	LBHD2	ENSG00000283071.1	transcript	ENST00000634353.1	protein_coding		689		chr14	TogoVar
LCA5L_chr21_39400728_39450778	39428578	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(5): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG01981.hp1 HG03710.hp1 NA18991.hp1 NA19054.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0001g0055 others(5): Show a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0001g0055 a0001c0001t0001g0070 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0135 a0001c0001t0001g0145	8	340	0.0235	28	c.-10 others(41): Show c.-10-76_-10-75insTATATATATATATATATATATATATATA	LCA5L	ENSG00000157578.14	transcript	ENST00000288350.8	protein_coding	4/10			chr21	TogoVar
LCA5L_chr21_39400728_39450778	39428598	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01109.hp2 HG02257.hp1 others(1): Show HG01071.hp1 HG01109.hp2 HG02257.hp1 NA18967.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0001 a0003c0010t0001 a0001c0001t0001 a0003c0010t0001	a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0095 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0095 a0003c0010t0001g0056	4	340	0.0118	28	c.-10 others(41): Show c.-10-96_-10-95insAATATATATATATATATATATATATATA	LCA5L	ENSG00000157578.14	transcript	ENST00000288350.8	protein_coding	4/10			chr21	TogoVar
LCLAT1_chr2_30442246_30649225	30461770	C C	CCTTTTTT others(21): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0065 a0002c0002t0015g0065	1	366	0.0027	28	c.-5+ others(45): Show c.-5+14387_-5+14388insCTTTTTTTTTTTTTTTTTTTTTTTTTTT	LCLAT1	ENSG00000172954.14	transcript	ENST00000379509.8	protein_coding	1/5			chr2	TogoVar
LCMT1_chr16_25106742_25183228	25179975	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG03017.hp2 HG02258.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0271 a0001c0001t0002g0039 a0001c0001t0001g0271 a0001c0001t0002g0039	2	348	0.0058	28	c.19 others(39): Show c.1952_*1953insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	LCMT1	ENSG00000205629.12	transcript	ENST00000399069.8	protein_coding		1748		chr16	TogoVar
LCMT2_chr15_43318649_43335573	43334633	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00673.hp1 others(15): Show HG00099.hp2 HG00423.hp2 HG00673.hp1 HG01071.hp2 HG01074.hp1 HG01257.hp2 HG02129.hp2 HG03490.hp2 NA18941.hp2 NA18955.hp2 NA18957.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA19072.hp1 NA19077.hp2 NA19078.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0020 a0001c0001t0023	a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(5): Show a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0008g0000 a0001c0001t0012g0000 a0001c0001t0015g0000 a0001c0001t0020g0000 a0001c0001t0023g0000	18	410	0.0439	28	c.-41 others(39): Show c.-4172_-4145dupTATATATATATATATATATATATATATA	LCMT2	ENSG00000168806.8	transcript	ENST00000305641.7	protein_coding		4061		chr15	TogoVar
LCN15_chr9_136754634_136769518	136769279	G G	GCCCCCCC others(21): Show GCCCCCCCGCCACCCCCCCCATGCACTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	356	0.0028	28	c.-47 others(39): Show c.-4792_-4791insGCAGTGCATGGGGGGGGTGGCGGGGGGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4762		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769338	G G	GCCCCCCC others(21): Show GCCCCCCCCGCCACCCCCCCATGCACTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	356	0.0028	28	c.-48 others(39): Show c.-4851_-4850insGCAGTGCATGGGGGGGTGGCGGGGGGGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4821		chr9	TogoVar
LCORL_chr4_17836187_18026755	17940134	G G	GTGTATAT others(21): Show GTGTATATATATGTATATATATGTATACA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0030 a0004c0005t0030	a0004c0005t0030g0290 a0004c0005t0030g0290	1	292	0.0034	28	c.430 others(47): Show c.430+21768_430+21769insTGTATACATATATATACATATATATA CA	LCORL	ENSG00000178177.17	transcript	ENST00000635767.2	protein_coding	4/7			chr4	TogoVar
LCORL_chr4_17836187_18026755	17943601	T T	TATTTCAC others(21): Show TATTTCACCACTGATATGCGCTGCAAAGA	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	292	0.0034	28	c.430 others(47): Show c.430+18274_430+18301dupTCTTTGCAGCGCATATCAGTGGTGAA AT	LCORL	ENSG00000178177.17	transcript	ENST00000635767.2	protein_coding	4/7			chr4	TogoVar
LCOR_chr10_96827298_97000956	96912607	T T	TCTTCCTT others(21): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG02109.hp2 others(3): Show HG01070.hp2 HG01071.hp1 HG02109.hp2 HG02559.hp2 NA18522.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0018 a0001c0001t0038 a0001c0001t0076 others(3): Show a0001c0001t0018 a0001c0001t0038 a0001c0001t0076 a0001c0001t0098 a0001c0001t0142 a0001c0004t0010	a0001c0001t0018g0151 a0001c0001t0038g0059 a0001c0001t0076g0149 others(3): Show a0001c0001t0018g0151 a0001c0001t0038g0059 a0001c0001t0076g0149 a0001c0001t0098g0010 a0001c0001t0142g0061 a0001c0004t0010g0044	6	288	0.0208	28	c.-18 others(47): Show c.-184+4872_-184+4899dupCCTTCCTTCCTTCCTTCCTTCCTTCC TT	LCOR	ENSG00000196233.14	transcript	ENST00000421806.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
