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
LAMA5_chr20_62304065_62372312	62331221	T T	TGGGGGGG others(16): Show TGGGGGGGTGCAGGCGGTACGATG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0083 a0083	a0083c0046 a0083c0046	a0083c0046t0001 a0083c0046t0001	a0083c0046t0001g0090 a0083c0046t0001g0090	1	127	0.0079	23	c.355 others(39): Show c.3553-115_3553-93dupCATCGTACCGCCTGCACCCCCCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	28/79			chr20	TogoVar
LAMC3_chr9_131004174_131099473	131047165	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01168.hp2 HG01169.hp2 others(25): Show HG00323.hp2 HG01168.hp2 HG01169.hp2 HG01993.hp1 HG02015.hp2 HG02083.hp2 HG02145.hp2 HG02293.hp1 HG02559.hp1 HG02970.hp1 HG03453.hp1 HG03486.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp2 NA18952.hp2 NA18962.hp1 NA18971.hp1 NA18982.hp1 NA19000.hp2 NA19004.hp1 NA19056.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2	a0001 a0009 a0012 others(10): Show a0001 a0009 a0012 a0014 a0015 a0018 a0032 a0033 a0053 a0060 a0061 a0076 a0083	a0001c0004 a0001c0013 a0001c0095 others(20): Show a0001c0004 a0001c0013 a0001c0095 a0001c0105 a0009c0008 a0012c0017 a0012c0184 a0012c0202 a0014c0022 a0014c0049 a0014c0151 a0015c0014 a0015c0124 a0018c0009 a0018c0076 a0032c0083 a0032c0221 a0033c0035 a0053c0072 a0060c0186 a0061c0155 a0076c0123 a0083c0197	a0001c0004t0001 a0001c0013t0001 a0001c0095t0020 others(21): Show a0001c0004t0001 a0001c0013t0001 a0001c0095t0020 a0001c0105t0001 a0009c0008t0002 a0012c0017t0001 a0012c0184t0001 a0012c0202t0001 a0014c0022t0002 a0014c0049t0016 a0014c0151t0002 a0015c0014t0001 a0015c0014t0035 a0015c0124t0002 a0018c0009t0001 a0018c0076t0001 a0032c0083t0001 a0032c0221t0002 a0033c0035t0002 a0053c0072t0001 a0060c0186t0002 a0061c0155t0001 a0076c0123t0002 a0083c0197t0001	a0001c0004t0001g0156 a0001c0013t0001g0125 a0001c0095t0020g0063 others(25): Show a0001c0004t0001g0156 a0001c0013t0001g0125 a0001c0095t0020g0063 a0001c0105t0001g0147 a0009c0008t0002g0291 a0009c0008t0002g0309 a0009c0008t0002g0319 a0009c0008t0002g0321 a0012c0017t0001g0301 a0012c0017t0001g0322 a0012c0184t0001g0339 a0012c0202t0001g0327 a0014c0022t0002g0223 a0014c0049t0016g0346 a0014c0151t0002g0141 a0015c0014t0001g0142 a0015c0014t0035g0057 a0015c0124t0002g0114 a0018c0009t0001g0251 a0018c0076t0001g0053 a0032c0083t0001g0009 a0032c0221t0002g0027 a0033c0035t0002g0111 a0053c0072t0001g0119 a0060c0186t0002g0294 a0061c0155t0001g0088 a0076c0123t0002g0235 a0083c0197t0001g0323	28	120	0.2333	23	c.151 others(42): Show c.1519+1522_1519+1523insTTTTTTTTTTTTTTTTTTTTTTT	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMP3_chr3_183117215_183167734	183149574	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0055 a0001c0003t0002g0055	1	292	0.0034	23	c.888 others(40): Show c.888+2800_888+2801insATATATATATATATATATATTTT	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5			chr3	TogoVar
LAMP3_chr3_183117215_183167734	183149574	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0057 a0002c0004t0002g0057	1	292	0.0034	23	c.888 others(40): Show c.888+2800_888+2801insATATATATATATATATATATATA	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5			chr3	TogoVar
