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
LAMA2_chr6_128878138_129521566	129055176	T T	TTTATTAT others(24): Show TTTATTATTATTATTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG06807.hp1 HG03139.hp2 HG06807.hp1	a0004 a0007 a0004 a0007	a0004c0020 a0007c0017 a0004c0020 a0007c0017	a0004c0020t0008 a0007c0017t0007 a0004c0020t0008 a0007c0017t0007	a0004c0020t0008g0027 a0007c0017t0007g0025 a0004c0020t0008g0027 a0007c0017t0007g0025	2	68	0.0294	31	c.284 others(48): Show c.284-4594_284-4593insTATTATTATTATTATTATTATTATTATT ATT	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	2/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA4_chr6_112102931_112259567	112190947	C C	CTTTCTTT others(24): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0165 a0001c0002t0001g0165	1	192	0.0052	31	c.718 others(46): Show c.718+688_718+689insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA A	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	6/38			chr6	TogoVar
LAMA5_chr20_62304065_62372312	62321535	T T	TCAGTGAA others(24): Show TCAGTGAAAGGGTGGCGCCAGTGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0039 a0039	a0039c0096 a0039c0096	a0039c0096t0002 a0039c0096t0002	a0039c0096t0002g0088 a0039c0096t0002g0088	1	110	0.0091	31	c.649 others(48): Show c.6496+483_6496+484insCTCTTCCTCCACTGGCGCCACCCTTTCA CTG	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62334753	C C	CAGGGCTC others(24): Show CAGGGCTCAGGGCGAGGGCGAGGGCGAGGGCG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0081 a0081	a0081c0056 a0081c0056	a0081c0056t0001 a0081c0056t0001	a0081c0056t0001g0034 a0081c0056t0001g0034	1	40	0.0250	31	c.248 others(48): Show c.2483-133_2483-132insCGCCCTCGCCCTCGCCCTCGCCCTGAGC CCT	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	20/79			chr20	TogoVar
LAMC3_chr9_131004174_131099473	131046518	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18998.hp2 NA19066.hp1 HG03017.hp2 NA18998.hp2 NA19066.hp1	a0010 a0020 a0010 a0020	a0010c0046 a0020c0006 a0010c0046 a0020c0006	a0010c0046t0003 a0020c0006t0003 a0010c0046t0003 a0020c0006t0003	a0010c0046t0003g0146 a0010c0046t0003g0188 a0020c0006t0003g0270 a0010c0046t0003g0146 a0010c0046t0003g0188 a0020c0006t0003g0270	3	67	0.0448	31	c.151 others(48): Show c.1519+884_1519+885insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMC3_chr9_131004174_131099473	131069577	G G	GAACCCAG others(24): Show GAACCCAGCACGCACTGCCCCTGGCCCCTCTA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00609.hp2 HG01123.hp1 HG01943.hp1 others(44): Show HG00609.hp2 HG01123.hp1 HG01943.hp1 HG02129.hp1 HG02135.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02683.hp1 HG02698.hp2 HG02922.hp1 HG02922.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG04115.hp2 NA18906.hp2 NA18939.hp2 NA18946.hp2 NA18949.hp2 NA18953.hp2 NA18954.hp1 NA18957.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18971.hp2 NA18977.hp1 NA18989.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp1 NA19003.hp2 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19079.hp2 NA19087.hp2 NA20905.hp2	a0003 a0006 a0008 others(18): Show a0003 a0006 a0008 a0011 a0014 a0017 a0019 a0021 a0022 a0024 a0026 a0032 a0034 a0044 a0066 a0076 a0086 a0087 a0089 a0092 a0094	a0003c0010 a0003c0012 a0003c0020 others(23): Show a0003c0010 a0003c0012 a0003c0020 a0006c0047 a0008c0032 a0008c0070 a0008c0078 a0008c0085 a0011c0003 a0014c0125 a0017c0071 a0019c0164 a0021c0052 a0022c0182 a0024c0039 a0026c0141 a0032c0221 a0034c0147 a0044c0165 a0066c0190 a0076c0123 a0086c0061 a0087c0090 a0089c0163 a0092c0208 a0094c0199	a0003c0010t0002 a0003c0012t0002 a0003c0012t0028 others(27): Show a0003c0010t0002 a0003c0012t0002 a0003c0012t0028 a0003c0020t0002 a0006c0047t0002 a0008c0032t0002 a0008c0032t0021 a0008c0070t0027 a0008c0078t0002 a0008c0085t0002 a0011c0003t0001 a0011c0003t0002 a0011c0003t0022 a0014c0125t0002 a0017c0071t0002 a0019c0164t0002 a0021c0052t0002 a0022c0182t0002 a0024c0039t0001 a0026c0141t0001 a0032c0221t0002 a0034c0147t0002 