LCOR_chr10_96827298_97000956	96920461	C C	CATATATG others(21): Show CATATATGTGTATATATATGTATATTCAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp1 HG00741.hp2 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0144 a0001c0001t0081 a0001c0001t0144	a0001c0001t0081g0231 a0001c0001t0144g0257 a0001c0001t0081g0231 a0001c0001t0144g0257	2	288	0.0069	28	c.-18 others(49): Show c.-184+12731_-184+12758dupATGTATATTCATATATATGTGTAT ATAT	LCOR	ENSG00000196233.14	transcript	ENST00000421806.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
LCOR_chr10_96827298_97000956	96920549	T T	TATATATG others(21): Show TATATATGTGTATATATGTATGTATATTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA20300.hp2 HG01884.hp1 NA20300.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0080 a0007c0013t0141 a0007c0013t0080 a0007c0013t0141	a0007c0013t0080g0174 a0007c0013t0141g0175 a0007c0013t0080g0174 a0007c0013t0141g0175	2	288	0.0069	28	c.-18 others(49): Show c.-184+12809_-184+12836dupGTGTATATATGTATGTATATTCAT ATAT	LCOR	ENSG00000196233.14	transcript	ENST00000421806.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
LCP2_chr5_170241233_170302777	170289643	T T	TTCTTTCT others(21): Show TTCTTTCTTTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0287 a0001c0002t0008g0287	1	384	0.0026	28	c.142 others(45): Show c.142-1628_142-1627insGAGAGAGAGAGAGAGAGAGAAAGAAAGA	LCP2	ENSG00000043462.13	transcript	ENST00000046794.10	protein_coding	2/20			chr5	TogoVar
LCP2_chr5_170241233_170302777	170289662	T T	TCTCTCTC others(21): Show TCTCTCTCTCTCTCTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	384	0.0026	28	c.142 others(45): Show c.142-1647_142-1646insGGAAAGAAAGAAAGAGAGAGAGAGAGAG	LCP2	ENSG00000043462.13	transcript	ENST00000046794.10	protein_coding	2/20			chr5	TogoVar
LCP2_chr5_170241233_170302777	170291199	C C	CAGGAAGG others(21): Show CAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp2 HG02280.hp1 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0024 a0001c0004t0004 a0001c0004t0024	a0001c0004t0004g0121 a0001c0004t0024g0331 a0001c0004t0004g0121 a0001c0004t0024g0331	2	384	0.0052	28	c.141 others(45): Show c.141+2110_141+2111insTCCTTCCTTCCTTCCTTCCTTCCTTCCT	LCP2	ENSG00000043462.13	transcript	ENST00000046794.10	protein_coding	2/20			chr5	TogoVar
LCTL_chr15_66542532_66570998	66544724	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0227 a0007c0010t0001g0227	1	434	0.0023	28	c.37 others(39): Show c.3738_*3765dupCACACACACACACACACACACACACACA	LCTL	ENSG00000188501.12	transcript	ENST00000695545.1	protein_coding		2807		chr15	TogoVar
LCTL_chr15_66542532_66570998	66544724	T T	TTTTTTTT others(21): Show TTTTTTTTTTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19077.hp1 NA19074.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0117 a0001c0001t0001g0118	2	434	0.0046	28	c.37 others(39): Show c.3765_*3766insCACACACACACACACACACAAAAAAAAA	LCTL	ENSG00000188501.12	transcript	ENST00000695545.1	protein_coding		2807		chr15	TogoVar
LDAF1_chr16_21153674_21185616	21156996	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	390	0.0026	28	c.-18 others(39): Show c.-1849_-1848insACACACACACACACACACACACACACAC	LDAF1	ENSG00000011638.11	transcript	ENST00000233047.9	protein_coding		1677		chr16	TogoVar
LDAH_chr2_20679031_20828101	20716720	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02071.hp1 HG03471.hp2 others(5): Show HG01070.hp2 HG02071.hp1 HG03471.hp2 HG03927.hp1 NA18977.hp1 NA19003.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0190 a0001c0001t0003g0167 a0001c0001t0005g0017 others(5): Show a0001c0001t0001g0190 a0001c0001t0003g0167 a0001c0001t0005g0017 a0001c0001t0005g0046 a0001c0001t0005g0077 a0001c0001t0005g0119 a0001c0001t0005g0216 a0001c0001t0006g0242	8	258	0.0310	28	c.704 others(47): Show c.704-15069_704-15068insTATATATATATATATATATATATATA TA	LDAH	ENSG00000118961.15	transcript	ENST00000237822.8	protein_coding	5/6			chr2	TogoVar
LDB2_chr4_16496541_16903645	16659671	G G	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp1 HG02965.hp1 others(2): Show HG02647.hp1 HG02809.hp1 HG02965.hp1 NA18970.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0009 a0001c0001t0001g0034 a0001c0001t0001g0106 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0034 a0001c0001t0001g0106 a0001c0001t0002g0107 a0001c0001t0004g0038	5	162	0.0309	28	c.236 others(47): Show c.236-63797_236-63796insTATATATATATATATATATATATACA CA	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	2/7			chr4	TogoVar

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