LAPTM4B_chr8_97770788_97858013	97800484	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0026 a0001c0001t0008g0026	1	96	0.0104	23	c.100 others(40): Show c.100-4864_100-4842dupTTTTTTTTTTTTTTTTTTTTTTT	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LAPTM4B_chr8_97770788_97858013	97834144	G G	GAAAAAAA others(16): Show GAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01256.hp1 HG01258.hp2 others(14): Show HG00673.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01993.hp1 HG02027.hp2 HG02080.hp1 HG02135.hp2 HG02148.hp2 HG02293.hp1 HG03130.hp1 HG03471.hp2 HG04199.hp1 NA18747.hp1 NA18970.hp1 NA18980.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0025 a0001c0002t0018	a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0092 others(14): Show a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0128 a0001c0001t0001g0147 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0002g0149 a0001c0001t0003g0159 a0001c0001t0005g0135 a0001c0001t0005g0145 a0001c0001t0005g0160 a0001c0001t0006g0365 a0001c0001t0025g0292 a0001c0002t0018g0242	17	212	0.0802	23	c.603 others(40): Show c.603+9005_603+9006insAAAAAAAAAAAAAAAAAAAAAAA	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LARGE1_chr22_33267509_33925476	33651225	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0027	1	21	0.0476	23	c.107 others(38): Show c.107-558_107-557insTTTTTTTTTTTTTTTTTTTTTTT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	2/14			chr22	TogoVar
LARGE1_chr22_33267509_33925476	33878129	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01517.hp1 NA18522.hp2 HG01257.hp2 HG01517.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0031 a0001c0002t0001 a0002c0005t0008 a0001c0001t0031 a0001c0002t0001 a0002c0005t0008	a0001c0001t0031g0109 a0001c0002t0001g0041 a0002c0005t0008g0014 a0001c0001t0031g0109 a0001c0002t0001g0041 a0002c0005t0008g0014	3	23	0.1304	23	c.-83 others(42): Show c.-83+41843_-83+41865dupAAAAAAAAAAAAAAAAAAAAAAA	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14			chr22	TogoVar
LARP1B_chr4_128056312_128216988	128073572	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0294 a0002c0002t0002g0294	1	206	0.0049	23	c.-77 others(38): Show c.-77-873_-77-851dupTTTTTTTTTTTTTTTTTTTTTTT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128098768	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0005 a0009c0011t0005	a0009c0011t0005g0123 a0009c0011t0005g0123	1	269	0.0037	23	c.813 others(38): Show c.813+438_813+439insATATATATATATATATATATATA	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	8/19			chr4	TogoVar
LARP1B_chr4_128056312_128216988	128110676	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02559.hp1 others(7): Show HG02109.hp2 HG02280.hp1 HG02559.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03704.hp1 NA18941.hp1 NA19068.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0017 a0002c0019 a0002c0002 a0002c0017 a0002c0019	a0002c0002t0002 a0002c0002t0010 a0002c0017t0002 others(1): Show a0002c0002t0002 a0002c0002t0010 a0002c0017t0002 a0002c0019t0002	a0002c0002t0002g0039 a0002c0002t0002g0067 a0002c0002t0002g0081 others(7): Show a0002c0002t0002g0039 a0002c0002t0002g0067 a0002c0002t0002g0081 a0002c0002t0002g0085 a0002c0002t0002g0117 a0002c0002t0002g0288 a0002c0002t0010g0041 a0002c0002t0010g0074 a0002c0017t0002g0071 a0002c0019t0002g0083	10	18	0.5556	23	c.988 others(40): Show c.988+3380_988+3381insAAAAAAAAAAAAAAAAAAAAAAA	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128143796	G G	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0106 a0001c0001t0017g0106	1	143	0.0070	23	c.152 others(44): Show c.1525-18398_1525-18397insTGTGTGTGTGTGTGTGTGTGTGT	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	11/19			chr4	TogoVar