a0044c0165t0001 a0066c0190t0002 a0076c0123t0002 a0086c0061t0002 a0087c0090t0002 a0089c0163t0002 a0092c0208t0023 a0094c0199t0002	a0003c0010t0002g0081 a0003c0010t0002g0151 a0003c0010t0002g0205 others(44): Show a0003c0010t0002g0081 a0003c0010t0002g0151 a0003c0010t0002g0205 a0003c0010t0002g0226 a0003c0012t0002g0017 a0003c0012t0002g0060 a0003c0012t0002g0074 a0003c0012t0028g0018 a0003c0020t0002g0152 a0003c0020t0002g0195 a0006c0047t0002g0194 a0006c0047t0002g0215 a0008c0032t0002g0025 a0008c0032t0002g0034 a0008c0032t0021g0033 a0008c0070t0027g0069 a0008c0078t0002g0023 a0008c0085t0002g0224 a0011c0003t0001g0168 a0011c0003t0002g0067 a0011c0003t0002g0159 a0011c0003t0002g0162 a0011c0003t0002g0167 a0011c0003t0002g0177 a0011c0003t0002g0185 a0011c0003t0002g0187 a0011c0003t0002g0231 a0011c0003t0022g0160 a0014c0125t0002g0132 a0017c0071t0002g0014 a0019c0164t0002g0267 a0021c0052t0002g0293 a0021c0052t0002g0328 a0022c0182t0002g0283 a0024c0039t0001g0227 a0024c0039t0001g0239 a0026c0141t0001g0158 a0032c0221t0002g0027 a0034c0147t0002g0078 a0044c0165t0001g0269 a0066c0190t0002g0314 a0076c0123t0002g0235 a0086c0061t0002g0122 a0087c0090t0002g0051 a0089c0163t0002g0268 a0092c0208t0023g0360 a0094c0199t0002g0296	47	358	0.1313	31	c.289 others(45): Show c.2891-32_2891-2dupAACCCAGCACGCACTGCCCCTGGCCCCTCTA	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	16/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMP3_chr3_183117215_183167734	183149574	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0051 a0001c0003t0002g0051	1	292	0.0034	31	c.888 others(48): Show c.888+2800_888+2801insATATATATATATATATATATATATATAT TTT	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5			chr3	TogoVar
LAP3_chr4_17572198_17612970	17580185	T T	TATATATA others(24): Show TATATATATATATATATATATATATGTATGTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03516.hp1 HG03098.hp2 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0149 a0001c0003t0003g0150 a0001c0003t0003g0149 a0001c0003t0003g0150	2	256	0.0078	31	c.218 others(46): Show c.218+246_218+247insATATATATATATATATATATATATGTATGT A	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12			chr4	TogoVar
LAPTM4A_chr2_20027650_20056628	20047696	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	332	0.0030	31	c.111 others(48): Show c.111+3713_111+3714insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	LAPTM4A	ENSG00000068697.7	transcript	ENST00000175091.5	protein_coding	1/6			chr2	TogoVar
LAPTM4B_chr8_97770788_97858013	97834144	G G	GAAAAAAA others(24): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0326 a0001c0001t0002g0326	1	196	0.0051	31	c.603 others(48): Show c.603+9005_603+9006insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LARGE1_chr22_33267509_33925476	33416906	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18906.hp1 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0011 a0001c0001t0005 a0001c0003t0011	a0001c0001t0005g0028 a0001c0003t0011g0063 a0001c0001t0005g0028 a0001c0003t0011g0063	2	18	0.1111	31	c.892 others(50): Show c.892+15254_892+15255insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	7/14			chr22	TogoVar
LARP1B_chr4_128056312_128216988	128110676	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0044 a0002c0002t0002g0044	1	9	0.1111	31	c.988 others(48): Show c.988+3380_988+3381insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP4_chr12_50395885_50485004	50446429	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA19065.hp1 NA18975.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0211 a0002c0002t0001g0279 a0002c0002t0001g0211 a0002c0002t0001g0279	2	154	0.0130	31	c.804 others(48): Show c.804+4787_804+4788insATATATATATATATATATATATATATAT ATT	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446430	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	248	0.0040	31	c.804 others(48): Show c.804+4787_804+4788insATATATATATATATATATATATATATAT ATA	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15			chr12	TogoVar
LARS1_chr5_146108034_146187650	146170017	C C	CATTGACA others(24): Show CATTGACAAGAATACTTCATTGTTGAGGTATT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0208 a0002c0002t0002g0208	1	282	0.0035	31	c.295 others(48): Show c.295-1753_295-1752insAATACCTCAACAATGAAGTATTCTTGTC AAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	4/31			chr5	TogoVar
LARS2_chr3_45383576_45554407	45484630	A A	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	17	0.0588	31	c.101 others(50): Show c.1019-1061_1019-1060insAAAAATATATATATATATATATATAT ATATA	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
LAS1L_chrX_65507582_65539787	65525748	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	127	0.0079	31	c.957 others(46): Show c.957-699_957-698insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	LAS1L	ENSG00000001497.18	transcript	ENST00000374811.8	protein_coding	7/13			chrX	TogoVar
LASP1NB_chr17_38920614_38934381	38932841	A A	ATAGTTTT others(24): Show ATAGTTTTATTAATATAGTAAATAAACAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	31	c.65 others(42): Show c.6545_*6546insTAGTTTTATTAATATAGTAAATAAACAAAAT	LASP1NB	ENSG00000263874.3	transcript	ENST00000583195.3	protein_coding		3461		chr17	TogoVar
LATS2_chr13_20968036_21066586	21007699	A A	AGTGTATA others(24): Show AGTGTATATATATATATATATATATAGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0254 a0002c0006t0004g0254	1	271	0.0037	31	c.343 others(50): Show c.343-16296_343-16295insACACACTATATATATATATATATATA TACAC	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LATS2_chr13_20968036_21066586	21007700	G G	GTGTATAT others(24): Show GTGTATATATATATATATATATAGTGTATATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18950.hp2 NA18992.hp2 others(4): Show HG01943.hp1 NA18950.hp2 NA18992.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0022 a0001c0001t0001 a0001c0001t0013 a0001c0001t0022	a0001c0001t0001g0218 a0001c0001t0001g0230 a0001c0001t0001g0237 others(4): Show a0001c0001t0001g0218 a0001c0001t0001g0230 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0265 a0001c0001t0013g0205 a0001c0001t0022g0171	7	203	0.0345	31	c.343 others(50): Show c.343-16297_343-16296insTATATACACTATATATATATATATAT ATACA	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LATS2_chr13_20968036_21066586	21007700	G G	GTGTATAT others(24): Show GTGTATATATATATATATATATAGTGTGTATA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0267 a0004c0004t0005g0267	1	197	0.0051	31	c.343 others(50): Show c.343-16297_343-16296insTATACACACTATATATATATATATAT ATACA	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LATS2_chr13_20968036_21066586	21007700	G G	GTGTATAT others(24): Show GTGTATATATATATATATATATATAGTGTATA	intron_variant intron_variant	MODIFIER	HG01928.hp2 NA18946.hp1 NA18984.hp2 others(1): Show HG01928.hp2 NA18946.hp1 NA18984.hp2 NA19079.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0029 a0001c0001 a0010c0029	a0001c0001t0001 a0001c0001t0017 a0001c0001t0047 others(1): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0047 a0010c0029t0001	a0001c0001t0001g0260 a0001c0001t0017g0131 a0001c0001t0047g0100 others(1): Show a0001c0001t0001g0260 a0001c0001t0017g0131 a0001c0001t0047g0100 a0010c0029t0001g0241	4	200	0.0200	31	c.343 others(50): Show c.343-16297_343-16296insTATACACTATATATATATATATATAT ATACA	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LATS2_chr13_20968036_21066586	21007700	G G	GTGTATAT others(24): Show GTGTATATATATATATATATATATAGTGTGTA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01361.hp1 NA19074.hp2 HG01175.hp1 HG01361.hp1 NA19074.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0005 a0001c0001t0001 a0004c0004t0005	a0001c0001t0001g0195 a0004c0004t0005g0246 a0004c0004t0005g0259 a0001c0001t0001g0195 a0004c0004t0005g0246 a0004c0004t0005g0259	3	199	0.0151	31	c.343 others(50): Show c.343-16297_343-16296insTACACACTATATATATATATATATAT ATACA	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LBH_chr2_30226534_30265028	30249053	T T	TTGGGACG others(24): Show TTGGGACGATTAGTTTTAGCATTGGAGTAGGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02647.hp1 HG02895.hp1 others(14): Show HG02280.hp1 HG02647.