LARP4_chr12_50395885_50485004	50446429	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02486.hp2 NA19057.hp1 others(2): Show HG01928.hp1 HG02486.hp2 NA19057.hp1 NA19058.hp1 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 a0001c0005t0001 a0002c0002t0001	a0001c0001t0001g0207 a0001c0001t0012g0245 a0001c0001t0016g0258 others(2): Show a0001c0001t0001g0207 a0001c0001t0012g0245 a0001c0001t0016g0258 a0001c0005t0001g0009 a0002c0002t0001g0209	5	157	0.0318	23	c.804 others(40): Show c.804+4787_804+4788insATATATATATATATATATATATT	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(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18995.hp1 HG02040.hp2 NA18995.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0210 a0002c0002t0001g0280 a0001c0001t0004g0210 a0002c0002t0001g0280	2	249	0.0080	23	c.804 others(40): Show c.804+4787_804+4788insATATATATATATATATATATATA	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15			chr12	TogoVar
LARP4_chr12_50395885_50485004	50481739	A A	AACTCTTC others(16): Show AACTCTTCTCATCAGTGATTCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0239 a0001c0001t0014g0239	1	316	0.0032	23	c.58 others(34): Show c.5875_*5876insACTCTTCTCATCAGTGATTCCGC	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding		1736		chr12	TogoVar
LARS2_chr3_45383576_45554407	45484618	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	223	0.0045	23	c.101 others(42): Show c.1019-1074_1019-1073insTATATATATATATATATATATAT	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21			chr3	TogoVar
LARS2_chr3_45383576_45554407	45484620	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03927.hp1 HG03710.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0057 a0001c0002t0003g0068 a0001c0002t0001g0057 a0001c0002t0003g0068	2	185	0.0108	23	c.101 others(42): Show c.1019-1072_1019-1071insTATATATATATATATATATATAT	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21			chr3	TogoVar
LARS2_chr3_45383576_45554407	45484624	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0122	1	146	0.0068	23	c.101 others(42): Show c.1019-1068_1019-1067insTATATATATATATATATATATAT	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21			chr3	TogoVar
LARS2_chr3_45383576_45554407	45484626	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02004.hp2 HG01070.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0197 a0001c0002t0001g0224 a0001c0002t0001g0197 a0001c0002t0001g0224	2	139	0.0144	23	c.101 others(42): Show c.1019-1066_1019-1065insTATATATATATATATATATATAT	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21			chr3	TogoVar
LARS2_chr3_45383576_45554407	45484628	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	107	0.0093	23	c.101 others(42): Show c.1019-1064_1019-1063insTATATATATATATATATATATAT	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21			chr3	TogoVar
LARS2_chr3_45383576_45554407	45484630	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	17	0.0588	23	c.101 others(42): Show c.1019-1061_1019-1060insAAATATATATATATATATATATA	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
LARS2_chr3_45383576_45554407	45484630	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02683.hp2 HG02897.hp2 HG02056.hp2 HG02683.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0024	3	19	0.1579	23	c.101 others(42): Show c.1019-1061_1019-1060insATATATATATATATATATATATA	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
LARS2_chr3_45383576_45554407	45484630	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01496.hp1 HG00735.hp1 HG01496.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0006 a0001c0007t0001g0109 a0001c0007t0001g0006 a0001c0007t0001g0109	2	18	0.1111	23	c.101 others(42): Show c.1019-1062_1019-1061insTATATATATATATATATATATAT	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21			chr3	TogoVar