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG03139.hp1 HG03225.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp2 NA19043.hp1 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0016 a0001c0001t0020 a0001c0001t0037	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0206 others(14): Show a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0206 a0001c0001t0002g0149 a0001c0001t0002g0173 a0001c0001t0002g0197 a0001c0001t0010g0048 a0001c0001t0010g0077 a0001c0001t0010g0143 a0001c0001t0010g0150 a0001c0001t0010g0189 a0001c0001t0010g0291 a0001c0001t0016g0071 a0001c0001t0016g0142 a0001c0001t0016g0170 a0001c0001t0020g0174 a0001c0001t0037g0063	17	394	0.0431	31	c.130 others(48): Show c.130-8379_130-8378insGGGACGATTAGTTTTAGCATTGGAGTAG GCT	LBH	ENSG00000213626.13	transcript	ENST00000395323.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
LCA5L_chr21_39400728_39450778	39428598	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA19066.hp1 NA21309.hp1 HG02083.hp2 NA19066.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0042 a0001c0001t0001g0111 a0001c0001t0001g0113	3	225	0.0133	31	c.-10 others(44): Show c.-10-96_-10-95insAAATATATATATATATATATATATATATATA	LCA5L	ENSG00000157578.14	transcript	ENST00000288350.8	protein_coding	4/10			chr21	TogoVar
LCP2_chr5_170241233_170302777	170289643	T T	TTCTTTCT others(24): Show TTCTTTCTTTCTTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0286 a0001c0002t0001g0286	1	380	0.0026	31	c.142 others(48): Show c.142-1628_142-1627insGAGAGAGAGAGAGAGAGAGAAGAAAGAA AGA	LCP2	ENSG00000043462.13	transcript	ENST00000046794.10	protein_coding	2/20			chr5	TogoVar
LCP2_chr5_170241233_170302777	170289646	T T	TTTCTTTC others(24): Show TTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0287 a0001c0002t0001g0287	1	382	0.0026	31	c.142 others(48): Show c.142-1631_142-1630insGAGAGAGAGAGAGAGAGAGAGAGAGAAA GAA	LCP2	ENSG00000043462.13	transcript	ENST00000046794.10	protein_coding	2/20			chr5	TogoVar
LDAH_chr2_20679031_20828101	20710714	T T	TTATACAT others(24): Show TTATACATATATATACATATATATTATACACA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	256	0.0039	31	c.704 others(48): Show c.704-9093_704-9063dupTGTGTATAATATATATGTATATATATGT ATA	LDAH	ENSG00000118961.15	transcript	ENST00000237822.8	protein_coding	5/6			chr2	TogoVar
LDAH_chr2_20679031_20828101	20716862	C C	CATACTGT others(24): Show CATACTGTATAGTATTCCATGGTGTAGATGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00642.hp2 others(64): Show HG00099.hp1 HG00438.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01192.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG02004.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02723.hp1 HG02886.hp2 HG02965.hp1 HG03139.hp2 HG03195.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18939.hp2 NA18945.hp1 NA18953.hp1 NA18968.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18990.hp1 NA18994.hp1 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19011.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012	a0001c0001t0001g0018 a0001c0001t0001g0042 a0001c0001t0001g0100 others(64): Show a0001c0001t0001g0018 a0001c0001t0001g0042 a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0001g0179 a0001c0001t0001g0190 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0002g0037 a0001c0001t0002g0112 a0001c0001t0002g0153 a0001c0001t0002g0174 a0001c0001t0003g0063 a0001c0001t0003g0082 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0161 a0001c0001t0003g0167 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0218 a0001c0001t0004g0044 a0001c0001t0004g0250 a0001c0001t0005g0017 a0001c0001t0005g0035 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0048 a0001c0001t0005g0051 a0001c0001t0005g0059 a0001c0001t0005g0070 a0001c0001t0005g0077 a0001c0001t0005g0094 a0001c0001t0005g0103 a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0005g0113 a0001c0001t0005g0119 a0001c0001t0005g0123 a0001c0001t0005g0163 a0001c0001t0005g0165 a0001c0001t0005g0166 a0001c0001t0005g0216 a0001c0001t0007g0203 a0001c0001t0012g0007	67	256	0.2617	31	c.704 others(50): Show c.704-15211_704-15210insCACATCTACACCATGGAATACTATAC AGTAT	LDAH	ENSG00000118961.15	transcript	ENST00000237822.8	protein_coding	5/6			chr2	TogoVar