LAS1L_chrX_65507582_65539787	65525748	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	127	0.0079	23	c.957 others(38): Show c.957-699_957-698insTTTTTTTTTTTTTTTTTTTTTTT	LAS1L	ENSG00000001497.18	transcript	ENST00000374811.8	protein_coding	7/13			chrX	TogoVar
LATS2_chr13_20968036_21066586	20969898	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0246 a0004c0004t0005g0246	1	2	0.5000	23	c.49 others(34): Show c.4971_*4972insTTTTTTTTTTTTTTTTTTTTTTT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding		3137		chr13	TogoVar
LATS2_chr13_20968036_21066586	21007683	G G	GTGTGTAT others(16): Show GTGTGTATATATATAGTGTATATA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0204 a0001c0001t0013g0204	1	278	0.0036	23	c.343 others(42): Show c.343-16280_343-16279insTATATACACTATATATATACACA	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LATS2_chr13_20968036_21066586	21007683	G G	GTGTGTAT others(16): Show GTGTGTATATATATATAGTGTATA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02280.hp1 HG03139.hp2 others(3): Show HG01515.hp2 HG02280.hp1 HG03139.hp2 HG04204.hp1 NA18945.hp1 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0025 a0001c0001t0001 a0004c0004t0025	a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0209 others(3): Show a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0209 a0001c0001t0001g0238 a0001c0001t0001g0240 a0004c0004t0025g0266	6	283	0.0212	23	c.343 others(42): Show c.343-16280_343-16279insTATACACTATATATATATACACA	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LAX1_chr1_203760183_203781372	203769455	A A	AAGAAAGA others(16): Show AAGAAAGAAAGAAAGGAAGAAAGG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0068 a0001c0002t0002g0068	1	416	0.0024	23	c.90- others(38): Show c.90-1372_90-1371insGAAAGAAAGAAAGGAAGAAAGGA	LAX1	ENSG00000122188.13	transcript	ENST00000442561.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
LAX1_chr1_203760183_203781372	203770436	A A	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0209 a0001c0001t0004g0209	1	420	0.0024	23	c.90- others(36): Show c.90-374_90-373insGAGAGGAGAGAGAGAGAGAGAGA	LAX1	ENSG00000122188.13	transcript	ENST00000442561.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
LCA5L_chr21_39400728_39450778	39428598	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	223	0.0045	23	c.-10 others(36): Show c.-10-96_-10-95insAAATATATATATATATATATATA	LCA5L	ENSG00000157578.14	transcript	ENST00000288350.8	protein_coding	4/10			chr21	TogoVar
LCA5L_chr21_39400728_39450778	39428598	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	223	0.0045	23	c.-10 others(36): Show c.-10-96_-10-95insAAAAATATATATATATATATATA	LCA5L	ENSG00000157578.14	transcript	ENST00000288350.8	protein_coding	4/10			chr21	TogoVar
LCA5L_chr21_39400728_39450778	39428599	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02132.hp2 NA18943.hp1 HG01978.hp1 HG02132.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0008t0001g0153 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0008t0001g0153	3	264	0.0114	23	c.-10 others(36): Show c.-10-97_-10-96insTATATATATATATATATATATAT	LCA5L	ENSG00000157578.14	transcript	ENST00000288350.8	protein_coding	4/10			chr21	TogoVar
LCLAT1_chr2_30442246_30649225	30461770	C C	CCTTTTTT others(16): Show CCTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02080.hp1 HG03492.hp1 others(1): Show HG01358.hp1 HG02080.hp1 HG03492.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0021 a0002c0002t0002 a0002c0002t0021	a0002c0002t0002g0033 a0002c0002t0002g0058 a0002c0002t0002g0059 others(1): Show a0002c0002t0002g0033 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0021g0034	4	252	0.0159	23	c.-5+ others(40): Show c.-5+14387_-5+14388insCTTTTTTTTTTTTTTTTTTTTTT	LCLAT1	ENSG00000172954.14	transcript	ENST00000379509.8	protein_coding	1/5			chr2	TogoVar