LDB2_chr4_16496541_16903645	16538430	A A	AAAAACAA others(24): Show AAAAACAAAACAAAACAAAACAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG01123.hp2 others(16): Show HG00140.hp2 HG00741.hp2 HG01123.hp2 HG01169.hp2 HG01515.hp1 HG01517.hp1 HG02083.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02698.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA19043.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0053 others(16): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0084 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0126 a0001c0001t0002g0066 a0001c0001t0002g0096 a0001c0001t0002g0104 a0001c0001t0002g0113 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0006g0092 a0001c0002t0001g0001	19	159	0.1195	31	c.616 others(50): Show c.616-26327_616-26326insGTTTTTGTTTTGTTTTGTTTTGTTTT GTTTT	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	5/7			chr4	TogoVar
LDB2_chr4_16496541_16903645	16690519	G G	GGGGAGGG others(24): Show GGGGAGGGAGGGAGGGAGGGAGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	11	0.0909	31	c.235 others(50): Show c.235+68638_235+68639insTCCCCCCTCCCTCCCTCCCTCCCTCC CTCCC	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	2/7			chr4	TogoVar
LDHB_chr12_21630342_21662842	21662673	C C	CGGCCTTT others(24): Show CGGCCTTTAAGAACTGTAACACTCACCGCGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	264	0.0038	31	c.-49 others(42): Show c.-4930_-4929insATCGCGGTGAGTGTTACAGTTCTTAAAGGCC	LDHB	ENSG00000111716.14	transcript	ENST00000350669.5	protein_coding		4832		chr12	TogoVar
LDLRAD4_chr18_13213760_13657751	13610305	T T	TTTTTTTT others(24): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0004 a0001c0001t0022g0004	1	136	0.0074	31	c.182 others(50): Show c.182-10812_182-10811insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTC	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6			chr18	TogoVar
LEP_chr7_128236278_128262629	128258733	C C	CTTTCTTT others(24): Show CTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	211	0.0047	31	c.39 others(42): Show c.3970_*3971insTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCT	LEP	ENSG00000174697.5	transcript	ENST00000308868.5	protein_coding		1105		chr7	TogoVar
LEXM_chr1_54801063_54847252	54819812	T T	TTTTCTTT others(24): Show TTTTCTTTCTCTTTCTTTCTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0208 a0001c0002t0002g0208	1	300	0.0033	31	c.118 others(50): Show c.1184+2699_1184+2700insCTTTCTTTCTTTTCTTTCTTTCTTTC TTTCT	LEXM	ENSG00000162398.12	transcript	ENST00000371273.4	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGALS1_chr22_37670636_37684802	37680464	G G	GTTTCCCA others(24): Show GTTTCCCATACCTCGTGCACGGATTATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	418	0.0024	31	c.71 others(40): Show c.715_*716insTTTCCCATACCTCGTGCACGGATTATTTTTT	LGALS1	ENSG00000100097.12	transcript	ENST00000215909.10	protein_coding		663		chr22	TogoVar
LHFPL3_chr7_104323603_104913561	104365787	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	48	0.0208	31	c.445 others(50): Show c.445+36581_445+36582insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHFPL3_chr7_104323603_104913561	104614653	C C	CTTCTCTT others(24): Show CTTCTCTTCTCTTCTCTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	50	0.0200	31	c.446 others(52): Show c.446-122021_446-122020insTCTCTTCTCTTCTCTCCTTCCTTC CTTCCTT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHFPL4_chr3_9493361_9558822	9555670	G G	GGAGCTCA others(24): Show GGAGCTCACAGCTTCACAGGGAGATGGAAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0282 a0001c0001t0018g0282	1	358	0.0028	31	c.-21 others(42): Show c.-2155_-2154insATCTTCCATCTCCCTGTGAAGCTGTGAGCTC	LHFPL4	ENSG00000156959.9	transcript	ENST00000287585.8	protein_coding		1849		chr3	TogoVar