LCMT1_chr16_25106742_25183228	25179975	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01106.hp2 HG01243.hp2 others(3): Show HG01099.hp1 HG01106.hp2 HG01243.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0023 a0001c0001t0001g0169 a0001c0001t0001g0170 others(3): Show a0001c0001t0001g0023 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0002g0044 a0001c0001t0002g0080 a0001c0001t0002g0218	6	97	0.0619	23	c.19 others(34): Show c.1952_*1953insAAAAAAAAAAAAAAAAAAAAAAA	LCMT1	ENSG00000205629.12	transcript	ENST00000399069.8	protein_coding		1748		chr16	TogoVar
LCMT2_chr15_43318649_43335573	43334664	T T	TATATATA others(16): Show TATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0000 a0001c0004t0002g0000	1	395	0.0025	23	c.-41 others(34): Show c.-4176_-4175insTATATATATATATATATATATAT	LCMT2	ENSG00000168806.8	transcript	ENST00000305641.7	protein_coding		4092		chr15	TogoVar
LCORL_chr4_17836187_18026755	17948802	A A	AACAATTT others(16): Show AACAATTTTCAGAGGAGTAAAGAG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0015 a0015	a0015c0014 a0015c0014	a0015c0014t0015 a0015c0014t0015	a0015c0014t0015g0258 a0015c0014t0015g0258	1	290	0.0034	23	c.430 others(42): Show c.430+13078_430+13100dupCTCTTTACTCCTCTGAAAATTGT	LCORL	ENSG00000178177.17	transcript	ENST00000635767.2	protein_coding	4/7			chr4	TogoVar
LCTL_chr15_66542532_66570998	66544724	T T	TTTTTTTT others(16): Show TTTTTTTTTTTTTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0025	1	55	0.0182	23	c.37 others(34): Show c.3765_*3766insCACACACACACAAAAAAAAAAAA	LCTL	ENSG00000188501.12	transcript	ENST00000695545.1	protein_coding		2807		chr15	TogoVar
LDAF1_chr16_21153674_21185616	21165104	G G	GAATCTTG others(16): Show GAATCTTGCACTAGATCGCGTGTT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	388	0.0026	23	c.96+ others(38): Show c.96+3833_96+3834insCACTAGATCGCGTGTTAATCTTG	LDAF1	ENSG00000011638.11	transcript	ENST00000233047.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
LDHAL6A_chr11_18450856_18484601	18460594	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0282 a0001c0001t0045g0282	1	328	0.0030	23	c.127 others(40): Show c.127-3349_127-3348insAAAAAAAAAAAAAAAAAAAAAAA	LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDHA_chr11_18389563_18413425	18401955	C C	CTCTCTTT others(16): Show CTCTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	110	0.0091	23	c.419 others(38): Show c.419-884_419-883insCTCTTTTTTTTTTTTTTTTTTTT	LDHA	ENSG00000134333.15	transcript	ENST00000422447.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDLRAD3_chr11_35939062_36237136	36095990	T T	TGGCTGAA others(16): Show TGGCTGAAGTCAGACCTCGGTTTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 NA18944.hp2 others(5): Show HG00597.hp1 HG00609.hp2 NA18944.hp2 NA18981.hp1 NA18999.hp1 NA19002.hp1 NA19056.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0020 a0001c0001t0001g0060 a0001c0001t0001g0166 others(5): Show a0001c0001t0001g0020 a0001c0001t0001g0060 a0001c0001t0001g0166 a0001c0001t0002g0033 a0001c0002t0001g0067 a0001c0002t0001g0083 a0001c0002t0001g0183 a0001c0002t0004g0077	8	234	0.0342	23	c.320 others(40): Show c.320-2336_320-2314dupGGCTGAAGTCAGACCTCGGTTTC	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDLRAD4_chr18_13213760_13657751	13578827	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01169.hp2 NA19010.hp2 HG00140.hp2 HG01169.