LHX3_chr9_136191250_136210128	136208291	T T	TGGAGGGT others(24): Show TGGAGGGTGCAGGGAGGGCCAAGGTGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	2	0.5000	31	c.-32 others(42): Show c.-3280_-3279insCCCCCCCACCTTGGCCCTCCCTGCACCCTCC	LHX3	ENSG00000107187.17	transcript	ENST00000371748.10	protein_coding		3164		chr9	TogoVar
LIG4_chr13_108202442_108220536	108207175	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	123	0.0081	31	c.13 others(42): Show c.1357_*1358insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	LIG4	ENSG00000174405.15	transcript	ENST00000442234.6	protein_coding		266		chr13	TogoVar
LIMA1_chr12_50170788_50288520	50175363	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0153 a0002c0005t0004g0153	1	89	0.0112	31	c.17 others(42): Show c.1700_*1701insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	LIMA1	ENSG00000050405.14	transcript	ENST00000341247.9	protein_coding		424		chr12	TogoVar
LIMD1_chr3_45589751_45691341	45663868	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0331 a0001c0002t0048g0331	1	108	0.0093	31	c.151 others(50): Show c.1511-1762_1511-1761insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
LIMD1_chr3_45589751_45691341	45686663	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0345 a0001c0002t0005g0345	1	56	0.0179	31	c.96 others(42): Show c.9604_*9605insTATATATATATATATATATATATATTTTTTT	LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding		323		chr3	TogoVar
LIMD1_chr3_45589751_45691341	45686663	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19054.hp1 NA19009.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0065 a0001c0001t0046 a0001c0001t0065	a0001c0001t0046g0283 a0001c0001t0065g0245 a0001c0001t0046g0283 a0001c0001t0065g0245	2	57	0.0351	31	c.96 others(42): Show c.9604_*9605insTATATATATATATATATATATTTTTTTTTTT	LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding		323		chr3	TogoVar
LIMD1_chr3_45589751_45691341	45686663	A A	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18995.hp2 NA18953.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0276 a0001c0001t0002g0052 a0001c0001t0002g0276	2	57	0.0351	31	c.96 others(42): Show c.9604_*9605insTATATATATATATATATATTTTTTTTTTTTT	LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding		323		chr3	TogoVar
LIMD1_chr3_45589751_45691341	45686663	A A	ATATATAT others(24): Show ATATATATATATATATATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0315 a0001c0002t0005g0315	1	56	0.0179	31	c.96 others(42): Show c.9604_*9605insTATATATATATATATATTTTTTTTTTTTTTT	LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding		323		chr3	TogoVar
LIMD1_chr3_45589751_45691341	45686663	A A	ATATATAT others(24): Show ATATATATATATATATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0284	1	56	0.0179	31	c.96 others(42): Show c.9604_*9605insTATATATATATATATTTTTTTTTTTTTTTTT	LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding		323		chr3	TogoVar
LIMD1_chr3_45589751_45691341	45686663	A A	ATATATTT others(24): Show ATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0017 a0001c0001t0034g0017	1	56	0.0179	31	c.96 others(42): Show c.9604_*9605insTATATTTTTTTTTTTTTTTTTTTTTTTTTTT	LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding		323		chr3	TogoVar
LIMK1_chr7_74078804_74127525	74102484	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02109.hp1 HG02257.hp2 others(4): Show HG00597.hp2 HG02109.hp1 HG02257.hp2 HG02630.hp1 HG02647.hp2 HG03195.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0079 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0079 a0001c0001t0001g0100 a0001c0001t0001g0124 a0001c0001t0001g0136	7	63	0.1111	31	c.608 others(48): Show c.608+3264_608+3265insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	LIMK1	ENSG00000106683.15	transcript	ENST00000336180.7	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr7	TogoVar

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