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0134 a0001c0001t0003g0018 a0001c0001t0003g0100 a0001c0001t0001g0134 a0001c0001t0003g0018 a0001c0001t0003g0100	3	53	0.0566	23	c.182 others(42): Show c.182-42284_182-42262dupTTTTTTTTTTTTTTTTTTTTTTT	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LEF1_chr4_108042548_108173932	108149458	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02004.hp2 HG03225.hp2 others(2): Show HG01192.hp2 HG02004.hp2 HG03225.hp2 HG03516.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0001c0001t0001 a0001c0001t0003 a0001c0001t0021	a0001c0001t0001g0243 a0001c0001t0003g0240 a0001c0001t0003g0245 others(2): Show a0001c0001t0001g0243 a0001c0001t0003g0240 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0021g0098	5	126	0.0397	23	c.414 others(42): Show c.414+14109_414+14110insTTTTTTTTTTTTTTTTTTTTTTT	LEF1	ENSG00000138795.10	transcript	ENST00000265165.6	protein_coding	3/11			chr4	TogoVar
LEKR1_chr3_156821353_157051129	157049734	A A	ATTAAGTA others(16): Show ATTAAGTAATTTGGGCAAAATTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0035 a0002c0005t0001g0035	1	129	0.0078	23	c.39 others(34): Show c.3984_*3985insTTAAGTAATTTGGGCAAAATTAC	LEKR1	ENSG00000197980.14	transcript	ENST00000356539.9	protein_coding		3606		chr3	TogoVar
LEO1_chr15_51933025_51976778	51934711	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18949.hp2 NA18942.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0200 a0001c0001t0001g0173 a0001c0001t0001g0200	2	175	0.0114	23	c.34 others(34): Show c.3444_*3445insTTTTTTTTTTTTTTTTTTTTTTT	LEO1	ENSG00000166477.13	transcript	ENST00000299601.10	protein_coding		3313		chr15	TogoVar
LGR4_chr11_27360961_27477790	27467566	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02109.hp1 HG00735.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0151 a0001c0001t0001g0152	2	223	0.0090	23	c.185 others(40): Show c.185+4551_185+4552insTTTTTTTTTTTTTTTTTTTTTTT	LGR4	ENSG00000205213.14	transcript	ENST00000379214.9	protein_coding	1/17			chr11	TogoVar
LHFPL1_chrX_112625648_112684938	112678672	A A	ACAGAATC others(16): Show ACAGAATCACTTTCAATGCTTGTT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	243	0.0041	23	c.-15 others(40): Show c.-15+1134_-15+1156dupAACAAGCATTGAAAGTGATTCTG	LHFPL1	ENSG00000182508.14	transcript	ENST00000371968.8	protein_coding	1/3			chrX	TogoVar
LHFPL2_chr5_78480230_78653772	78651583	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 NA18942.hp1 NA18984.hp2 others(3): Show HG02074.hp1 NA18942.hp1 NA18984.hp2 NA18994.hp1 NA19010.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0025 a0001c0001t0004g0074 a0001c0001t0010g0034 others(3): Show a0001c0001t0001g0025 a0001c0001t0004g0074 a0001c0001t0010g0034 a0001c0002t0002g0097 a0001c0002t0003g0030 a0001c0002t0003g0033	6	105	0.0571	23	c.-34 others(34): Show c.-3457_-3435dupTTTTTTTTTTTTTTTTTTTTTTT	LHFPL2	ENSG00000145685.14	transcript	ENST00000380345.7	protein_coding		2812		chr5	TogoVar
LHFPL3_chr7_104323603_104913561	104666512	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02280.hp2 HG02074.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0081 a0001c0001t0004g0040 a0001c0001t0003g0081 a0001c0001t0004g0040	2	6	0.3333	23	c.446 others(42): Show c.446-70158_446-70136dupTTTTTTTTTTTTTTTTTTTTTTT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHFPL4_chr3_9493361_9558822	9557420	G G	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0293 a0001c0001t0004g0293	1	105	0.0095	23	c.-39 others(34): Show c.-3905_-3904insTTTCTTTCTTTCTTTCTTTCTTT	LHFPL4	ENSG00000156959.9	transcript	ENST00000287585.8	protein_coding		3599		chr3	TogoVar

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